Atlas of Genetics and Cytogenetics in Oncology and Haematology

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

Written2011-08Ming-Chung Jiang
Division of Hematology, Oncology, Department of Internal Medicine, Taipei Medical University Hospital, Taipei, Taiwan

(Note : for Links provided by Atlas : click)


HGNC Alias symbCAS
HGNC Alias namecellular apoptosis susceptibility
HGNC Previous namechromosome segregation 1 (yeast homolog)-like
 CSE1 chromosome segregation 1-like (yeast)
 CSE1 chromosome segregation 1 like
LocusID (NCBI) 1434
Atlas_Id 40159
Location 20q13.13  [Link to chromosome band 20q13]
Location_base_pair Starts at 49046312 and ends at 49096949 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping CSE1L.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)
AGR2 (7p21.1)::CSE1L (20q13.13)CSE1L (20q13.13)::ARFGEF2 (20q13.13)CSE1L (20q13.13)::CSE1L (20q13.13)
KDM4A (1p34.1)::CSE1L (20q13.13)UGP2 (2p15)::CSE1L (20q13.13)


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).


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).


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
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
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
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
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
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
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
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
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
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
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
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
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
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
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


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 journal version : [ pdf ]   [ DOI ]

External links

HGNC (Hugo)CSE1L   2431
Entrez_Gene (NCBI)CSE1L    chromosome segregation 1 like
AliasesCAS; CSE1; XPO2
GeneCards (Weizmann)CSE1L
Ensembl hg19 (Hinxton)ENSG00000124207 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124207 [Gene_View]  ENSG00000124207 [Sequence]  chr20:49046312-49096949 [Contig_View]  CSE1L [Vega]
ICGC DataPortalENSG00000124207
TCGA cBioPortalCSE1L
Genatlas (Paris)CSE1L
SOURCE (Princeton)CSE1L
Genetics Home Reference (NIH)CSE1L
Genomic and cartography
GoldenPath hg38 (UCSC)CSE1L  -     chr20:49046312-49096949 +  20q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CSE1L  -     20q13.13   [Description]    (hg19-Feb_2009)
GoldenPathCSE1L - 20q13.13 [CytoView hg19]  CSE1L - 20q13.13 [CytoView hg38]
Genome Data Viewer NCBICSE1L [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AF053640 AF053641 AF053642 AI018123 AI973168
RefSeq transcript (Entrez)NM_001256135 NM_001316 NM_001362762 NM_177436
Consensus coding sequences : CCDS (NCBI)CSE1L
Gene ExpressionCSE1L [ NCBI-GEO ]   CSE1L [ EBI - ARRAY_EXPRESS ]   CSE1L [ SEEK ]   CSE1L [ MEM ]
Gene Expression Viewer (FireBrowse)CSE1L [ Firebrowse - Broad ]
GenevisibleExpression of CSE1L in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1434
GTEX Portal (Tissue expression)CSE1L
Human Protein AtlasENSG00000124207-CSE1L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CSE1L
Human Protein Atlas [tissue]ENSG00000124207-CSE1L [tissue]
Protein Interaction databases
Ontologies - Pathways
PubMed177 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:15:29 CEST 2021

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