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ID1 (inhibitor of DNA binding 1, dominant negative helix-loop-helix protein)

Written2012-09Eduardo Castañón, Ignacio Gil-Bazo
New target therapies laboratory, Division of Oncology, Center for Applied Medical Research, 31621 Pamplona, Spain

(Note : for Links provided by Atlas : click)

Identity

Alias_namesinhibitor of DNA binding 1
Alias_symbol (synonym)dJ857M17.1.2
bHLHb24
Other aliasID
HGNC (Hugo) ID1
LocusID (NCBI) 3397
Atlas_Id 40914
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 31605283 and ends at 31606514 bp from pter ( according to hg19-Feb_2009)  [Mapping ID1.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)

DNA/RNA

 
Description DNA contains 1239 bp encoding 2 coding exons.
Transcription Id1 gene has 2 transcripts, called Id1-001 (or Id1A) and Id-1-002 (or Id1B). mRNA Id1A contains 994 bps whereas mRNA Id1B contains 1233 bps. Id1A is considered the "canonical sequence".

Protein

Description ID1 belongs to the helix-loop-helix protein family. It is composed by 155 aa. It has a main domain located on 143-155 aa responsible for the helix-loop-helix conformation. Its main motif, encoded by 14 aa is responsible for the nuclear export signaling.
Expression High levels of ID1 are found in brain, liver, lung, skin and thyroid gland cells. It is also expressed in fetal cells and in the umbilical vein endothelial cell.
Localisation Nucleus.
Function Although it does not bind directly to DNA, by binding basic helix-loop-helix transcription factors through its HLH motif, ID1 may control tissue-specific genes related to cell growth, proliferation, differentiation and angiogenesis.
Homology H.sapiens: ID1; P.troglodytes: ID1; C.lupus: ID1; B.taurus: ID1; M.musculus: Id1; R.norvegicus: Id1; G.gallus: ID1; D.rerio: id1.

Mutations

Germinal No germinal mutations have been reported.
Somatic No somatic mutations have been reported.

Implicated in

Note
  
Entity Non small cell lung cancer
Note ID1 levels are correlated with a worse prognosis in lung adenocarcinoma in both, disease free survival and overall survival. A higher expression of Id1 has been reported in squamous cell carcinoma and adenocarcinoma of the lung. ID1 expression are detected in more resistant tumors to either chemo and radiation therapy. When silencing Id1 in in vitro models, a reversal of resistance to the treatment (both chemotherapy and radiation) was observed.
  
  
Entity Gastric cancer
Note Gastric cancer prognosis has also been linked to ID1 expression levels. Whereas poor differentiated gastric tumors express higher levels of ID1, those gastric cancers with a higher differentiation, and thus, a better prognosis, express a lower quantity of ID1. Nevertheless, the impact of ID1 expression on clinical outcome has not reached statistical significance when a multivariate analysis was carried out.
  
  
Entity Breast cancer
Note In breast cancer, especially in those node negative tumors, ID1 expression has become an independent prognostic factor. Higher levels of ID1 are related to a worse prognosis (measured by both, overall survival and disease free survival). This may be explained by the possible relation between ID1 and the steroid-receptor, this latter considered a factor which may change therapeutic options in breast cancer patients.
  
  
Entity Prostate cancer
Note In prostate cancer it has been observed that levels of ID1 are correlated to the grade of differentiation measured by the Gleason score, detecting higher levels of ID1 in those prostate tumors with a higher Gleason score. Comparing prostate cancer with benign prostate hyperplasia, ID1 expression differences may also be seen; ID1 is not expressed in benign prostate hyperplasia (BPH), whereas ID1 expression is remarkably higher in prostate cancer cells.
  
  
Entity Melanoma
Note In melanoma ID1 is also positively related to tumor thickness and also with overall survival. Also, ID1 is highly expressed in those BRAF mutated melanomas compared to BRAF wild type melanomas. ID1 negative regulates CDKN2A, which has been related to malignant melanoma development. ID1 is expressed in the earliest stages of melanoma.
  
  
Entity Glioblastoma
Note In recent studies, ID1 has been catalogued as a marker of brain stem cells localized at the perivascular niche. Those stem cells with higher levels of ID1 have a major capability of tumor initiation and therapeutic resistance.
  
