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CSE1L (CSE1 chromosome segregation 1-like (yeast))

Identity

Other namesCAS
CSE1
MGC117283
MGC130036
MGC130037
XPO2
HGNC (Hugo) CSE1L
LocusID (NCBI) 1434
Location 20q13.13
Location_base_pair Starts at 47662783 and ends at 47713497 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Note CDS: 2915 bp.
Description The CSE1L gene consists of 25 exons (Brinkmann et al., 1999). The CSE1L gene is high-frequency amplified in various cancer types (Tai et al., 2010a).
Transcription Multiple transcript variants encoding several different isoforms in a tissue-specific manner have been described for CSE1L gene (Brinkmann et al., 1999).

Protein

Note CSE1L is a multiple function protein. The protein is involved in nuclear protein transport (Lindsay et al., 2002), cell apoptosis (Brinkmann et al., 1996), microtubule assembly (Scherf et al., 1996), cell secretion (Tsao et al., 2009), and cancer cell invasion (Liao et al., 2008; Tung et al., 2009; Stella Tsai et al., 2010) etc.
Description CSE1L gene encodes a 971-amino acid protein with an approximately 100-kDa molecular mass (Brinkmann et al., 1995).
Expression CSE1L is expressed in various tissues, and particularly it is highly expressed in most cancer (Tai et al., 2010a; Brinkmann et al., 1995). The expression level CSE1L is positively correlated with high tumor stage, high tumor grade, and worse outcomes of cancer patients (Tai et al., 2010a). The increased expression of CSE1L in cancer is mainly due to the amplification of the copy number of the CSE1L gene in cancer tissue (Tai et al., 2010a). The association of CSE1L with microtubules is related with pseudopodia extension and the migration of cancer cells (Tai et al., 2010b). CSE1L is also a secretory protein, and it is present is the sera of cancer patients. The secretion of CSE1L is related with the invasion of cancer cells (Tung et al., 2009; Stella Tsai et al., 2010).
Localisation Nucleus, cytoplasm.
Function A cell apoptosis susceptibility protein; a microtubule-associated protein; an export receptor of importin-a in the nuclear protein import cycle; involved in tumor cell invasion and metastasis in cancer progression.
Homology The yeast chromosome segregation gene CSE1.

Implicated in

Entity Breast cancer
Prognosis Benign breast lesions show weak cytoplasmatic CSE1L staining, while in ductal and lobular in situ carcinomas, 70%-90% of breast tumor cells showed heavy CSE1L staining cytoplasm. Also, in invasive ductal and lobular carcinomas, 70-90% of the tumor cells showed heavy CSE1L staining pattern predominantly in nuclei (Behrens et al., 2001).
  
Entity Ovarian carcinoma
Prognosis In serous ovarian carcinoma, moderate to strong immunostaining of CSE1L was observed in 34 of 41 cases (83%) of serous carcinomas, and CSE1L immunoreactivity was positively related to the frequency of apoptotic bodies (p = 0.0170), the tumor grade (p = 0.0107), and adverse outcomes (p = 0.0035). CSE1L protein reactivity was present in 100% of 69 ovarian carcinomas, and a significant reciprocal correlation was observed between high levels of CSE1L and the histological type, FIGO (International Federation of Obstetrics and Gynecology) stage III and grade 3, residual tumors of > 2 cm, and 20q13.2 (ZNF217 gene) amplification (> four copies in > 20% cells). A tissue array study composed of 244 serous ovarian tumors of different grades (0-3) and stages (I-IV) showed a higher expression of CSE1L in poorly compared to highly differentiated invasive ovarian tumors (Brustmann, 2004; Peiro et al., 2002; Ouellet et al., 2006).
  
Entity Melanomas
Prognosis Analysis of the expression of CSE1L in 27 control benign and 55 malignant melanocytic lesions (including 32 primary and 23 metastatic lesions), and the results showed that only 13 of the 27 benign melanocytic lesions stained positive for CSE1L. However, 5 of 7 lentigo maligna melanomas, 11 of 12 superficial spreading melanomas, and all acrolentiginous (n = 7) and nodular (n = 6) melanomas showed medium to high intensity immunoreactivity for CSE1L staining. All metastatic melanomas (n = 23) showed strong CSE1L staining. Also, CSE1L detection in clinical stages according to the International Union Against Cancer (UICC) showed an increase from 43% ± 34% CSEL-positive cells in stage I, to 53% ± 26% in stage II, 68% ± 24% in stage III, and 72% ± 24% in stage IV (Böni et al., 1999).
  
