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Protein

Epithelial cell adhesion molecule

Gene

EPCAM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.4 Publications

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: GO_Central
  • protein-containing complex binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionTumor antigen

Enzyme and pathway databases

ReactomeiR-HSA-202733 Cell surface interactions at the vascular wall
SIGNORiP16422

Names & Taxonomyi

Protein namesi
Recommended name:
Epithelial cell adhesion molecule
Short name:
Ep-CAM
Alternative name(s):
Adenocarcinoma-associated antigen
Cell surface glycoprotein Trop-1
Epithelial cell surface antigen
Epithelial glycoprotein
Short name:
EGP
Epithelial glycoprotein 314
Short name:
EGP314
Short name:
hEGP314
KS 1/4 antigen
KSA
Major gastrointestinal tumor-associated protein GA733-2
Tumor-associated calcium signal transducer 1
CD_antigen: CD326
Gene namesi
Name:EPCAM
Synonyms:GA733-2, M1S2, M4S1, MIC18, TACSTD1, TROP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000119888.10
HGNCiHGNC:11529 EPCAM
MIMi185535 gene
neXtProtiNX_P16422

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini24 – 265ExtracellularSequence analysisAdd BLAST242
Transmembranei266 – 288HelicalSequence analysisAdd BLAST23
Topological domaini289 – 314CytoplasmicSequence analysisAdd BLAST26

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Involvement in diseasei

Diarrhea 5, with tufting enteropathy, congenital (DIAR5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:613217
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06382966C → Y in DIAR5. 1 PublicationCorresponds to variant dbSNP:rs267606785EnsemblClinVar.1
Hereditary non-polyposis colorectal cancer 8 (HNPCC8)1 Publication
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.
Disease descriptionAn 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.
See also OMIM:613244

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi74N → A: Changed glycosylation pattern. Complete loss of glycosylation and substantial decrease in protein expression; when associated with A-111 and A-198. 1 Publication1
Mutagenesisi111N → A: Changed glycosylation pattern. Complete loss of glycosylation and substantial decrease in protein expression; when associated with A-74 and A-198. 1 Publication1
Mutagenesisi198N → A: Decreased glycosyation, 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. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary nonpolyposis colorectal cancer

Organism-specific databases

DisGeNETi4072
GeneReviewsiEPCAM
MalaCardsiEPCAM
MIMi613217 phenotype
613244 phenotype
OpenTargetsiENSG00000119888
Orphaneti92050 Congenital tufting enteropathy
144 Lynch syndrome
PharmGKBiPA35493

Chemistry databases

ChEMBLiCHEMBL3580493
DrugBankiDB05831 ING-1
DB05319 oportuzumab monatox

Polymorphism and mutation databases

BioMutaiEPCAM
DMDMi160266056

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000002246724 – 314Epithelial cell adhesion moleculeAdd BLAST291

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi27 ↔ 46PROSITE-ProRule annotation1 Publication
Disulfide bondi29 ↔ 59PROSITE-ProRule annotation1 Publication
Disulfide bondi38 ↔ 48PROSITE-ProRule annotation1 Publication
Disulfide bondi66 ↔ 99PROSITE-ProRule annotation1 Publication
Glycosylationi74N-linked (GlcNAc...) asparagine; partial2 Publications1
Disulfide bondi110 ↔ 116PROSITE-ProRule annotation1 Publication
Glycosylationi111N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi118 ↔ 135PROSITE-ProRule annotation1 Publication
Glycosylationi198N-linked (GlcNAc...) asparagine2 Publications1

Post-translational modificationi

Hyperglycosylated in carcinoma tissue as compared with autologous normal epithelia. Glycosylation at Asn-198 is crucial for protein stability.3 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP16422
MaxQBiP16422
PaxDbiP16422
PeptideAtlasiP16422
PRIDEiP16422
ProteomicsDBi53359

PTM databases

GlyConnecti1217
iPTMnetiP16422
PhosphoSitePlusiP16422

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000119888 Expressed in 196 organ(s), highest expression level in jejunal mucosa
CleanExiHS_EPCAM
ExpressionAtlasiP16422 baseline and differential
GenevisibleiP16422 HS