  
Entity Hepatocarcinoma
Note In Hepatitis B virus-induced hepatocarcinoma, levels of ID1 may predict both disease free survival and overall survival, in a negative manner. Also, ID1 has been related to bad prognostic features such as portal vein invasion, lymph node metastasis and a worse Child Pugh grade.
  
  
Entity Anaplastic thyroid tumor
Note ID1 is highly expressed in anaplastic thyroid tumors rather than in regular thyroid cells; it may be explained by the role ID1 plays on cell growth and differentiation.
  
  
Entity Neurogenesis
Note Lacking of Id1 alleles (with simultaneous Id3 downregulation) triggers neural differentiation in mice embryos development resulting in a lethal event. It has also been reported that when Id1 and Id3 are not expressed, vascular sprouting in brain does not occur.
  
  
Entity Heart and vessel formation
Note Id1 has also being related to play a crucial role in heart development, since Id1 knockout mice showed ventricular defects and myocardium trabeculation impairment. ID1 is also expressed in endothelial progenitor cells, and its suppression is related to angiogenesis inhibition and in a blockade of endothelial cells mobilization.
  
  
Entity Hematopoiesis
Note Higher ID1 levels are found in pro-B cells, whereas it is downregulated in pre-B and mature cells. When blocking Id1 in those cells, B-cell development is disrupted.
  
  
Entity Metastasis
Note Higher levels of ID1 expression are found in those breast cancers which are more prone to metastasize to the lung. Id1 has been described as part of the genes signature for breast cancer metastasis to the lung.
  
  
Entity Stemcellness and selfrenewal
Note Satellite cells are muscle stem cells related to injured muscle renewal. ID1 expression has been recently correlated to muscle stem cell self-renewal ability, showing that when ID1 is expressed, a higher capability of self-renewal may be observed. Culture cells with high ID1 expression, may retain selfrenewal ability after several passages comparing to those cells with lower levels of ID1.
Stem cells are characterized by their anchorage to an special microenviroment, also known as niche. ID1, by repressing the activation of Rap1GAP (an inhibitor of an important neural cell adhesion protein known as RAP1) assure stem cell joints to the niche. When ID1 is downregulated, neural stem cells detach from the brain stem cell niches, such as the ventricular zone in embryonic brain and the subventricular zone of post-nata brain. This detachment from the niches, may also trigger neuronal and oligodendrogial differentiation.
  

Bibliography

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Anido J, Saez-Borderias A, Gonzalez-Junca A, Rodon L, Folch G, Carmona MA, Prieto-Sanchez RM, Barba I, Martinez-Saez E, Prudkin L, Cuartas I, Raventos C, Martinez-Ricarte F, Poca MA, Garcia-Dorado D, Lahn MM, Yingling JM, Rodon J, Sahuquillo J, Baselga J, Seoane J.
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The Id proteins and angiogenesis.
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Role of Id proteins in embryonic and tumor angiogenesis.
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Trends Cardiovasc Med. 2001 Aug;11(6):237-41.
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Id1 promotes tumor cell migration in nonsmall cell lung cancers.
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PMID 20414347
 
Id1 promotes lung cancer cell proliferation and tumor growth through Akt-related pathway.
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Id-1-induced Raf/MEK pathway activation is essential for its protective role against taxol-induced apoptosis in nasopharyngeal carcinoma cells.
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Id1 restrains p21 expression to control endothelial progenitor cell formation.
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PMID 18092003
 
A novel pathway for mammary epithelial cell invasion induced by the helix-loop-helix protein Id-1.
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Mol Cell Biol. 1998 Aug;18(8):4577-88.
PMID 9671467
 
Overexpressed Id-1 is associated with patient prognosis and HBx expression in hepatitis B virus-related hepatocellular carcinoma.
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PMID 20574154
 
The gene for the helix-loop-helix protein, Id, is specifically expressed in neural precursors.
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PMID 1426618
 
Regulation of Id1 expression by SRC: implications for targeting of the bone morphogenetic protein pathway in cancer.
Gautschi O, Tepper CG, Purnell PR, Izumiya Y, Evans CP, Green TP, Desprez PY, Lara PN, Gandara DR, Mack PC, Kung HJ.
Cancer Res. 2008 Apr 1;68(7):2250-8.
PMID 18381431
 
ID genes mediate tumor reinitiation during breast cancer lung metastasis.
Gupta GP, Perk J, Acharyya S, de Candia P, Mittal V, Todorova-Manova K, Gerald WL, Brogi E, Benezra R, Massague J.
Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19506-11. Epub 2007 Nov 28.
PMID 18048329
 
Id-related genes encoding helix-loop-helix proteins are required for G1 progression and are repressed in senescent human fibroblasts.
Hara E, Yamaguchi T, Nojima H, Ide T, Campisi J, Okayama H, Oda K.
J Biol Chem. 1994 Jan 21;269(3):2139-45.
PMID 8294468
 
Id1 restrains myeloid commitment, maintaining the self-renewal capacity of hematopoietic stem cells.
Jankovic V, Ciarrocchi A, Boccuni P, DeBlasio T, Benezra R, Nimer SD.
Proc Natl Acad Sci U S A. 2007 Jan 23;104(4):1260-5. Epub 2007 Jan 16.
PMID 17227850
 
Inhibition of tumourigenicity of small cell lung cancer cells by suppressing Id3 expression.
Kamalian L, Forootan SS, Bao ZZ, Zhang Y, Gosney JR, Foster CS, Ke Y.
Int J Oncol. 2010 Sep;37(3):595-603.
PMID 20664928
 
Overexpression of Id-1 is significantly associated with tumour angiogenesis in human pancreas cancers.
Lee KT, Lee YW, Lee JK, Choi SH, Rhee JC, Paik SS, Kong G.
Br J Cancer. 2004 Mar 22;90(6):1198-203.
PMID 15026801
 
Over-expression of Id-1 induces cell proliferation in hepatocellular carcinoma through inactivation of p16INK4a/RB pathway.
Lee TK, Man K, Ling MT, Wang XH, Wong YC, Lo CM, Poon RT, Ng IO, Fan ST.
Carcinogenesis. 2003 Nov;24(11):1729-36. Epub 2003 Aug 29.
PMID 12949053
 
The multiple roles of Id-1 in cancer progression.
Ling MT, Wang X, Zhang X, Wong YC.
Differentiation. 2006 Dec;74(9-10):481-7.
PMID 17177845
 
Downregulation of Id1 by small interfering RNA in prostate cancer PC3 cells in vivo and in vitro.
Ling YX, Tao J, Fang SF, Hui Z, Fang QR.
Eur J Cancer Prev. 2011 Jan;20(1):9-17.
PMID 20881502
 
Expression and prognostic relevance of Id1 in stage III esophageal squamous cell carcinoma.
Liu J, Hu Y, Hu W, Xie X, Ela Bella A, Fu J.
Cancer Biomark. 2010-2011;8(2):67-72. doi: 10.3233/DMA-2011-0831.
PMID 21896993
 
Id1 and Id3 are required for neurogenesis, angiogenesis and vascularization of tumour xenografts.
Lyden D, Young AZ, Zagzag D, Yan W, Gerald W, O'Reilly R, Bader BL, Hynes RO, Zhuang Y, Manova K, Benezra R.
Nature. 1999 Oct 14;401(6754):670-7.
PMID 10537105
 
Chromosomal assignment of human ID1 and ID2 genes.
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PMID 8586447
 
Using the transcription factor inhibitor of DNA binding 1 to selectively target endothelial progenitor cells offers novel strategies to inhibit tumor angiogenesis and growth.
Mellick AS, Plummer PN, Nolan DJ, Gao D, Bambino K, Hahn M, Catena R, Turner V, McDonnell K, Benezra R, Brink R, Swarbrick A, Mittal V.
Cancer Res. 2010 Sep 15;70(18):7273-82. Epub 2010 Aug 31.
PMID 20807818
 
Targeting Id1 and Id3 by a specific peptide aptamer induces E-box promoter activity, cell cycle arrest, and apoptosis in breast cancer cells.
Mern DS, Hoppe-Seyler K, Hoppe-Seyler F, Hasskarl J, Burwinkel B.
Breast Cancer Res Treat. 2010 Dec;124(3):623-33. Epub 2010 Feb 27.
PMID 20191379
 
High levels of Id1 expression define B1 type adult neural stem cells.
Nam HS, Benezra R.
Cell Stem Cell. 2009 Nov 6;5(5):515-26.
PMID 19896442
 
Id proteins synchronize stemness and anchorage to the niche of neural stem cells.
Niola F, Zhao X, Singh D, Castano A, Sullivan R, Lauria M, Nam HS, Zhuang Y, Benezra R, Di Bernardo D, Iavarone A, Lasorella A.
Nat Cell Biol. 2012 Apr 22;14(5):477-87. doi: 10.1038/ncb2490.
PMID 22522171
 
Id1 gene transfer confers angiogenic property on fully differentiated endothelial cells and contributes to therapeutic angiogenesis.
Nishiyama K, Takaji K, Kataoka K, Kurihara Y, Yoshimura M, Kato A, Ogawa H, Kurihara H.
Circulation. 2005 Nov 1;112(18):2840-50.
PMID 16267257
 
Bone morphogenetic protein 2 transiently enhances expression of a gene, Id (inhibitor of differentiation), encoding a helix-loop-helix molecule in osteoblast-like cells.
Ogata T, Wozney JM, Benezra R, Noda M.
Proc Natl Acad Sci U S A. 1993 Oct 1;90(19):9219-22.
PMID 8415680
 
Slow-dividing satellite cells retain long-term self-renewal ability in adult muscle.
Ono Y, Masuda S, Nam HS, Benezra R, Miyagoe-Suzuki Y, Takeda S.
J Cell Sci. 2012 Mar 1;125(Pt 5):1309-17. Epub 2012 Feb 20.
PMID 22349695
 
Id-1 stimulates serum independent prostate cancer cell proliferation through inactivation of p16(INK4a)/pRB pathway.
Ouyang XS, Wang X, Ling MT, Wong HL, Tsao SW, Wong YC.
Carcinogenesis. 2002 May;23(5):721-5.
PMID 12016143
 
Reassessment of id1 protein expression in human mammary, prostate, and bladder cancers using a monospecific rabbit monoclonal anti-id1 antibody.
Perk J, Gil-Bazo I, Chin Y, de Candia P, Chen JJ, Zhao Y, Chao S, Cheong W, Ke Y, Al-Ahmadie H, Gerald WL, Brogi E, Benezra R.
Cancer Res. 2006 Nov 15;66(22):10870-7.
PMID 17108123
 
The loop region of the helix-loop-helix protein Id1 is critical for its dominant negative activity.
Pesce S, Benezra R.
Mol Cell Biol. 1993 Dec;13(12):7874-80.
PMID 8247002
 
ID1 facilitates the growth and metastasis of non-small cell lung cancer in response to nicotinic acetylcholine receptor and epidermal growth factor receptor signaling.
Pillai S, Rizwani W, Li X, Rawal B, Nair S, Schell MJ, Bepler G, Haura E, Coppola D, Chellappan S.
Mol Cell Biol. 2011 Jul;31(14):3052-67. Epub 2011 May 23.
PMID 21606196
 
The transcriptional repressor of p16/Ink4a, Id1, is up-regulated in early melanomas.
Polsky D, Young AZ, Busam KJ, Alani RM.
Cancer Res. 2001 Aug 15;61(16):6008-11.
PMID 11507043
 
Inhibitor of differentiation-1 as a novel prognostic factor in NSCLC patients with adenocarcinoma histology and its potential contribution to therapy resistance.
Ponz-Sarvise M, Nguewa PA, Pajares MJ, Agorreta J, Lozano MD, Redrado M, Pio R, Behrens C, Wistuba II, Garcia-Franco CE, Garcia-Foncillas J, Montuenga LM, Calvo A, Gil-Bazo I.
Clin Cancer Res. 2011 Jun 15;17(12):4155-66. Epub 2011 May 3.
PMID 21540238
 
Id1 maintains embryonic stem cell self-renewal by up-regulation of Nanog and repression of Brachyury expression.
Romero-Lanman EE, Pavlovic S, Amlani B, Chin Y, Benezra R.
Stem Cells Dev. 2012 Feb 10;21(3):384-93. Epub 2011 Dec 1.
PMID 22013995
 
