EPCAM
entrez
4072
canonical
uniprot
P16422
canonical
ensembl
ENSG00000119888
resolver
ensp
ENSP00000263735
resolver
enst
ENST00000263735
resolver
genesymbol
EPCAM
resolver
genesymbol_syn
GA733-2
resolver
genesymbol_syn
M1S2
resolver
genesymbol_syn
M4S1
resolver
genesymbol_syn
MIC18
resolver
genesymbol_syn
TACSTD1
resolver
genesymbol_syn
TROP1
resolver
hgnc
HGNC:11529
resolver
uniprot
P18180
resolver
uniprot
Q6FG26
resolver
uniprot
Q6FG49
resolver
uniprot
Q96C47
resolver
uniprot
Q9UCD0
resolver
uniprot_entry
EPCAM_HUMAN
resolver
uniprot_sec
P18180
resolver
uniprot_sec
Q6FG26
resolver
uniprot_sec
Q6FG49
resolver
uniprot_sec
Q96C47
resolver
uniprot_sec
Q9UCD0
resolver
amino_acid_sequence
MAPPQVLAFGLLLAAATATFAAAQEECVCENYKLAVNCFVNNNRQCQCTSVGAQNTVICSKLAAKCLVMKAEMNGSKLGRRAKPEGALQNNDGLYDPDCDESGLFKAKQCNGTSMCWCVNTAGVRRTDKDTEITCSERVRTYWIIIELKHKAREKPYDSKSLRTALQKEITTRYQLDPKFITSILYENNVITIDLVQNSSQKTQNDVDIADVAYYFEKDVKGESLFHSKKMDLTVNGEQLDLDPGQTLIYYVDEKAPEFSMQGLKAGVIAVIVVVVIAVVAGIVVLVISRKKRMAKYEKAEIKEMGEMHRELNA
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:18572020, ECO:0000269|PubMed:24142340}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Lynch syndrome 8 (LYNCH8) [MIM:613244]: A form of Lynch syndrome, 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. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it 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 Lynch syndrome 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 Lynch syndrome' or 'incomplete Lynch syndrome' 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:0000269|PubMed:19098912}. Note=The disease is caused by variants affecting the gene represented in this entry. LYNCH8 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
proteins
function
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:0000269|PubMed:15195135, ECO:0000269|PubMed:15922867, ECO:0000269|PubMed:19785009, ECO:0000269|PubMed:20064925}.
uniprot
proteins
mass_dalton
34932
uniprot
proteins
mutagenesis
MUTAGEN 74; /note="N->A: Changed glycosylation pattern. Complete loss of glycosylation and substantial decrease in protein expression; when associated with A-111 and A-198."; /evidence="ECO:0000269|PubMed:18508581"; MUTAGEN 111; /note="N->A: Changed glycosylation pattern. Complete loss of glycosylation and substantial decrease in protein expression; when associated with A-74 and A-198."; /evidence="ECO:0000269|PubMed:18508581"; MUTAGEN 198; /note="N->A: Decreased glycosylation, reduced protein stability and significant decrease in protein expression. Complete loss of glycosylation and substantial decrease in protein expression; when associated with A-74 and A-111."; /evidence="ECO:0000269|PubMed:18508581
uniprot
proteins
post_translational_modification
PTM: Hyperglycosylated in carcinoma tissue as compared with autologous normal epithelia. Glycosylation at Asn-198 is crucial for protein stability. {ECO:0000269|PubMed:11080501, ECO:0000269|PubMed:18508581, ECO:0000269|PubMed:19159218}.
uniprot
proteins
protein_family
EPCAM family
uniprot
proteins
pubmed
11080501
uniprot
proteins
pubmed
15195135
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15922867
uniprot
proteins
pubmed
16054130
uniprot
proteins
pubmed
18508581
uniprot
proteins
pubmed
18572020
uniprot
proteins
pubmed
19098912
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19785009
uniprot
proteins
pubmed
20064925
uniprot
proteins
pubmed
2108441
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2333300
uniprot
proteins
pubmed
24142340
uniprot
proteins
pubmed
2463074
uniprot
proteins
pubmed
2469722
uniprot
proteins
pubmed
2911574
uniprot
proteins
pubmed
7693697
uniprot
proteins
pubmed
8382772
uniprot
proteins
sequence_length
314
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lateral cell membrane {ECO:0000269|PubMed:15195135, ECO:0000269|PubMed:16054130, ECO:0000269|PubMed:19785009}; Single-pass type I membrane protein {ECO:0000269|PubMed:16054130}. Cell junction, tight junction {ECO:0000269|PubMed:16054130}. Note=Colocalizes with CLDN7 at the lateral cell membrane and tight junction. {ECO:0000269|PubMed:16054130}.
uniprot
proteins
transmembrane_region
TRANSMEM 266..288; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins