EPCAM_HUMAN » Epithelial cell adhesion molecule

EPCAM_HUMAN » Epithelial cell adhesion molecule
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
EPCAM_HUMAN » Epithelial cell adhesion molecule » Ep-CAM; Tumor-associated calcium signal transducer 1;Major gastrointestinal tumor-associated protein GA733-2;Epithelial cell surface antigen;Epithelial glycoprotein;EGP; Epithelial glycoprotein 314;EGP314; hEGP314; Adenocarcinoma-associated antigen;KSA;KS
Hydrophobic Thickness 34.4 ± 5.2 Å
Tilt Angle 43 ± 8°
ΔGtransfer -30.5 kcal/mol
ΔGfold -27.2 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 263-292 (261-295)
Pathways none
PDB 4mzv (A=24-265)
OPM none
Complexes none
Interactions

LAIR1, Complex: LAIR1:EPCAM, PubMed

Domains

AA: 59-135, PDBID: 4MZV, Subunit A, Seq Identity:100%, Thyroglobulin type-1 repeat

UniProt annotation for EPCAM_HUMAN » Epithelial cell adhesion molecule
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.

SUBUNIT: Monomer. Interacts with phosphorylated CLDN7.

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.

DISEASE: Diarrhea 5, with tufting enteropathy, congenital (DIAR5) OMIM: 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. disease is caused by mutations affecting the gene represented in this entry.

DISEASE: Hereditary non-polyposis colorectal cancer 8 (HNPCC8) OMIM: 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. 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.

UniProt features for EPCAM_HUMAN » Epithelial cell adhesion molecule
SIGNAL 1 23 Potential.
CHAIN 24 314 Epithelial cell adhesion molecule.
DOMAIN 63 135 Thyroglobulin type-1.
DISULFID 27 46
DISULFID 29 59
DISULFID 38 48
DISULFID 66 99
DISULFID 110 116
DISULFID 118 135
Amino Acid Sequence for EPCAM_HUMAN » Epithelial cell adhesion molecule
MAPPQVLAFG LLLAAATATF AAAQEECVCE NYKLAVNCFV NNNRQCQCTS VGAQNTVICS KLAAKCLVMK AEMNGSKLGR RAKPEGALQN NDGLYDPDCD ESGLFKAKQC NGTSMCWCVN TAGVRRTDKD TEITCSERVR TYWIIIELKH KAREKPYDSK SLRTALQKEI TTRYQLDPKF ITSILYENNV ITIDLVQNSS QKTQNDVDIA DVAYYFEKDV KGESLFHSKK MDLTVNGEQL DLDPGQTLIY YVDEKAPEFS MQGLKAGVIA VIVVVVIAVV AGIVVLVISR KKRMAKYEKA EIKEMGEMHR ELNA