Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SNAI1 (snail homolog 1 (Drosophila))

Written2010-08Joerg Schwock, William R Geddie
University of Toronto, Department of Laboratory Medicine, Pathobiology, Division of Anatomical Pathology, Toronto General Hospital, 200 Elizabeth Street, Room E11-219, M5G 2C4 Toronto, Ontario, Canada

(Note : for Links provided by Atlas : click)

Identity

Alias_namessnail 1 (drosophila homolog), zinc finger protein
snail homolog 1 (Drosophila)
snail family zinc finger 1
Alias_symbol (synonym)SNA
SLUGH2
SNAH
SNAIL1
SNAIL
Other aliasdJ710H13.1
HGNC (Hugo) SNAI1
LocusID (NCBI) 6615
Atlas_Id 452
Location 20q13.13  [Link to chromosome band 20q13]
Location_base_pair Starts at 49982976 and ends at 49988883 bp from pter ( according to hg19-Feb_2009)  [Mapping SNAI1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SNAI1 (20q13.13) / PFDN4 (20q13.2)SNAI1 (20q13.13) / SLC9A8 (20q13.13)

DNA/RNA

Note Human Snail homolog 1 (SNAI1, SLUGH2, SNA, SNAH, dJ710H13.1), homolog of the Drosophila gene sna, is localized on 20q13.13 (Paznekas et al., 1999; Twigg and Wilkie, 1999). Both publications describe a SNAI1-related pseudogene SNAI1P mapped to chromosome 2q33-37.
Description SNAI1 has 3 exons (1: 143 bp, 2: 528 bp and 3: 1015 bp size) separated by intron 1-2 (682 bp) and intron 2-3 (3520 bp); spanning an approximately 6 kb region. A CpG island has been described upstream of the coding sequence.
Two silent single nucleotide polymorphisms, a T/C transition at position 783 and a G/A transition at position 1035, have been described (Twigg and Wilkie, 1999).
Transcription A single transcript of 1686 bp size gives rise to a protein of 264 aa and approximately 29.1 kDa.
Pseudogene SNAI1P.

Protein

Note Charge 13.0, isoelectric point 8.7563, molecular weight 29082.97 Da (source: Uswest.Ensembl).
 
  Snail protein structure.
Description The N-terminal portion (aa 1-150) of the Snail protein contains a SNAG (SNAI1/GFI) domain (aa 1-9) which includes the consensus sequence PRSFLV found in all Snail family members. This motif is highly conserved among species and also found in several other transcription factors where it is associated with repressive functions. A serine-rich domain (SRD: aa 90-120) and a nuclear export sequence (NES: aa 139-148) are involved in the regulation of Snail protein stability and subcellular localization, respectively.
The C-terminal portion (aa 151-264) contains 3 typical (154-176, 178-202, 208-230) and one atypical (236-259) C2H2-type zinc finger (ZF) domains.
Expression Nucleus.
Localisation The human SNAI1 transcript has been detected in placenta, adult heart and lung. Lower levels were reported for adult brain, liver and skeletal muscle (Paznekas et al., 1999). Several human fetal tissues were reported to express the SNAI1 transcript, with the highest levels detected in kidney (Twigg and Wilkie, 1999).
Reliable high protein expression is present in the extravillous trophoblast of the human placenta which can be utilized as positive control (Rosivatz et al., 2006).
 
  Snail protein expression in 1st trimester human placenta. Method and Antibody: Schwock et al., 2010.
Function Snail protein (SNAI1) is part of a superfamily of transcription factors composed of the SNAI and the SCRATCH family (Nieto, 2002; Barrallo-Gimeno and Nieto, 2009). The SNAI family contains two more members: Slug (SNAI2 (Cohen et al., 1998)) and Smuc (SNAI3 (Katoh, 2003)) on chromosomes 8 and 16, respectively.
The Snail gene in Drosophila (sna), first identified during analysis of dorso-ventral patterning, is a zinc finger gene with repressor function required for mesoderm formation (Boulay et al., 1987; Leptin, 1991). Isolation of other Snail homologues in different species including the human indicated a high degree of conservation in coding sequence and predicted protein pointing towards a conserved role in early morphogenesis (Paznekas et al., 1999).
Snail protein functions as E-cadherin repressor and is essential during early developmental stages (Cano et al., 2000; LaBonne and Bronner-Fraser, 2000). Snail is re-expressed during adult life in tissue repair as well as in neoplasia, and, in the latter, thought to contribute to the acquisition of a metastatic potential in tumor cells (Batlle et al., 2000). The process by which Snail confers increased motility in individual cells is characterized by a down-regulation of epithelial (cell-cell adhesion, apical-basal polarity) and up-regulation of mesenchymal (cell-extracellular matrix interaction, front-back polarity) features associated with respective changes in molecular composition of the cell which include (among others) cell adhesion molecules and intermediate filaments. This process, termed epithelial-mesenchymal transition (EMT) (Hay, 1989; Thiery, 2002; Peinado et al., 2007), has been classified into 3 types: type 1 in the context of developmental processes, type 2 in inflammation, tissue repair and fibrosis, and type 3 in tumor invasion and metastasis (Kalluri and Weinberg, 2009).
To exert its function as repressor, Snail nuclear import is mediated by importins which recognize a nuclear localization signal that consists of basic residues situated in the zinc finger region (Mingot et al., 2009). Inside the nucleus Snail is required to form ternary complexes with co-repressors via the Snag domain. Different ternary complexes have been described which consist of Ajuba as mediator for the interaction with PRC2 (Herranz et al., 2008), 14-3-3 and PRMT5 (Hou et al., 2010), Sin3A for the interaction with HDAC1/HDAC2 (Peinado et al., 2004), and LSD1 for the interaction with CoREST (Lin et al., 2010). Binding to DNA occurs via E-box elements (5'-CACCTG-3') found in the promoter region of different genes including the E-cadherin gene CDH1 (Batlle et al., 2000; Cano et al., 2000).
The regulation of Snail activity mainly involves the central part of the protein which contains most sites for post-translational modification: serine phosphorylation sites (Ser92, 96, 100, 104, 107) in the SRD as well as two lysine oxidation sites (Lys98 and 137), and the NES for Crm1-dependent nuclear export. Two additional serine phosphorylation sites are found N-terminal at Ser11 and C-terminal at Ser246. Phosphorylation of Ser 96, 100, 104 and 107 by GSK3beta is associated with nuclear export, ubiquitination by beta-TrCP1 or FBXL14 and proteasomal degradation (Dominguez et al., 2003; Zhou et al., 2004; Vinas-Castells et al., 2010). Snail is positively regulated by phosphorylation of Ser11, 92 and 246 and its protein stability is increased by interaction with SCP, PKA, CK2, PAK1 and LOXL2 (Peinado et al., 2005; Yang et al., 2005; Wu et al., 2009; MacPherson et al., 2010).
Limited information is available on the factors directly controlling the SNAI1 promoter. Snail up-regulation in cells has been reported as a result of diverse stimuli including cytokines (Interleukin-6), growth factors (TGFbeta, FGF, PDGF, EGF) and activation of their corresponding receptor tyrosine kinases as well as activation of developmental signaling pathways such as Wnt and Hedgehog. Notably, TGFbeta has been described as important EMT trigger leading to HMGA2 and Smad binding at the SNAI1 promoter (Thuault et al., 2008). Another example is Snail expression stimulated by HGF via the MAPK pathway and Egr-1 which also includes a negative feedback mechanism due to Snail binding at the Egr-1 promoter (Grotegut et al., 2006). Also, a conserved 3' enhancer element has been described which interacts with the SNAI1 promoter (Palmer et al., 2007). Furthermore, Snail has been found to control its own expression by binding to an E-box in its own promoter (Peiro et al., 2006). A more detailed overview over the complex signaling pathways regulating Snail expression is given in several recent review publications (Peinado et al., 2007; De Herreros et al., 2010).
Consequences of Snail up-regulation not only include the repression of E-cadherin transcription, but the negative as well as positive control of a series of genes involved in a range of biological functions such as cell-cell adhesion, cell-extracellular matrix interaction, cell polarity, cytoskeleton, cell cycle, survival, and angiogenesis leading to a phenotypic shift towards more mesenchymal cellular characteristics (De Craene et al., 2005; Higashikawa et al., 2008). In the context of tumor-associated EMT these mesenchymal-like characteristics have been correlated with a greater resistance to different therapeutic modalities (Kajita et al., 2004; Kurrey et al., 2009), escape from attack by the immune system (Kudo-Saito et al., 2009), and adoption of a cancer stem cell phenotype (Mani et al., 2008; Morel et al., 2008).
The importance and the exact biological implications of Snail expression in human tumors remain a focus of current research (Schwock et al., 2010). Some of the challenges in this area may be due to the transient and dynamic nature of tumor-associated EMT. Also, it has been proposed that Snail is required as initial trigger in EMT, whereas maintenance of the phenotype is taken over by other factors potentially leaving behind a mesenchymal cell devoid of Snail expression (Peinado et al., 2007). Another intriguing recent observation is the presence of Snail in tumor-associated stroma and its impact on tumor prognosis (Franci et al., 2009).
Homology Human Snail protein is 97.3, 87.2, 87.5, 57.3 and 58.4 identical to SNAI1 in chimpanzee (Pan troglodytes), SNAI1 in dog (Canis lupus familiaris), Snai1 in mouse (Mus musculus), snai1a and snai1b in zebrafish (Danio rerio), respectively.