The stem cell gene "inhibitor of differentiation 1" (ID1) is frequently expressed in non-small cell lung cancer.
Rothschild SI, Kappeler A, Ratschiller D, Betticher DC, Tschan MP, Gugger M, Gautschi O.
Lung Cancer. 2011 Mar;71(3):306-11. Epub 2010 Aug 14.
PMID 20709421
 
Id proteins in development, cell cycle and cancer.
Ruzinova MB, Benezra R.
Trends Cell Biol. 2003 Aug;13(8):410-8.
PMID 12888293
 
Crucial role of inhibitor of DNA binding/differentiation in the vascular endothelial growth factor-induced activation and angiogenic processes of human endothelial cells.
Sakurai D, Tsuchiya N, Yamaguchi A, Okaji Y, Tsuno NH, Kobata T, Takahashi K, Tokunaga K.
J Immunol. 2004 Nov 1;173(9):5801-9.
PMID 15494533
 
ID1 inhibits USF2 and blocks TGF-b-induced apoptosis in mesangial cells.
Sato AY, Antonioli E, Tambellini R, Campos AH.
Am J Physiol Renal Physiol. 2011 Dec;301(6):F1260-9. Epub 2011 Sep 14.
PMID 21921026
 
Overexpression of Id-1 is associated with poor clinical outcome in node negative breast cancer.
Schoppmann SF, Schindl M, Bayer G, Aumayr K, Dienes J, Horvat R, Rudas M, Gnant M, Jakesz R, Birner P.
Int J Cancer. 2003 May 10;104(6):677-82.
PMID 12640673
 
Strong expression of ID1 protein is associated with decreased survival, increased expression of ephrin-A1/EPHA2, and reduced thrombospondin-1 in malignant melanoma.
Straume O, Akslen LA.
Br J Cancer. 2005 Oct 17;93(8):933-8.
PMID 16189525
 
Cyclooxygenase-2-derived prostaglandin E2 stimulates Id-1 transcription.
Subbaramaiah K, Benezra R, Hudis C, Dannenberg AJ.
J Biol Chem. 2008 Dec 5;283(49):33955-68. Epub 2008 Oct 8.
PMID 18842581
 
Pre-TCR-triggered ERK signalling-dependent downregulation of E2A activity in Notch3-induced T-cell lymphoma.
Talora C, Campese AF, Bellavia D, Pascucci M, Checquolo S, Groppioni M, Frati L, von Boehmer H, Gulino A, Screpanti I.
EMBO Rep. 2003 Nov;4(11):1067-72. Epub 2003 Oct 17.
PMID 14566327
 
Cyclin D1, Id1 and EMT in breast cancer.
Tobin NP, Sims AH, Lundgren KL, Lehn S, Landberg G.
BMC Cancer. 2011 Sep 28;11:417.
PMID 21955753
 
Transcription of the dominant-negative helix-loop-helix protein Id1 is regulated by a protein complex containing the immediate-early response gene Egr-1.
Tournay O, Benezra R.
Mol Cell Biol. 1996 May;16(5):2418-30.
PMID 8628310
 
Targeting Id1 and Id3 inhibits peritoneal metastasis of gastric cancer.
Tsuchiya T, Okaji Y, Tsuno NH, Sakurai D, Tsuchiya N, Kawai K, Yazawa K, Asakage M, Yamada J, Yoneyama S, Kitayama J, Osada T, Watanabe T, Tokunaga K, Takahashi K, Nagawa H.
Cancer Sci. 2005 Nov;96(11):784-90.
PMID 16271072
 
Expression and prognostic values of Id-1 and Id-3 in gastric adenocarcinoma.
Yang HY, Liu HL, Liu GY, Zhu H, Meng QW, Qu LD, Liu LX, Jiang HC.
J Surg Res. 2011 May 15;167(2):258-66. Epub 2009 Sep 9.
PMID 20080245
 
Smad-dependent and smad-independent induction of id1 by prostacyclin analogues inhibits proliferation of pulmonary artery smooth muscle cells in vitro and in vivo.
Yang J, Li X, Al-Lamki RS, Southwood M, Zhao J, Lever AM, Grimminger F, Schermuly RT, Morrell NW.
Circ Res. 2010 Jul 23;107(2):252-62. Epub 2010 Jun 3.
PMID 20522807
 
Inhibitor of DNA binding-1 overexpression in prostate cancer: relevance to tumor differentiation.
Yu X, Xu X, Han B, Zhou R.
Pathol Oncol Res. 2009 Mar;15(1):91-6. Epub 2008 Aug 28.
PMID 18752043
 
Angiogenesis impairment in Id-deficient mice cooperates with an Hsp90 inhibitor to completely suppress HER2/neu-dependent breast tumors.
de Candia P, Solit DB, Giri D, Brogi E, Siegel PM, Olshen AB, Muller WJ, Rosen N, Benezra R.
Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12337-42. Epub 2003 Oct 2.
PMID 14526102
 

Citation

This paper should be referenced as such :
Castaòn, E ; Gil-Bazo, I
ID1 (inhibitor of DNA binding 1, dominant negative helix-loop-helix protein)
Atlas Genet Cytogenet Oncol Haematol. 2013;17(2):121-125.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ID1ID40914ch20q11.html

External links

Nomenclature
HGNC (Hugo)ID1   5360
Cards
AtlasID1ID40914ch20q11
Entrez_Gene (NCBI)ID1  3397  inhibitor of DNA binding 1, HLH protein
AliasesID; bHLHb24
GeneCards (Weizmann)ID1
Ensembl hg19 (Hinxton)ENSG00000125968 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125968 [Gene_View]  ENSG00000125968 [Sequence]  chr20:31605283-31606514 [Contig_View]  ID1 [Vega]
ICGC DataPortalENSG00000125968
TCGA cBioPortalID1
AceView (NCBI)ID1
Genatlas (Paris)ID1
WikiGenes3397
SOURCE (Princeton)ID1
Genetics Home Reference (NIH)ID1
Genomic and cartography
GoldenPath hg38 (UCSC)ID1  -     chr20:31605283-31606514 +  20q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ID1  -     20q11.21   [Description]    (hg19-Feb_2009)
EnsemblID1 - 20q11.21 [CytoView hg19]  ID1 - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBIID1 [Mapview hg19]  ID1 [Mapview hg38]
OMIM600349   
Gene and transcription
Genbank (Entrez)AI304595 AK291152 AK313786 BC000613 BC012420
RefSeq transcript (Entrez)NM_002165 NM_181353
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ID1
Cluster EST : UnigeneHs.504609 [ NCBI ]
CGAP (NCI)Hs.504609
Alternative Splicing GalleryENSG00000125968
Gene ExpressionID1 [ NCBI-GEO ]   ID1 [ EBI - ARRAY_EXPRESS ]   ID1 [ SEEK ]   ID1 [ MEM ]
Gene Expression Viewer (FireBrowse)ID1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3397
GTEX Portal (Tissue expression)ID1
Human Protein AtlasENSG00000125968-ID1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP41134   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP41134  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP41134
Splice isoforms : SwissVarP41134
PhosPhoSitePlusP41134
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    DNA-bd_prot-inh    HLH_DNA-bd_sf   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)ID1
DMDM Disease mutations3397
Blocks (Seattle)ID1
SuperfamilyP41134
Human Protein Atlas [tissue]ENSG00000125968-ID1 [tissue]
Peptide AtlasP41134
HPRD08980
IPIIPI00012718   IPI00218515   IPI00977390   
Protein Interaction databases
DIP (DOE-UCLA)P41134
IntAct (EBI)P41134
FunCoupENSG00000125968
BioGRIDID1
STRING (EMBL)ID1
ZODIACID1
Ontologies - Pathways
QuickGOP41134
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor binding  transcriptional repressor activity, RNA polymerase II transcription factor binding  angiogenesis  endothelial cell morphogenesis  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  Golgi apparatus  centrosome  transcription, DNA-templated  transforming growth factor beta receptor signaling pathway  brain development  heart development  circadian rhythm  circadian rhythm  protein C-terminus binding  transcription factor binding  transcription factor binding  negative regulation of transcription by transcription factor localization  positive regulation of gene expression  neuron differentiation  neuron differentiation  BMP signaling pathway  protein destabilization  positive regulation of actin filament bundle assembly  collagen metabolic process  cell-abiotic substrate adhesion  protein homodimerization activity  negative regulation of apoptotic process  negative regulation of DNA binding  regulation of MAPK cascade  negative regulation of DNA-binding transcription factor activity  blood vessel endothelial cell migration  protein self-association  negative regulation of endothelial cell differentiation  negative regulation of neuron differentiation  negative regulation of osteoblast differentiation  regulation of angiogenesis  negative regulation of transcription, DNA-templated  response to antibiotic  protein N-terminus binding  blood vessel morphogenesis  positive regulation of epithelial cell proliferation  negative regulation of dendrite morphogenesis  regulation of cell cycle  lung morphogenesis  lung vasculature development  proteasome binding  cellular response to epidermal growth factor stimulus  negative regulation of protein homodimerization activity  cellular response to peptide  negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding  cellular response to dopamine  cellular response to nerve growth factor stimulus  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor binding  transcriptional repressor activity, RNA polymerase II transcription factor binding  angiogenesis  endothelial cell morphogenesis  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  Golgi apparatus  centrosome  transcription, DNA-templated  transforming growth factor beta receptor signaling pathway  brain development  heart development  circadian rhythm  circadian rhythm  protein C-terminus binding  transcription factor binding  transcription factor binding  negative regulation of transcription by transcription factor localization  positive regulation of gene expression  neuron differentiation  neuron differentiation  BMP signaling pathway  protein destabilization  positive regulation of actin filament bundle assembly  collagen metabolic process  cell-abiotic substrate adhesion  protein homodimerization activity  negative regulation of apoptotic process  negative regulation of DNA binding  regulation of MAPK cascade  negative regulation of DNA-binding transcription factor activity  blood vessel endothelial cell migration  protein self-association  negative regulation of endothelial cell differentiation  negative regulation of neuron differentiation  negative regulation of osteoblast differentiation  regulation of angiogenesis  negative regulation of transcription, DNA-templated  response to antibiotic  protein N-terminus binding  blood vessel morphogenesis  positive regulation of epithelial cell proliferation  negative regulation of dendrite morphogenesis  regulation of cell cycle  lung morphogenesis  lung vasculature development  proteasome binding  cellular response to epidermal growth factor stimulus  negative regulation of protein homodimerization activity  cellular response to peptide  negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding  cellular response to dopamine  cellular response to nerve growth factor stimulus  
Pathways : KEGGRap1 signaling pathway    TGF-beta signaling pathway    Hippo signaling pathway   
REACTOMEP41134 [protein]
REACTOME PathwaysR-HSA-2559585 [pathway]   
NDEx NetworkID1
Atlas of Cancer Signalling NetworkID1
Wikipedia pathwaysID1
Orthology - Evolution
OrthoDB3397
GeneTree (enSembl)ENSG00000125968
Phylogenetic Trees/Animal Genes : TreeFamID1
HOVERGENP41134
HOGENOMP41134
Homologs : HomoloGeneID1
Homology/Alignments : Family Browser (UCSC)ID1
Gene fusions - Rearrangements
Fusion : QuiverID1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerID1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ID1
dbVarID1
ClinVarID1
1000_GenomesID1 
Exome Variant ServerID1
ExAC (Exome Aggregation Consortium)ENSG00000125968
GNOMAD BrowserENSG00000125968
Varsome BrowserID1
Genetic variants : HAPMAP3397
Genomic Variants (DGV)ID1 [DGVbeta]
DECIPHERID1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisID1 
Mutations
ICGC Data PortalID1 
TCGA Data PortalID1 
Broad Tumor PortalID1
OASIS PortalID1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICID1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDID1
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 ID1
DgiDB (Drug Gene Interaction Database)ID1
DoCM (Curated mutations)ID1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ID1 (select a term)
intoGenID1
NCG5 (London)ID1
Cancer3DID1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600349   
Orphanet
DisGeNETID1
MedgenID1
Genetic Testing Registry ID1
NextProtP41134 [Medical]
TSGene3397
GENETestsID1
Target ValidationID1
Huge Navigator ID1 [HugePedia]
snp3D : Map Gene to Disease3397
BioCentury BCIQID1
ClinGenID1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3397
Chemical/Pharm GKB GenePA29608
Clinical trialID1
Miscellaneous
canSAR (ICR)ID1 (select the gene name)
Probes
Litterature
PubMed257 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineID1
EVEXID1
GoPubMedID1
iHOPID1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Aug 16 11:55:45 CEST 2018
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