Entity Lymphomas
Prognosis In normal lymphoid tissue and malignant lymphomas, low-grade non-Hodgkin's lymphoma revealed weak CSE1L staining, with 10% to 60% of all cells positive. In contrast, highly malignant non-Hodgkin's lymphoma and malignant cells of Hodgkin's disease displayed very strong CSE1L positivity, with staining of up to 80% of atypical cells (Wellmann et al., 1997).
  
Entity Endometrial carcinomas
Prognosis An analysis of 89 endometrial carcinomas and 56 samples of non-neoplastic adjacent endometrium showed that CSE1L was expressed in 93% of endometrial carcinomas neoplastic tissues, while lower levels of CSE1L expression were observed in the adjacent endometrium compared to the carcinomas (p = 0.003). Also, CSE1L expression was higher in grade 3 tumors (p = 0.002) (Peiró et al., 2001).
  
Entity Hepatocellular carcinomas
Prognosis The expression of CSE1L was not detected in normal hepatocytes, while strong CSE1L expression was detected in hepatocellular carcinoma. Study also showed that the immunohistochemical staining intensity score of CSE1L was significantly higher in human hepatocellular carcinoma than in non-tumor tissue (p < 0.05) (Wellmann et al., 2001; Shiraki et al., 2006).
  
Entity Lung cancer
Prognosis The immunophenotypic profiling of non-small cell lung cancer progression using tissue microarray with 59 tissue samples, including 33 primary tumors without distant metastasis and 26 non-small cell lung cancer with brain metastases and showed that elevated expression of CSE1L was significantly associated with the metastatic potential of non-small cell lung cancer (Papay et al., 2007).
  
Entity Gliomas
Prognosis The results of array-based comparative genomic hybridization showed that 57.1% of the glioblastoma multiforme cases had high-frequency amplification of the CSE1L gene. Idbaih et al. investigated a series of 16 low-grade gliomas and their subsequent progression to higher-grade malignancies using a one-megabase bacterial artificial chromosome (BAC)-based array comparative genomic hybridization technique, and reported that the CSE1L gene was associated with the progression of gliomas (Hui et al., 2001; Idbaih et al., 2008).
  
Entity Colorectal carcinoma
Prognosis The expression of CSE1L was also reported to be higher in the primary and metastatic human colorectal carcinoma compared to the normal colon mucosa (p < 0.0001). Also, the concentration of CSE1L in serum is positively correlated with the stage of colorectal cancer (Stella Tsai et al., 2010; Seiden-Long et al., 2006).
  

