InnateDB Protein
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IDBP-50833.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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EPCAM
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Protein Name
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epithelial cell adhesion molecule
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Synonyms
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DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8; KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000263735
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InnateDB Gene
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IDBG-50831 (EPCAM)
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Protein Structure
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Function |
May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E. {ECO:0000269PubMed:15195135, ECO:0000269PubMed:15922867, ECO:0000269PubMed:19785009, ECO:0000269PubMed:20064925}.
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Subcellular Localization |
Lateral cell membrane; Single-pass type I membrane protein. Cell junction, tight junction. Note=Colocalizes with CLDN7 at the lateral cell membrane and tight junction.
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Disease Associations |
Diarrhea 5, with tufting enteropathy, congenital (DIAR5) [MIM:613217]: An intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. {ECO:0000269PubMed:18572020}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hereditary non-polyposis colorectal cancer 8 (HNPCC8) [MIM:613244]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. {ECO:0000269PubMed:19098912}. Note=The disease is caused by mutations affecting the gene represented in this entry. HNPCC8 results from heterozygous deletion of 3-prime exons of EPCAM and intergenic regions directly upstream of MSH2, resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM.
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Tissue Specificity |
Highly and selectively expressed by undifferentiated rather than differentiated embryonic stem cells (ESC). Levels rapidly diminish as soon as ESC's differentiate (at protein levels). Expressed in almost all epithelial cell membranes but not on mesodermal or neural cell membranes. Found on the surface of adenocarcinoma. {ECO:0000269PubMed:20064925}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
GO:0001657
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ureteric bud development
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GO:0008284
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positive regulation of cell proliferation
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GO:0023019
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signal transduction involved in regulation of gene expression
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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GO:0048863
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stem cell differentiation
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GO:2000048
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negative regulation of cell-cell adhesion mediated by cadherin
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GO:2000648
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positive regulation of stem cell proliferation
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Cellular Component |
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PDB ID |
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InterPro |
IPR000716
Thyroglobulin type-1
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PFAM |
PF00086
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PRINTS |
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PIRSF |
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SMART |
SM00211
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TIGRFAMs |
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Modification |
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SwissProt |
P16422
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PhosphoSite |
PhosphoSite-P16422
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
4072
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UniGene |
Hs.713827
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RefSeq |
NP_002345
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HUGO |
HGNC:11529
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OMIM |
185535
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CCDS |
CCDS1833
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HPRD |
01709
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IMGT |
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EMBL |
AC079775
BC014785
CH471053
CR542259
CR542283
M26481
M32306
M32325
M33011
M93029
M93030
M93031
M93032
M93033
M93034
M93035
M93036
X14758
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GenPept |
AAA35723
AAA35861
AAA36151
AAA59543
AAB00775
AAH14785
AAY15095
CAA32870
CAG47055
CAG47078
EAX00218
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