Organism-specific databases

HPAiCAB003809
CAB030012
CAB055098
HPA026761
HPA067463

Interactioni

Subunit structurei

Monomer. Interacts with phosphorylated CLDN7.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110250, 5 interactors
IntActiP16422, 2 interactors
STRINGi9606.ENSP00000263735

Structurei

Secondary structure

1314
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP16422
SMRiP16422
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini63 – 135Thyroglobulin type-1PROSITE-ProRule annotationAdd BLAST73

Sequence similaritiesi

Belongs to the EPCAM family.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFI6 Eukaryota
ENOG4111M3B LUCA
GeneTreeiENSGT00390000018245
HOGENOMiHOG000074086
InParanoidiP16422
KOiK06737
PhylomeDBiP16422
TreeFamiTF332767

Family and domain databases

CDDicd00191 TY, 1 hit
Gene3Di4.10.800.10, 1 hit
InterProiView protein in InterPro
IPR000716 Thyroglobulin_1
IPR036857 Thyroglobulin_1_sf
PfamiView protein in Pfam
PF00086 Thyroglobulin_1, 1 hit
SMARTiView protein in SMART
SM00211 TY, 1 hit
SUPFAMiSSF57610 SSF57610, 1 hit
PROSITEiView protein in PROSITE
PS00484 THYROGLOBULIN_1_1, 1 hit
PS51162 THYROGLOBULIN_1_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P16422-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAPPQVLAFG LLLAAATATF AAAQEECVCE NYKLAVNCFV NNNRQCQCTS
60 70 80 90 100
VGAQNTVICS KLAAKCLVMK AEMNGSKLGR RAKPEGALQN NDGLYDPDCD
110 120 130 140 150
ESGLFKAKQC NGTSMCWCVN TAGVRRTDKD TEITCSERVR TYWIIIELKH
160 170 180 190 200
KAREKPYDSK SLRTALQKEI TTRYQLDPKF ITSILYENNV ITIDLVQNSS
210 220 230 240 250
QKTQNDVDIA DVAYYFEKDV KGESLFHSKK MDLTVNGEQL DLDPGQTLIY
260 270 280 290 300
YVDEKAPEFS MQGLKAGVIA VIVVVVIAVV AGIVVLVISR KKRMAKYEKA
310
EIKEMGEMHR ELNA
Length:314
Mass (Da):34,932
Last modified:November 13, 2007 - v2
Checksum:i023FCE418B2F1079
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B5MCA4B5MCA4_HUMAN
Epithelial cell adhesion molecule
EPCAM
342Annotation score:
C9JKY3C9JKY3_HUMAN
Epithelial cell adhesion molecule
EPCAM
199Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti277I → M in AAA36151 (PubMed:2463074).Curated1
Sequence conflicti277I → M in CAA32870 (PubMed:2463074).Curated1
Sequence conflicti277I → M in AAA59543 (PubMed:2469722).Curated1
Sequence conflicti303K → R in CAG47055 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06382966C → Y in DIAR5. 1 PublicationCorresponds to variant dbSNP:rs267606785EnsemblClinVar.1
Natural variantiVAR_018329115M → T4 PublicationsCorresponds to variant dbSNP:rs1126497EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M32325 mRNA Translation: AAA36151.1
X14758 mRNA Translation: CAA32870.1
M26481 mRNA Translation: AAA59543.1
M32306 mRNA Translation: AAA35723.1
M33011 mRNA Translation: AAA35861.1
M93036
, M93029, M93030, M93031, M93032, M93033, M93034, M93035 Genomic DNA Translation: AAB00775.1
CR542259 mRNA Translation: CAG47055.1
CR542283 mRNA Translation: CAG47078.1
AC079775 Genomic DNA Translation: AAY15095.1
CH471053 Genomic DNA Translation: EAX00218.1
BC014785 mRNA Translation: AAH14785.1
CCDSiCCDS1833.1
PIRiB48149
RefSeqiNP_002345.2, NM_002354.2
UniGeneiHs.542050

