InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EPCAM

Summary

InnateDB Protein

IDBP-50833.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EPCAM

Protein Name

epithelial cell adhesion molecule

Synonyms

DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8; KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000263735

InnateDB Gene

IDBG-50831 (EPCAM)

Protein Structure

UniProt Annotation

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}.

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.

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.

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}.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0032403	protein complex binding

Biological Process

GO:0001657	ureteric bud development
GO:0008284	positive regulation of cell proliferation
GO:0023019	signal transduction involved in regulation of gene expression
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048863	stem cell differentiation
GO:2000048	negative regulation of cell-cell adhesion mediated by cadherin
GO:2000648	positive regulation of stem cell proliferation

Cellular Component

GO:0005886	plasma membrane
GO:0005923	tight junction
GO:0009986	cell surface
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0016324	apical plasma membrane
GO:0016328	lateral plasma membrane
GO:0070062	extracellular vesicular exosome