External links

Nomenclature
HGNC (Hugo)CSE1L   2431
Cards
AtlasCSE1LID40159ch20q13
Entrez_Gene (NCBI)CSE1L  1434  CSE1 chromosome segregation 1-like (yeast)
GeneCards (Weizmann)CSE1L
Ensembl (Hinxton)ENSG00000124207 [Gene_View]  chr20:47662783-47713497 [Contig_View]  CSE1L [Vega]
ICGC DataPortalENSG00000124207
cBioPortalCSE1L
AceView (NCBI)CSE1L
Genatlas (Paris)CSE1L
WikiGenes1434
SOURCE (Princeton)NM_001256135 NM_001316 NM_177436
Genomic and cartography
GoldenPath (UCSC)CSE1L  -  20q13.13   chr20:47662783-47713497 +  20q13   [Description]    (hg19-Feb_2009)
EnsemblCSE1L - 20q13 [CytoView]
Mapping of homologs : NCBICSE1L [Mapview]
OMIM601342   
Gene and transcription
Genbank (Entrez)AF053640 AF053641 AF053642 AI018123 AI973168
RefSeq transcript (Entrez)NM_001256135 NM_001316 NM_177436
RefSeq genomic (Entrez)AC_000152 NC_000020 NC_018931 NT_011362 NW_001838666 NW_004929418
Consensus coding sequences : CCDS (NCBI)CSE1L
Cluster EST : UnigeneHs.90073 [ NCBI ]
CGAP (NCI)Hs.90073
Alternative Splicing : Fast-db (Paris)GSHG0018819
Alternative Splicing GalleryENSG00000124207
Gene ExpressionCSE1L [ NCBI-GEO ]     CSE1L [ SEEK ]   CSE1L [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55060 (Uniprot)
NextProtP55060  [Medical]
With graphics : InterProP55060
Splice isoforms : SwissVarP55060 (Swissvar)
Domaine pattern : Prosite (Expaxy)IMPORTIN_B_NT (PS50166)   
Domains : Interpro (EBI)ARM-like [organisation]   ARM-type_fold [organisation]   CAS_CSE1_C [organisation]   Cse1 [organisation]   Importin-beta_N [organisation]  
Related proteins : CluSTrP55060
Domain families : Pfam (Sanger)CAS_CSE1 (PF03378)    Cse1 (PF08506)    IBN_N (PF03810)   
Domain families : Pfam (NCBI)pfam03378    pfam08506    pfam03810   
Domain families : Smart (EMBL)IBN_N (SM00913)  
DMDM Disease mutations1434
Blocks (Seattle)P55060
Human Protein AtlasENSG00000124207 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP55060
HPRD03217
IPIIPI00022744   IPI00219994   IPI00910737   IPI00910298   IPI01016026   IPI00219762   
Protein Interaction databases
DIP (DOE-UCLA)P55060
IntAct (EBI)P55060
FunCoupENSG00000124207
BioGRIDCSE1L
InParanoidP55060
Interologous Interaction database P55060
IntegromeDBCSE1L
STRING (EMBL)CSE1L
Ontologies - Pathways
Ontology : AmiGOprotein binding  nucleus  nucleolus  cytoplasm  protein export from nucleus  apoptotic process  importin-alpha export receptor activity  cell proliferation  Ran GTPase binding  membrane  extracellular vesicular exosome  
Ontology : EGO-EBIprotein binding  nucleus  nucleolus  cytoplasm  protein export from nucleus  apoptotic process  importin-alpha export receptor activity  cell proliferation  Ran GTPase binding  membrane  extracellular vesicular exosome  
Protein Interaction DatabaseCSE1L
Wikipedia pathwaysCSE1L
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CSE1L
snp3D : Map Gene to Disease1434
SNP (GeneSNP Utah)CSE1L
SNP : HGBaseCSE1L
Genetic variants : HAPMAPCSE1L
Exome VariantCSE1L
1000_GenomesCSE1L 
ICGC programENSG00000124207 
Somatic Mutations in Cancer : COSMICCSE1L 
CONAN: Copy Number AnalysisCSE1L 
Mutations and Diseases : HGMDCSE1L
Mutations and Diseases : intOGenCSE1L
Genomic VariantsCSE1L  CSE1L [DGVbeta]
dbVarCSE1L
ClinVarCSE1L
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM601342   
MedgenCSE1L
GENETestsCSE1L
Disease Genetic AssociationCSE1L
Huge Navigator CSE1L [HugePedia]  CSE1L [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCSE1L
Homology/Alignments : Family Browser (UCSC)CSE1L
Phylogenetic Trees/Animal Genes : TreeFamCSE1L
Chemical/Protein Interactions : CTD1434
Chemical/Pharm GKB GenePA26933
Clinical trialCSE1L
Cancer Resource (Charite)ENSG00000124207
Other databases
Probes
Litterature
PubMed85 Pubmed reference(s) in Entrez
CoreMineCSE1L
iHOPCSE1L
OncoSearchCSE1L

Bibliography

Cloning and characterization of a cellular apoptosis susceptibility gene, the human homologue to the yeast chromosome segregation gene CSE1.
Brinkmann U, Brinkmann E, Gallo M, Pastan I.
Proc Natl Acad Sci U S A. 1995 Oct 24;92(22):10427-31.
PMID 7479798
 
Role of CAS, a human homologue to the yeast chromosome segregation gene CSE1, in toxin and tumor necrosis factor mediated apoptosis.
Brinkmann U, Brinkmann E, Gallo M, Scherf U, Pastan I.
Biochemistry. 1996 May 28;35(21):6891-9.
PMID 8639641
 
The human CAS protein which is homologous to the CSE1 yeast chromosome segregation gene product is associated with microtubules and mitotic spindle.
Scherf U, Pastan I, Willingham MC, Brinkmann U.
Proc Natl Acad Sci U S A. 1996 Apr 2;93(7):2670-4.
PMID 8610099
 
Localization of the cell proliferation and apoptosis-associated CAS protein in lymphoid neoplasms.
Wellmann A, Krenacs L, Fest T, Scherf U, Pastan I, Raffeld M, Brinkmann U.
Am J Pathol. 1997 Jan;150(1):25-30.
PMID 9006318
 
Expression of the proliferation and apoptosis-associated CAS protein in benign and malignant cutaneous melanocytic lesions.
Boni R, Wellmann A, Man YG, Hofbauer G, Brinkmann U.
Am J Dermatopathol. 1999 Apr;21(2):125-8.
PMID 10218671
 
Tissue-specific alternative splicing of the CSE1L/CAS (cellular apoptosis susceptibility) gene.
Brinkmann U, Brinkmann E, Bera TK, Wellmann A, Pastan I.
Genomics. 1999 May 15;58(1):41-9.
PMID 10331944
 
Implication of the proliferation and apoptosis associated CSE1L/CAS gene for breast cancer development.
Behrens P, Brinkmann U, Fogt F, Wernert N, Wellmann A.
Anticancer Res. 2001 Jul-Aug;21(4A):2413-7.
PMID 11724300
 
Detection of multiple gene amplifications in glioblastoma multiforme using array-based comparative genomic hybridization.
Hui AB, Lo KW, Yin XL, Poon WS, Ng HK.
Lab Invest. 2001 May;81(5):717-23.
PMID 11351043
 
Cellular apoptosis susceptibility gene expression in endometrial carcinoma: correlation with Bcl-2, Bax, and caspase-3 expression and outcome.
Peiro G, Diebold J, Baretton GB, Kimmig R, Lohrs U.
Int J Gynecol Pathol. 2001 Oct;20(4):359-67.
PMID 11603220
 
High expression of the proliferation and apoptosis associated CSE1L/CAS gene in hepatitis and liver neoplasms: correlation with tumor progression.
Wellmann A, Flemming P, Behrens P, Wuppermann K, Lang H, Oldhafer K, Pastan I, Brinkmann U.
Int J Mol Med. 2001 May;7(5):489-94.
PMID 11295109
 
Npap60/Nup50 is a tri-stable switch that stimulates importin-alpha:beta-mediated nuclear protein import.
Lindsay ME, Plafker K, Smith AE, Clurman BE, Macara IG.
Cell. 2002 Aug 9;110(3):349-60.
PMID 12176322
 
CAS (cellular apoptosis susceptibility) gene expression in ovarian carcinoma: Correlation with 20q13.2 copy number and cyclin D1, p53, and Rb protein expression.
Peiro G, Diebold J, Lohrs U.
Am J Clin Pathol. 2002 Dec;118(6):922-9.
PMID 12472286
 
Expression of cellular apoptosis susceptibility protein in serous ovarian carcinoma: a clinicopathologic and immunohistochemical study.
Brustmann H.
Gynecol Oncol. 2004 Jan;92(1):268-76.
PMID 14751170
 
Tissue array analysis of expression microarray candidates identifies markers associated with tumor grade and outcome in serous epithelial ovarian cancer.
Ouellet V, Guyot MC, Le Page C, Filali-Mouhim A, Lussier C, Tonin PN, Provencher DM, Mes-Masson AM.
Int J Cancer. 2006 Aug 1;119(3):599-607.
PMID 16572426
 
Transcriptional targets of hepatocyte growth factor signaling and Ki-ras oncogene activation in colorectal cancer.
Seiden-Long IM, Brown KR, Shih W, Wigle DA, Radulovich N, Jurisica I, Tsao MS.
Oncogene. 2006 Jan 5;25(1):91-102.
PMID 16158056
 
Cellular apoptosis susceptibility protein and proliferation in human hepatocellular carcinoma.
Shiraki K, Fujikawa K, Sugimoto K, Ito T, Yamanaka T, Suzuki M, Yoneda K, Sugimoto K, Takase K, Nakano T.
Int J Mol Med. 2006 Jul;18(1):77-81.
PMID 16786158
 
Immunophenotypic profiling of nonsmall cell lung cancer progression using the tissue microarray approach.
Papay J, Krenacs T, Moldvay J, Stelkovics E, Furak J, Molnar B, Kopper L.
Appl Immunohistochem Mol Morphol. 2007 Mar;15(1):19-30.
PMID 17536303
 
Genomic changes in progression of low-grade gliomas.
Idbaih A, Carvalho Silva R, Criniere E, Marie Y, Carpentier C, Boisselier B, Taillibert S, Rousseau A, Mokhtari K, Ducray F, Thillet J, Sanson M, Hoang-Xuan K, Delattre JY.
J Neurooncol. 2008 Nov;90(2):133-40. Epub 2008 Jul 11.
PMID 18618226
 
CSE1L/CAS, the cellular apoptosis susceptibility protein, enhances invasion and metastasis but not proliferation of cancer cells.
Liao CF, Luo SF, Li LT, Lin CY, Chen YC, Jiang MC.
J Exp Clin Cancer Res. 2008 Jul 3;27:15.
PMID 18597698
 
Higher prevalence of secretory CSE1L/CAS in sera of patients with metastatic cancer.
Tung MC, Tsai CS, Tung JN, Tsao TY, Chen HC, Yeh KT, Liao CF, Jiang MC.
Cancer Epidemiol Biomarkers Prev. 2009 May;18(5):1570-7. Epub 2009 Apr 21.
PMID 19383891
 
Function of CSE1L/CAS in the secretion of HT-29 human colorectal cells and its expression in human colon.
Tsao TY, Tsai CS, Tung JN, Chen SL, Yue CH, Liao CF, Wang CC, Jiang MC.
Mol Cell Biochem. 2009 Jul;327(1-2):163-70. Epub 2009 Feb 18.
PMID 19224336
 
Serum cellular apoptosis susceptibility protein is a potential prognostic marker for metastatic colorectal cancer.
Stella Tsai CS, Chen HC, Tung JN, Tsou SS, Tsao TY, Liao CF, Chen YC, Yeh CY, Yeh KT, Jiang MC.
Am J Pathol. 2010 Apr;176(4):1619-28. Epub 2010 Feb 11.
PMID 20150437
 
Cellular apoptosis susceptibility (CSE1L/CAS) protein in cancer metastasis and chemotherapeutic drug-induced apoptosis.
Tai CJ, Hsu CH, Shen SC, Lee WR, Jiang MC.
J Exp Clin Cancer Res. 2010a Aug 11;29:110. (REVIEW)
PMID 20701792
 
Increased cellular apoptosis susceptibility (CSE1L/CAS) protein expression promotes protrusion extension and enhances migration of MCF-7 breast cancer cells.
Tai CJ, Shen SC, Lee WR, Liao CF, Deng WP, Chiou HY, Hsieh CI, Tung JN, Chen CS, Chiou JF, Li LT, Lin CY, Hsu CH, Jiang MC.
Exp Cell Res. 2010b Oct 15;316(17):2969-81. Epub 2010 Aug 3.
PMID 20688056
 
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Contributor(s)

Written08-2011Ming-Chung Jiang
Division of Hematology and Oncology, Department of Internal Medicine, Taipei Medical University Hospital, Taipei, Taiwan

Citation

This paper should be referenced as such :
Jiang, MC
CSE1L (CSE1 chromosome segregation 1-like (yeast))
Atlas Genet Cytogenet Oncol Haematol. 2012;16(1):41-43.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/CSE1LID40159ch20q13.html

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indexed on : Tue Sep 23 18:52:03 CEST 2014

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