Implicated in

Note
  
Entity Various cancers
Note Involvement of Snail as a major factor in craniosynostosis was excluded (Paznekas et al., 1999; Twigg and Wilkie, 1999). Expression of SNAI1 at the transcript level has been detected in benign conditions such as tissue fibrosis (Sato et al., 2003; Yanez-Mo et al., 2003; Jayachandran et al., 2009), a range of malignant neoplasms (Cheng et al., 2001; Rosivatz et al., 2002; Takeno et al., 2004), and in normal tissue adjacent to tumor (Pena et al., 2009). Early studies based on detection of the SNAI1 transcript found associations with lymph node metastasis (Cheng et al., 2001; Blanco et al., 2002) and malignant effusion (Elloul et al., 2005) in breast cancer. A mouse model reported by Moody et al. (2005) implicated Snail expression with mammary cancer recurrence. Other studies described associations between elevated SNAI1 transcript levels and hypoxia in ovarian cancer (Imai et al., 2003), downregulation of Vitamin D Receptor in colon cancer (Palmer et al., 2004; Pena et al., 2005), invasion and distant metastasis in oesophageal squamous cell carcinoma (Takeno et al., 2004), invasiveness (Sugimachi et al., 2003) and poor prognosis (Miyoshi et al., 2005) in hepatocellular carcinoma, and spindle cell phenotype in synovial sarcoma (Saito et al., 2004). However, it has been pointed out that transcript levels may not correlate well with Snail protein which is tightly regulated and subject to a short half-life previously reported as approximately 25 minutes (Zhou et al., 2004). Also, transcript levels may be confounded by Snail expression in the stromal tumor component if no micro-dissection is performed (Peinado et al., 2007). Immunohistochemical detection of Snail has been documented for a range of cancers including the upper gastrointestinal tract (Rosivatz et al., 2006; Natsugoe et al., 2007; Usami et al., 2008; Kim et al., 2009), head and neck (Yang et al., 2007; Peinado et al., 2008; Yang et al., 2008; Zidar et al., 2008; Schwock et al., 2010), colorectum (Roy et al., 2005; Franci et al., 2009), neuroendocrine tumors of the ileum (Fendrich et al., 2007), uterine cervix (Franci et al., 2006), endometrium (Blechschmidt et al., 2007), ovary (Blechschmidt et al., 2008; Jin et al., 2009; Tuhkanen et al., 2009), prostate (Heeboll et al., 2009), breast (Zhou et al., 2004), bladder (Bruyere et al., 2009), adrenal gland (Waldmann et al., 2008), thyroid gland (Hardy et al., 2007), parathyroid gland (Fendrich et al., 2009) as well as pheochromocytoma (Waldmann et al., 2009) and sarcomas (Franci et al., 2006). Differences in immunoreactivity seem to depend on the individual tumor entity examined as well as technical issues (Schwock et al., 2010).
  