Genome annotation databases

EnsembliENST00000263735; ENSP00000263735; ENSG00000119888
GeneIDi4072
KEGGihsa:4072
UCSCiuc002rvx.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M32325 mRNA Translation: AAA36151.1
X14758 mRNA Translation: CAA32870.1
M26481 mRNA Translation: AAA59543.1
M32306 mRNA Translation: AAA35723.1
M33011 mRNA Translation: AAA35861.1
M93036
, M93029, M93030, M93031, M93032, M93033, M93034, M93035 Genomic DNA Translation: AAB00775.1
CR542259 mRNA Translation: CAG47055.1
CR542283 mRNA Translation: CAG47078.1
AC079775 Genomic DNA Translation: AAY15095.1
CH471053 Genomic DNA Translation: EAX00218.1
BC014785 mRNA Translation: AAH14785.1
CCDSiCCDS1833.1
PIRiB48149
RefSeqiNP_002345.2, NM_002354.2
UniGeneiHs.542050

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4MZVX-ray1.86A24-265[»]
ProteinModelPortaliP16422
SMRiP16422
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110250, 5 interactors
IntActiP16422, 2 interactors
STRINGi9606.ENSP00000263735

Chemistry databases

ChEMBLiCHEMBL3580493
DrugBankiDB05831 ING-1
DB05319 oportuzumab monatox

PTM databases

GlyConnecti1217
iPTMnetiP16422
PhosphoSitePlusiP16422

Polymorphism and mutation databases

BioMutaiEPCAM
DMDMi160266056

Proteomic databases

EPDiP16422
MaxQBiP16422
PaxDbiP16422
PeptideAtlasiP16422
PRIDEiP16422
ProteomicsDBi53359

Protocols and materials databases

DNASUi4072
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263735; ENSP00000263735; ENSG00000119888
GeneIDi4072
KEGGihsa:4072
UCSCiuc002rvx.4 human

Organism-specific databases

CTDi4072
DisGeNETi4072
EuPathDBiHostDB:ENSG00000119888.10
GeneCardsiEPCAM
GeneReviewsiEPCAM
H-InvDBiHIX0002040
HGNCiHGNC:11529 EPCAM
HPAiCAB003809
CAB030012
CAB055098
HPA026761
HPA067463
MalaCardsiEPCAM
MIMi185535 gene
613217 phenotype
613244 phenotype
neXtProtiNX_P16422
OpenTargetsiENSG00000119888
Orphaneti92050 Congenital tufting enteropathy
144 Lynch syndrome
PharmGKBiPA35493
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFI6 Eukaryota
ENOG4111M3B LUCA
GeneTreeiENSGT00390000018245
HOGENOMiHOG000074086
InParanoidiP16422
KOiK06737
PhylomeDBiP16422
TreeFamiTF332767

Enzyme and pathway databases

ReactomeiR-HSA-202733 Cell surface interactions at the vascular wall
SIGNORiP16422

Miscellaneous databases

ChiTaRSiEPCAM human
GeneWikiiEpithelial_cell_adhesion_molecule
GenomeRNAii4072
PROiPR:P16422
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119888 Expressed in 196 organ(s), highest expression level in jejunal mucosa
CleanExiHS_EPCAM
ExpressionAtlasiP16422 baseline and differential
GenevisibleiP16422 HS

Family and domain databases

CDDicd00191 TY, 1 hit
Gene3Di4.10.800.10, 1 hit
InterProiView protein in InterPro
IPR000716 Thyroglobulin_1
IPR036857 Thyroglobulin_1_sf
PfamiView protein in Pfam
PF00086 Thyroglobulin_1, 1 hit
SMARTiView protein in SMART
SM00211 TY, 1 hit
SUPFAMiSSF57610 SSF57610, 1 hit
PROSITEiView protein in PROSITE
PS00484 THYROGLOBULIN_1_1, 1 hit
PS51162 THYROGLOBULIN_1_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiEPCAM_HUMAN
AccessioniPrimary (citable) accession number: P16422
Secondary accession number(s): P18180
, Q6FG26, Q6FG49, Q96C47, Q9UCD0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: November 13, 2007
Last modified: November 7, 2018
This is version 183 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
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Main funding by: National Institutes of Health

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