  
Entity Neoplasms of the gastro-intestinal tract
Note Rosivatz et al. (2006) examined Snail expression in adenocarcinomas of the upper gastrointestinal tract. 7.9% (27/340) of their cases were reported with positive staining for Snail. There was no correlation between Snail and E-cadherin expression or Snail and clinicopathological parameters. Natsugoe et al. (2007) examined 194 cases with oesophageal squamous cell carcinoma. 61.7% (84/194) were reported with positive staining. Snail expression was associated with deep invasion, increased lymph node metastasis, and advanced stage. No correlation was found between Snail and E-cadherin expression. Usami et al. (2008) reported a cohort of 72 cases of oesophageal squamous cell carcinoma for which 38% (27/72) were considered positive. Elevated Snail expression was found at the invasion front, and was associated with lymphatic and venous vessel invasion, lymph node metastasis and tumor stage. Furthermore, a recent study by Kim et al. (2009) reported Snail positivity in 42.9% (245/571) of gastric carcinomas where it was associated with invasion and lymph node metastasis. Snail staining was an independent indicator of prognosis by multivariate analysis in this study. Fendrich et al., 2007 examined Snail expression in neuroendocrine tumors of the ileum. 59% (22/37) of the primary tumors and 6 of 7 liver metastases were reported with immunoreactivity for Snail. 53% (16/30) of the neuroendocrine tumors displayed positivity for Snail as well as Sonic Hedgehog. Roy et al. (2005) found a proportion of 78% (46/59) cases with positive staining in their study on colorectal cancers as well as a trend towards increased presence of Snail in tumors with distant metastasis. A more recent study on colorectal cancer by Franci et al. (2009) reported a similarly high proportion of 79% (128/162) of cases with Snail immunoreactivity. Interestingly, in this study a correlation between stromal Snail expression and decreased survival was found.
  
  
Entity Neoplasms of the head and neck
Note Yang et al. (2007) reported a proportion of 37.4% (n=147) of primary head and neck squamous cell carcinomas with positive immunoreactivity for Snail. Snail expression was associated with lymph node metastasis, and co-expression with Nijmegen breakage syndrome 1 (NBS1) indicated short metastasis-free period and overall survival. Another study by Yang et al. (2008) reported a positive correlation between Snail and reduced metastasis-free and overall survival. Peinado et al. (2008) examined a large cohort of laryngeal squamous cell carcinomas for which 16% (40/251) were reported Snail positive including 3% (8/251) high-positive. They found a correlation between Snail and LOXL2 expression, but no association between Snail and disease-free or overall survival. Zidar et al. (2008) reported their findings on two cohorts of head and neck squamous cell carcinomas specifically distinguishing between spindle cell carcinomas and those of moderately differentiated phenotype. 19/30 of the spindle cell, but only 4/30 cases in the moderately differentiated group were found to display positive immunoreactivity. There was no correlation between Snail and E-cadherin expression. Schwock et al. (2010) examined a cohort of 46 cases of oral squamous cell carcinoma including corresponding metastases. Nuclear Snail-positivity equal or in excess of a 5% threshold was observed in 10 tumors and 5 metastases which corresponded to 12 cases. Individual Snail-positive tumor cells below this threshold, however, were present more frequently and found in primary tumors of 30 patients. Snail expression in tumor cells in excess of 10% was rare, but associated with poor outcome by univariate analysis.
  
  
Entity Neoplasms of the genitourinary tract
Note 87 primary endometrioid-type adenocarcinomas of the endometrium and 26 unrelated metastases were examined in a study by Blechschmidt et al. (2007). Among the primary tumors and the metastases a proportion of 28.7% and 53.8% were reported with positive Snail staining, respectively. Snail immunoreactivity in metastases was found to correlate with higher grade and reduced E-cadherin expression. A subsequent study by Blechschmidt et al. (2008) on 48 primary ovarian neoplasms and 50 metastases found Snail immunoreactivity in 37.5% and 52%, respectively. A borderline significant difference in overall survival with Snail expression in metastases was noted. There was no correlation between Snail and E-cadherin expression in this study. A similar study by Jin et al. (2009) examined 41 serous adenocarcinomas of the ovary with 14 matched metastases, 12 serous borderline tumors, 5 cystadenomas and 4 normal ovarian controls. There was a range of Snail immunoreactivity with increased nuclear positivity noted in the carcinoma group. Tuhkanen et al. (2009) compared 74 ovarian carcinomas with 24 borderline tumors, 21 benign ovarian neoplasms and 14 normal controls. Increased nuclear staining was noted with increasing malignancy both in the epithelial as well as the stromal compartment. 23% (17/74) of the ovarian carcinomas were reported to show focal Snail positivity. No association with clinicopathological factors was seen in this study. Heeboll et al., 2009 examined Snail in 327 prostate cancer specimens, 15 specimens with high-grade prostatic intraepithelial neoplasia (PIN), 30 specimens from patients with benign prostatic hyperplasia and 30 benign prostate tissue controls. Approximately 50% of the prostate cancers were found to have high Snail immunoreactivity compared to only 7% of the high-grade PIN specimens. Snail expression in this study was associated with Gleason score, but not with progression or prognosis. Bruyere et al., 2009 studied Snail expression in transitional cell carcinoma of the bladder using a microarray of 87 cases. Strong Snail positivity was found in 43.7% and weak positivity in the remainder of the cases. Snail immunoreactivity in this study was prognostic for tumor recurrence by uni- and multivariate analysis.
  
  
Entity Breast cancer
Note Zhou et al. (2004) reported a study on Snail expression in breast cancer which found positive staining in 56% (72/129) of their cases; 17 with low and 55 with high Snail immunoreactivity. Snail correlated with GSK-3beta inhibition and E-cadherin downregulation, and clinically with metastasis in this study.
  
  
Entity Endocrine neoplasms
Note Waldmann et al. (2008) reported their findings with Snail expression in adrenocortical carcinomas obtained in a study including 26 primary tumors as well as two lymph node and one liver metastases. 65% (17/26) primary tumors showed staining for Snail with strong positivity found at the invasion front of 7 tumors and in 2 of 3 metastases. Snail positivity was associated with advanced stage, decreased survival and higher risk for distant metastases. The same group reported a study on Snail in pheochromocytomas including 44 primary tumors, 3 lymph node and 2 peritoneal metastases (Waldmann et al., 2009). Snail positivity was reported for 28% (13/47) cases, and positive staining was associated with malignant behaviour. Hardy et al. (2007) published their results focused on thyroid neoplasms. 18/31 follicular and 28/32 papillary thyroid cancers as well as all of 4 lymph node metastases of papillary thyroid cancer were found to stain positive for Snail whereas normal thyroid tissue was negative. Snail staining was reported to be restricted to the invasive front and associated with a concomitant reduction in E-cadherin reactivity. The authors of this study also included their findings from a Combi-TA mouse model showing development of papillary thyroid carcinomas. Fendrich et al. (2009) recently published results of a study focused on parathyroid neoplasms including 9 cases of parathyroid carcinoma, 25 adenomas and 25 cases of hyperplasia. Snail staining was positive in all cases of hyperplasia and 22/25 adenomas. In carcinomas a change in staining pattern towards the invasion front was noted.
  
  
Entity Mesenchymal neoplasms
Note Franci et al. (2006) studied Snail in a series of different neoplasm which included sarcomas and infantile fibromatosis as well as epithelial neoplasms (squamous cell carcinoma of the uterine cervix and adenocarcinoma of the colon). High Snail expression was present in fibrosarcomas and other sarcomas. Snail expression in neoplasms of epithelial origin was restricted to the tumor-stroma interface.
  

To be noted

Mouse model.
A CombitTA conditional mouse model of Snail expression has been described without morphological alterations, but associated with the development of both epithelial and mesenchymal tumors (leukemias) (Perez-Mancera et al., 2005). Notably, suppression of the Snail transgene did not rescue the malignant phenotype, indicating that the alterations induced by Snail were irreversible.

Bibliography

Evolutionary history of the Snail/Scratch superfamily.
Barrallo-Gimeno A, Nieto MA.
Trends Genet. 2009 Jun;25(6):248-52. Epub 2009 May 7.
PMID 19427053
 
The transcription factor snail is a repressor of E-cadherin gene expression in epithelial tumour cells.
Batlle E, Sancho E, Franci C, Dominguez D, Monfar M, Baulida J, Garcia De Herreros A.
Nat Cell Biol. 2000 Feb;2(2):84-9.
PMID 10655587
 
Correlation of Snail expression with histological grade and lymph node status in breast carcinomas.
Blanco MJ, Moreno-Bueno G, Sarrio D, Locascio A, Cano A, Palacios J, Nieto MA.
Oncogene. 2002 May 9;21(20):3241-6.
PMID 12082640
 
The E-cadherin repressor Snail is associated with lower overall survival of ovarian cancer patients.
Blechschmidt K, Sassen S, Schmalfeldt B, Schuster T, Hofler H, Becker KF.
Br J Cancer. 2008 Jan 29;98(2):489-95. Epub 2007 Nov 20.
PMID 18026186
 
The Drosophila developmental gene snail encodes a protein with nucleic acid binding fingers.
Boulay JL, Dennefeld C, Alberga A.
Nature. 1987 Nov 26-Dec 2;330(6146):395-8.
PMID 3683556
 
Snail expression is an independent predictor of tumor recurrence in superficial bladder cancers.
Bruyere F, Namdarian B, Corcoran NM, Pedersen J, Ockrim J, Voelzke BB, Mete U, Costello AJ, Hovens CM.
Urol Oncol. 2009 Jan 20. [Epub ahead of print]
PMID 19162513
 
The transcription factor snail controls epithelial-mesenchymal transitions by repressing E-cadherin expression.
Cano A, Perez-Moreno MA, Rodrigo I, Locascio A, Blanco MJ, del Barrio MG, Portillo F, Nieto MA.
Nat Cell Biol. 2000 Feb;2(2):76-83.
PMID 10655586
 
Mechanisms of inactivation of E-cadherin in breast carcinoma: modification of the two-hit hypothesis of tumor suppressor gene.
Cheng CW, Wu PE, Yu JC, Huang CS, Yue CT, Wu CW, Shen CY.
Oncogene. 2001 Jun 28;20(29):3814-23.
PMID 11439345
 
Human SLUG gene organization, expression, and chromosome map location on 8q.
Cohen ME, Yin M, Paznekas WA, Schertzer M, Wood S, Jabs EW.
Genomics. 1998 Aug 1;51(3):468-71.
PMID 9721220
 
The transcription factor snail induces tumor cell invasion through modulation of the epithelial cell differentiation program.
De Craene B, Gilbert B, Stove C, Bruyneel E, van Roy F, Berx G.
Cancer Res. 2005 Jul 15;65(14):6237-44.
PMID 16024625
 
Phosphorylation regulates the subcellular location and activity of the snail transcriptional repressor.
Dominguez D, Montserrat-Sentis B, Virgos-Soler A, Guaita S, Grueso J, Porta M, Puig I, Baulida J, Franci C, Garcia de Herreros A.
Mol Cell Biol. 2003 Jul;23(14):5078-89.
PMID 12832491
 
Snail, Slug, and Smad-interacting protein 1 as novel parameters of disease aggressiveness in metastatic ovarian and breast carcinoma.
Elloul S, Elstrand MB, Nesland JM, Trope CG, Kvalheim G, Goldberg I, Reich R, Davidson B.
Cancer. 2005 Apr 15;103(8):1631-43.
PMID 15742334
 
Unique expression pattern of the EMT markers Snail, Twist and E-cadherin in benign and malignant parathyroid neoplasia.
Fendrich V, Waldmann J, Feldmann G, Schlosser K, Konig A, Ramaswamy A, Bartsch DK, Karakas E.
Eur J Endocrinol. 2009 Apr;160(4):695-703. Epub 2009 Jan 28.
PMID 19176646
 
Snail1 protein in the stroma as a new putative prognosis marker for colon tumours.
Franci C, Gallen M, Alameda F, Baro T, Iglesias M, Virtanen I, Garcia de Herreros A.
PLoS One. 2009;4(5):e5595. Epub 2009 May 18.
PMID 19440385
 
Expression of Snail protein in tumor-stroma interface.
Franci C, Takkunen M, Dave N, Alameda F, Gomez S, Rodriguez R, Escriva M, Montserrat-Sentis B, Baro T, Garrido M, Bonilla F, Virtanen I, Garcia de Herreros A.
Oncogene. 2006 Aug 24;25(37):5134-44. Epub 2006 Mar 27.
PMID 16568079
 
Hepatocyte growth factor induces cell scattering through MAPK/Egr-1-mediated upregulation of Snail.
Grotegut S, von Schweinitz D, Christofori G, Lehembre F.
EMBO J. 2006 Aug 9;25(15):3534-45. Epub 2006 Jul 13.
PMID 16858414
 
Snail family transcription factors are implicated in thyroid carcinogenesis.
Hardy RG, Vicente-Duenas C, Gonzalez-Herrero I, Anderson C, Flores T, Hughes S, Tselepis C, Ross JA, Sanchez-Garcia I.
Am J Pathol. 2007 Sep;171(3):1037-46.
PMID 17724139
 
Theory for epithelial-mesenchymal transformation based on the "fixed cortex" cell motility model.
Hay ED.
Cell Motil Cytoskeleton. 1989;14(4):455-7.
PMID 2696597
 
Snail1 is over-expressed in prostate cancer.
Heeboll S, Borre M, Ottosen PD, Dyrskjot L, Orntoft TF, Torring N.
APMIS. 2009 Mar;117(3):196-204.
PMID 19245592
 
Polycomb complex 2 is required for E-cadherin repression by the Snail1 transcription factor.
Herranz N, Pasini D, Diaz VM, Franci C, Gutierrez A, Dave N, Escriva M, Hernandez-Munoz I, Di Croce L, Helin K, Garcia de Herreros A, Peiro S.
Mol Cell Biol. 2008 Aug;28(15):4772-81. Epub 2008 Jun 2.
PMID 18519590
 
Gene expression profiling to identify genes associated with high-invasiveness in human squamous cell carcinoma with epithelial-to-mesenchymal transition.
Higashikawa K, Yoneda S, Taki M, Shigeishi H, Ono S, Tobiume K, Kamata N.
Cancer Lett. 2008 Jun 18;264(2):256-64. Epub 2008 Mar 10.
PMID 18329791
 
14-3-3 binding sites in the snail protein are essential for snail-mediated transcriptional repression and epithelial-mesenchymal differentiation.
Hou Z, Peng H, White DE, Wang P, Lieberman PM, Halazonetis T, Rauscher FJ 3rd.
Cancer Res. 2010 Jun 1;70(11):4385-93. Epub 2010 May 25.
PMID 20501852
 
Hypoxia attenuates the expression of E-cadherin via up-regulation of SNAIL in ovarian carcinoma cells.
Imai T, Horiuchi A, Wang C, Oka K, Ohira S, Nikaido T, Konishi I.
Am J Pathol. 2003 Oct;163(4):1437-47.
PMID 14507651
 
SNAI transcription factors mediate epithelial-mesenchymal transition in lung fibrosis.
Jayachandran A, Konigshoff M, Yu H, Rupniewska E, Hecker M, Klepetko W, Seeger W, Eickelberg O.
Thorax. 2009 Dec;64(12):1053-61. Epub 2009 Oct 22.
PMID 19850962
 
Snail is critical for tumor growth and metastasis of ovarian carcinoma.
Jin H, Yu Y, Zhang T, Zhou X, Zhou J, Jia L, Wu Y, Zhou BP, Feng Y.
Int J Cancer. 2010 May 1;126(9):2102-11.
PMID 19795442
 
Aberrant expression of the transcription factors snail and slug alters the response to genotoxic stress.
Kajita M, McClinic KN, Wade PA.
Mol Cell Biol. 2004 Sep;24(17):7559-66.
PMID 15314165
 
The basics of epithelial-mesenchymal transition.
Kalluri R, Weinberg RA.
J Clin Invest. 2009 Jun;119(6):1420-8. doi: 10.1172/JCI39104. (REVIEW)
PMID 19487818
 
Identification and characterization of human SNAIL3 (SNAI3) gene in silico.
Katoh M, Katoh M.
Int J Mol Med. 2003 Mar;11(3):383-8.
PMID 12579345
 
Prognostic importance of epithelial-mesenchymal transition-related protein expression in gastric carcinoma.
Kim MA, Lee HS, Lee HE, Kim JH, Yang HK, Kim WH.
Histopathology. 2009 Mar;54(4):442-51.
PMID 19309396
 
Cancer metastasis is accelerated through immunosuppression during Snail-induced EMT of cancer cells.
Kudo-Saito C, Shirako H, Takeuchi T, Kawakami Y.
Cancer Cell. 2009 Mar 3;15(3):195-206.
PMID 19249678
 
Snail and slug mediate radioresistance and chemoresistance by antagonizing p53-mediated apoptosis and acquiring a stem-like phenotype in ovarian cancer cells.
Kurrey NK, Jalgaonkar SP, Joglekar AV, Ghanate AD, Chaskar PD, Doiphode RY, Bapat SA.
Stem Cells. 2009 Sep;27(9):2059-68.
PMID 19544473
 
Snail-related transcriptional repressors are required in Xenopus for both the induction of the neural crest and its subsequent migration.
LaBonne C, Bronner-Fraser M.
Dev Biol. 2000 May 1;221(1):195-205.
PMID 10772801
 
twist and snail as positive and negative regulators during Drosophila mesoderm development.
Leptin M.
Genes Dev. 1991 Sep;5(9):1568-76.
PMID 1884999
 
The SNAG domain of Snail1 functions as a molecular hook for recruiting lysine-specific demethylase 1.
Lin Y, Wu Y, Li J, Dong C, Ye X, Chi YI, Evers BM, Zhou BP.
EMBO J. 2010 Jun 2;29(11):1803-16. Epub 2010 Apr 13.
PMID 20389281
 
Phosphorylation of serine 11 and serine 92 as new positive regulators of human Snail1 function: potential involvement of casein kinase-2 and the cAMP-activated kinase protein kinase A.
MacPherson MR, Molina P, Souchelnytskyi S, Wernstedt C, Martin-Perez J, Portillo F, Cano A.
Mol Biol Cell. 2010 Jan 15;21(2):244-53. Epub 2009 Nov 18.
PMID 19923321
 
The epithelial-mesenchymal transition generates cells with properties of stem cells.
Mani SA, Guo W, Liao MJ, Eaton EN, Ayyanan A, Zhou AY, Brooks M, Reinhard F, Zhang CC, Shipitsin M, Campbell LL, Polyak K, Brisken C, Yang J, Weinberg RA.
Cell. 2008 May 16;133(4):704-15.
PMID 18485877
 
Characterization of Snail nuclear import pathways as representatives of C2H2 zinc finger transcription factors.
Mingot JM, Vega S, Maestro B, Sanz JM, Nieto MA.
J Cell Sci. 2009 May 1;122(Pt 9):1452-60.
PMID 19386897
 
Snail accelerates cancer invasion by upregulating MMP expression and is associated with poor prognosis of hepatocellular carcinoma.
Miyoshi A, Kitajima Y, Kido S, Shimonishi T, Matsuyama S, Kitahara K, Miyazaki K.
Br J Cancer. 2005 Jan 31;92(2):252-8.
PMID 15668718
 
The transcriptional repressor Snail promotes mammary tumor recurrence.
Moody SE, Perez D, Pan TC, Sarkisian CJ, Portocarrero CP, Sterner CJ, Notorfrancesco KL, Cardiff RD, Chodosh LA.
Cancer Cell. 2005 Sep;8(3):197-209.
PMID 16169465
 
Generation of breast cancer stem cells through epithelial-mesenchymal transition.
Morel AP, Lievre M, Thomas C, Hinkal G, Ansieau S, Puisieux A.
PLoS One. 2008 Aug 6;3(8):e2888.
PMID 18682804
 
Snail plays a key role in E-cadherin-preserved esophageal squamous cell carcinoma.
Natsugoe S, Uchikado Y, Okumura H, Matsumoto M, Setoyama T, Tamotsu K, Kita Y, Sakamoto A, Owaki T, Ishigami S, Aikou T.
Oncol Rep. 2007 Mar;17(3):517-23.
PMID 17273727
 
The snail superfamily of zinc-finger transcription factors.
Nieto MA.
Nat Rev Mol Cell Biol. 2002 Mar;3(3):155-66. (REVIEW)
PMID 11994736
 
The transcription factor SNAIL represses vitamin D receptor expression and responsiveness in human colon cancer.
Palmer HG, Larriba MJ, Garcia JM, Ordonez-Moran P, Pena C, Peiro S, Puig I, Rodriguez R, de la Fuente R, Bernad A, Pollan M, Bonilla F, Gamallo C, de Herreros AG, Munoz A.
Nat Med. 2004 Sep;10(9):917-9. Epub 2004 Aug 22.
PMID 15322538
 
A 3' enhancer controls snail expression in melanoma cells.
Palmer MB, Majumder P, Green MR, Wade PA, Boss JM.
Cancer Res. 2007 Jul 1;67(13):6113-20.
PMID 17616667
 
Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P).
Paznekas WA, Okajima K, Schertzer M, Wood S, Jabs EW.
Genomics. 1999 Nov 15;62(1):42-9.
PMID 10585766
 
Snail mediates E-cadherin repression by the recruitment of the Sin3A/histone deacetylase 1 (HDAC1)/HDAC2 complex.
Peinado H, Ballestar E, Esteller M, Cano A.
Mol Cell Biol. 2004 Jan;24(1):306-19.
PMID 14673164
 
A molecular role for lysyl oxidase-like 2 enzyme in snail regulation and tumor progression.
Peinado H, Del Carmen Iglesias-de la Cruz M, Olmeda D, Csiszar K, Fong KS, Vega S, Nieto MA, Cano A, Portillo F.
EMBO J. 2005 Oct 5;24(19):3446-58. Epub 2005 Aug 18.
PMID 16096638
 
Lysyl oxidase-like 2 as a new poor prognosis marker of squamous cell carcinomas.
Peinado H, Moreno-Bueno G, Hardisson D, Perez-Gomez E, Santos V, Mendiola M, de Diego JI, Nistal M, Quintanilla M, Portillo F, Cano A.
Cancer Res. 2008 Jun 15;68(12):4541-50.
PMID 18559498
 
Snail, Zeb and bHLH factors in tumour progression: an alliance against the epithelial phenotype?
Peinado H, Olmeda D, Cano A.
Nat Rev Cancer. 2007 Jun;7(6):415-28. Epub 2007 May 17. (REVIEW)
PMID 17508028
 
Snail1 transcriptional repressor binds to its own promoter and controls its expression.
Peiro S, Escriva M, Puig I, Barbera MJ, Dave N, Herranz N, Larriba MJ, Takkunen M, Franci C, Munoz A, Virtanen I, Baulida J, Garcia de Herreros A.
Nucleic Acids Res. 2006 Apr 14;34(7):2077-84. Print 2006.
PMID 16617148
 
SNAI1 expression in colon cancer related with CDH1 and VDR downregulation in normal adjacent tissue.
Pena C, Garcia JM, Larriba MJ, Barderas R, Gomez I, Herrera M, Garcia V, Silva J, Dominguez G, Rodriguez R, Cuevas J, de Herreros AG, Casal JI, Munoz A, Bonilla F.
Oncogene. 2009 Dec 10;28(49):4375-85.
PMID 19802011
 
Cancer development induced by graded expression of Snail in mice.
Perez-Mancera PA, Perez-Caro M, Gonzalez-Herrero I, Flores T, Orfao A, de Herreros AG, Gutierrez-Adan A, Pintado B, Sagrera A, Sanchez-Martin M, Sanchez-Garcia I.
Hum Mol Genet. 2005 Nov 15;14(22):3449-61. Epub 2005 Oct 5.
PMID 16207734
 
Expression and nuclear localization of Snail, an E-cadherin repressor, in adenocarcinomas of the upper gastrointestinal tract.
Rosivatz E, Becker KF, Kremmer E, Schott C, Blechschmidt K, Hofler H, Sarbia M.
Virchows Arch. 2006 Mar;448(3):277-87. Epub 2005 Nov 17.
PMID 16328348
 
The transcriptional repressor SNAIL is overexpressed in human colon cancer.
Roy HK, Smyrk TC, Koetsier J, Victor TA, Wali RK.
Dig Dis Sci. 2005 Jan;50(1):42-6.
PMID 15712635
 
E-cadherin mutation and Snail overexpression as alternative mechanisms of E-cadherin inactivation in synovial sarcoma.
Saito T, Oda Y, Kawaguchi K, Sugimachi K, Yamamoto H, Tateishi N, Tanaka K, Matsuda S, Iwamoto Y, Ladanyi M, Tsuneyoshi M.
Oncogene. 2004 Nov 11;23(53):8629-38.
PMID 15467754
 
Targeted disruption of TGF-beta1/Smad3 signaling protects against renal tubulointerstitial fibrosis induced by unilateral ureteral obstruction.
Sato M, Muragaki Y, Saika S, Roberts AB, Ooshima A.
J Clin Invest. 2003 Nov;112(10):1486-94.
PMID 14617750
 
SNAI1 expression and the mesenchymal phenotype: an immunohistochemical study performed on 46 cases of oral squamous cell carcinoma.
Schwock J, Bradley G, Ho JC, Perez-Ordonez B, Hedley DW, Irish JC, Geddie WR.
BMC Clin Pathol. 2010 Feb 5;10:1.
PMID 20181105
 
Transcriptional repressor snail and progression of human hepatocellular carcinoma.
Sugimachi K, Tanaka S, Kameyama T, Taguchi K, Aishima S, Shimada M, Sugimachi K, Tsuneyoshi M.
Clin Cancer Res. 2003 Jul;9(7):2657-64.
PMID 12855644
 
E-cadherin expression in patients with esophageal squamous cell carcinoma: promoter hypermethylation, Snail overexpression, and clinicopathologic implications.
Takeno S, Noguchi T, Fumoto S, Kimura Y, Shibata T, Kawahara K.
Am J Clin Pathol. 2004 Jul;122(1):78-84.
PMID 15272533
 
Epithelial-mesenchymal transitions in tumour progression.
Thiery JP.
Nat Rev Cancer. 2002 Jun;2(6):442-54. (REVIEW)
PMID 12189386
 
HMGA2 and Smads co-regulate SNAIL1 expression during induction of epithelial-to-mesenchymal transition.
Thuault S, Tan EJ, Peinado H, Cano A, Heldin CH, Moustakas A.
J Biol Chem. 2008 Nov 28;283(48):33437-46. Epub 2008 Oct 1
PMID 18832382
 
Nuclear expression of Snail1 in borderline and malignant epithelial ovarian tumours is associated with tumour progression.
Tuhkanen H, Soini Y, Kosma VM, Anttila M, Sironen R, Hamalainen K, Kukkonen L, Virtanen I, Mannermaa A.
BMC Cancer. 2009 Aug 20;9:289.
PMID 19695091
 
Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis.
Twigg SR, Wilkie AO.
Hum Genet. 1999 Oct;105(4):320-6.
PMID 10543399
 
Snail-associated epithelial-mesenchymal transition promotes oesophageal squamous cell carcinoma motility and progression.
Usami Y, Satake S, Nakayama F, Matsumoto M, Ohnuma K, Komori T, Semba S, Ito A, Yokozaki H.
J Pathol. 2008 Jul;215(3):330-9.
PMID 18491351
 
The hypoxia-controlled FBXL14 ubiquitin ligase targets SNAIL1 for proteasome degradation.
Vinas-Castells R, Beltran M, Valls G, Gomez I, Garcia JM, Montserrat-Sentis B, Baulida J, Bonilla F, de Herreros AG, Diaz VM.
J Biol Chem. 2010 Feb 5;285(6):3794-805. Epub 2009 Dec 2.
PMID 19955572
 
Expression of the transcription factor snail and its target gene twist are associated with malignancy in pheochromocytomas.
Waldmann J, Slater EP, Langer P, Buchholz M, Ramaswamy A, Walz MK, Schmid KW, Feldmann G, Bartsch DK, Fendrich V.
Ann Surg Oncol. 2009 Jul;16(7):1997-2005. Epub 2009 May 2.
PMID 19412634
 
Small C-terminal domain phosphatase enhances snail activity through dephosphorylation.
Wu Y, Evers BM, Zhou BP.
J Biol Chem. 2009 Jan 2;284(1):640-8. Epub 2008 Nov 12.
PMID 19004823
 
Peritoneal dialysis and epithelial-to-mesenchymal transition of mesothelial cells.
Yanez-Mo M, Lara-Pezzi E, Selgas R, Ramirez-Huesca M, Dominguez-Jimenez C, Jimenez-Heffernan JA, Aguilera A, Sanchez-Tomero JA, Bajo MA, Alvarez V, Castro MA, del Peso G, Cirujeda A, Gamallo C, Sanchez-Madrid F, Lopez-Cabrera M.
N Engl J Med. 2003 Jan 30;348(5):403-13.
PMID 12556543
 
Overexpression of NBS1 induces epithelial-mesenchymal transition and co-expression of NBS1 and Snail predicts metastasis of head and neck cancer.
Yang MH, Chang SY, Chiou SH, Liu CJ, Chi CW, Chen PM, Teng SC, Wu KJ.
Oncogene. 2007 Mar 1;26(10):1459-67. Epub 2006 Aug 28.
PMID 16936774
 
Direct regulation of TWIST by HIF-1alpha promotes metastasis.
Yang MH, Wu MZ, Chiou SH, Chen PM, Chang SY, Liu CJ, Teng SC, Wu KJ.
Nat Cell Biol. 2008 Mar;10(3):295-305. Epub 2008 Feb 24.
PMID 18297062
 
Pak1 phosphorylation of snail, a master regulator of epithelial-to-mesenchyme transition, modulates snail's subcellular localization and functions.
Yang Z, Rayala S, Nguyen D, Vadlamudi RK, Chen S, Kumar R.
Cancer Res. 2005 Apr 15;65(8):3179-84.
PMID 15833848
 
Dual regulation of Snail by GSK-3beta-mediated phosphorylation in control of epithelial-mesenchymal transition.
Zhou BP, Deng J, Xia W, Xu J, Li YM, Gunduz M, Hung MC.
Nat Cell Biol. 2004 Oct;6(10):931-40. Epub 2004 Sep 26.
PMID 15448698
 
Cadherin-catenin complex and transcription factor Snail-1 in spindle cell carcinoma of the head and neck.
Zidar N, Gale N, Kojc N, Volavsek M, Cardesa A, Alos L, Hofler H, Blechschmidt K, Becker KF.
Virchows Arch. 2008 Sep;453(3):267-74. Epub 2008 Aug 19.
PMID 18712413
 
Snail family regulation and epithelial mesenchymal transitions in breast cancer progression.
de Herreros AG, Peiro S, Nassour M, Savagner P.
J Mammary Gland Biol Neoplasia. 2010 Jun;15(2):135-47. Epub 2010 May 9.
PMID 20455012
 

Citation

This paper should be referenced as such :
Schwock, J ; Geddie, WR
SNAI1 (snail homolog 1 (Drosophila))
Atlas Genet Cytogenet Oncol Haematol. 2011;15(5):428-435.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/SNAI1ID452ch20q13.html


External links

Nomenclature
HGNC (Hugo)SNAI1   11128
Cards
AtlasSNAI1ID452ch20q13
Entrez_Gene (NCBI)SNAI1  6615  snail family transcriptional repressor 1
AliasesSLUGH2; SNA; SNAH; SNAIL; 
SNAIL1; dJ710H13.1
GeneCards (Weizmann)SNAI1
Ensembl hg19 (Hinxton)ENSG00000124216 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124216 [Gene_View]  chr20:49982976-49988883 [Contig_View]  SNAI1 [Vega]
ICGC DataPortalENSG00000124216
TCGA cBioPortalSNAI1
AceView (NCBI)SNAI1
Genatlas (Paris)SNAI1
WikiGenes6615
SOURCE (Princeton)SNAI1
Genetics Home Reference (NIH)SNAI1
Genomic and cartography
GoldenPath hg38 (UCSC)SNAI1  -     chr20:49982976-49988883 +  20q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SNAI1  -     20q13.13   [Description]    (hg19-Feb_2009)
EnsemblSNAI1 - 20q13.13 [CytoView hg19]  SNAI1 - 20q13.13 [CytoView hg38]
Mapping of homologs : NCBISNAI1 [Mapview hg19]  SNAI1 [Mapview hg38]
OMIM604238   
Gene and transcription
Genbank (Entrez)AF125377 AF131208 AK313228 BC012910 BI822180
RefSeq transcript (Entrez)NM_005985
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SNAI1
Cluster EST : UnigeneHs.48029 [ NCBI ]
CGAP (NCI)Hs.48029
Alternative Splicing GalleryENSG00000124216
Gene ExpressionSNAI1 [ NCBI-GEO ]   SNAI1 [ EBI - ARRAY_EXPRESS ]   SNAI1 [ SEEK ]   SNAI1 [ MEM ]
Gene Expression Viewer (FireBrowse)SNAI1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6615
GTEX Portal (Tissue expression)SNAI1
Human Protein AtlasENSG00000124216-SNAI1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95863   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95863  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95863
Splice isoforms : SwissVarO95863
PhosPhoSitePlusO95863
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Domain families : Pfam (Sanger)zf-C2H2 (PF00096)    zf-C2H2_6 (PF13912)   
Domain families : Pfam (NCBI)pfam00096    pfam13912   
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)SNAI1
DMDM Disease mutations6615
Blocks (Seattle)SNAI1
PDB (SRS)2Y48    3W5K    4QLI   
PDB (PDBSum)2Y48    3W5K    4QLI   
PDB (IMB)2Y48    3W5K    4QLI   
PDB (RSDB)2Y48    3W5K    4QLI   
Structural Biology KnowledgeBase2Y48    3W5K    4QLI   
SCOP (Structural Classification of Proteins)2Y48    3W5K    4QLI   
CATH (Classification of proteins structures)2Y48    3W5K    4QLI   
SuperfamilyO95863
Human Protein Atlas [tissue]ENSG00000124216-SNAI1 [tissue]
Peptide AtlasO95863
HPRD05025
IPIIPI00000757   
Protein Interaction databases
DIP (DOE-UCLA)O95863
IntAct (EBI)O95863
FunCoupENSG00000124216
BioGRIDSNAI1
STRING (EMBL)SNAI1
ZODIACSNAI1
Ontologies - Pathways
QuickGOO95863
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  osteoblast differentiation  mesoderm formation  epithelial to mesenchymal transition  epithelial to mesenchymal transition  epithelial to mesenchymal transition involved in endocardial cushion formation  protein binding  nucleus  nucleus  cytoplasm  cytoplasm  positive regulation of epithelial to mesenchymal transition  positive regulation of epithelial to mesenchymal transition  negative regulation of vitamin D biosynthetic process  cell migration  kinase binding  positive regulation of cell migration  hair follicle morphogenesis  negative regulation of DNA damage response, signal transduction by p53 class mediator  positive regulation of transcription, DNA-templated  metal ion binding  palate development  cartilage morphogenesis  trophoblast giant cell differentiation  negative regulation of cell differentiation involved in embryonic placenta development  left/right pattern formation  Notch signaling involved in heart development  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage  regulation of bicellular tight junction assembly  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  osteoblast differentiation  mesoderm formation  epithelial to mesenchymal transition  epithelial to mesenchymal transition  epithelial to mesenchymal transition involved in endocardial cushion formation  protein binding  nucleus  nucleus  cytoplasm  cytoplasm  positive regulation of epithelial to mesenchymal transition  positive regulation of epithelial to mesenchymal transition  negative regulation of vitamin D biosynthetic process  cell migration  kinase binding  positive regulation of cell migration  hair follicle morphogenesis  negative regulation of DNA damage response, signal transduction by p53 class mediator  positive regulation of transcription, DNA-templated  metal ion binding  palate development  cartilage morphogenesis  trophoblast giant cell differentiation  negative regulation of cell differentiation involved in embryonic placenta development  left/right pattern formation  Notch signaling involved in heart development  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage  regulation of bicellular tight junction assembly  
Pathways : BIOCARTADownregulated of MTA-3 in ER-negative Breast Tumors [Genes]   
Pathways : KEGGAdherens junction   
NDEx NetworkSNAI1
Atlas of Cancer Signalling NetworkSNAI1
Wikipedia pathwaysSNAI1
Orthology - Evolution
OrthoDB6615
GeneTree (enSembl)ENSG00000124216
Phylogenetic Trees/Animal Genes : TreeFamSNAI1
HOVERGENO95863
HOGENOMO95863
Homologs : HomoloGeneSNAI1
Homology/Alignments : Family Browser (UCSC)SNAI1
Gene fusions - Rearrangements
Fusion : MitelmanSNAI1/PFDN4 [20q13.13/20q13.2]  
Fusion : MitelmanSNAI1/SLC9A8 [20q13.13/20q13.13]  [t(20;20)(q13;q13)]  
Fusion: TCGASNAI1 20q13.13 PFDN4 20q13.2 LUAD
Fusion: TCGASNAI1 20q13.13 SLC9A8 20q13.13 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSNAI1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SNAI1
dbVarSNAI1
ClinVarSNAI1
1000_GenomesSNAI1 
Exome Variant ServerSNAI1
ExAC (Exome Aggregation Consortium)ENSG00000124216
GNOMAD BrowserENSG00000124216
Genetic variants : HAPMAP6615
Genomic Variants (DGV)SNAI1 [DGVbeta]
DECIPHERSNAI1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSNAI1 
Mutations
ICGC Data PortalSNAI1 
TCGA Data PortalSNAI1 
Broad Tumor PortalSNAI1
OASIS PortalSNAI1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSNAI1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSNAI1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SNAI1
DgiDB (Drug Gene Interaction Database)SNAI1
DoCM (Curated mutations)SNAI1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SNAI1 (select a term)
intoGenSNAI1
NCG5 (London)SNAI1
Cancer3DSNAI1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604238   
Orphanet
MedgenSNAI1
Genetic Testing Registry SNAI1
NextProtO95863 [Medical]
TSGene6615
GENETestsSNAI1
Target ValidationSNAI1
Huge Navigator SNAI1 [HugePedia]
snp3D : Map Gene to Disease6615
BioCentury BCIQSNAI1
ClinGenSNAI1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6615
Chemical/Pharm GKB GenePA35977
Clinical trialSNAI1
Miscellaneous
canSAR (ICR)SNAI1 (select the gene name)
Probes
Litterature
PubMed356 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSNAI1
EVEXSNAI1
GoPubMedSNAI1
iHOPSNAI1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Oct 12 16:34:04 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.