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Protein

Hepatocyte cell adhesion molecule

Gene

HEPACAM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation.2 Publications

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell adhesion, Cell cycle, Growth arrest, Growth regulation

Protein family/group databases

TCDBi8.A.23.1.5. the basigin (basigin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Hepatocyte cell adhesion molecule
Short name:
Protein hepaCAM
Gene namesi
Name:HEPACAMImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:26361. HEPACAM.

Subcellular locationi

  • Cytoplasm 2 Publications
  • Membrane; Single-pass type I membrane protein; Cytoplasmic side 2 Publications

  • Note: In MCF-7 breast carcinoma and hepatic Hep 3B2.1-7 and Hep-G2 cell lines, localization of HEPACAM is cell density-dependent. In well spread cells, localized to punctate structures in the perinuclear membrane, cytoplasm, and at cell surface of protusions. In confluent cells, localized predominantly to the cytoplasmic membrane, particularly in areas of cell-cell contacts. Colocalizes with CDH1.

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini34 – 240ExtracellularSequence analysisAdd BLAST207
Transmembranei241 – 261HelicalSequence analysisAdd BLAST21
Topological domaini262 – 416CytoplasmicSequence analysisAdd BLAST155

GO - Cellular componenti

  • axon Source: MGI
  • cell-cell junction Source: MGI
  • cytoplasm Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease.
See also OMIM:613925
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06584923L → H in MLC2A. 1 Publication1
Natural variantiVAR_06585292R → Q in MLC2A. 1 PublicationCorresponds to variant rs387907050dbSNPEnsembl.1
Natural variantiVAR_06585498R → C in MLC2A. 1 PublicationCorresponds to variant rs387907052dbSNPEnsembl.1
Natural variantiVAR_065857148P → S in MLC2A. 1 Publication1
Natural variantiVAR_065858196S → Y in MLC2A. 1 PublicationCorresponds to variant rs387907049dbSNPEnsembl.1
Natural variantiVAR_065859211D → N in MLC2A. 1 PublicationCorresponds to variant rs387907051dbSNPEnsembl.1
Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas others have a significant cognitive deficiency.
See also OMIM:613926
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06585089G → D in MLC2B. 1 PublicationCorresponds to variant rs387907054dbSNPEnsembl.1
Natural variantiVAR_06585189G → S in MLC2B. 1 PublicationCorresponds to variant rs387907053dbSNPEnsembl.1
Natural variantiVAR_06585392R → W in MLC2B. 1 PublicationCorresponds to variant rs387907055dbSNPEnsembl.1
Natural variantiVAR_065855128D → N in MLC2B. 1 Publication1
Natural variantiVAR_065856135Missing in MLC2B. 1 Publication1
Natural variantiVAR_065860288R → C in MLC2B. 1 PublicationCorresponds to variant rs149782549dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi220296.
MalaCardsiHEPACAM.
MIMi613925. phenotype.
613926. phenotype.
OpenTargetsiENSG00000165478.
Orphaneti2478. Megalencephalic leukoencephalopathy with subcortical cysts.
PharmGKBiPA162390830.

Polymorphism and mutation databases

BioMutaiHEPACAM.
DMDMi121945515.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 33Sequence analysisAdd BLAST33
ChainiPRO_000029877734 – 416Hepatocyte cell adhesion moleculeSequence analysisAdd BLAST383

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi35N-linked (GlcNAc...)Sequence analysis1
Glycosylationi138N-linked (GlcNAc...)Sequence analysis1
Glycosylationi167N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi168 ↔ 217PROSITE-ProRule annotation
Glycosylationi189N-linked (GlcNAc...)Sequence analysis1
Modified residuei278PhosphoserineBy similarity1
Modified residuei350PhosphoserineBy similarity1
Modified residuei377PhosphoserineBy similarity1

Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ14CZ8.
PaxDbiQ14CZ8.
PeptideAtlasiQ14CZ8.
PRIDEiQ14CZ8.

PTM databases

iPTMnetiQ14CZ8.
PhosphoSitePlusiQ14CZ8.

Expressioni

Inductioni

Down-regulated in 20 out of 23 of hepatocellular carcinoma (HCC) samples and is undetectable in 5 HCC cell lines tested.1 Publication

Gene expression databases

BgeeiENSG00000165478.
CleanExiHS_HEPACAM.
GenevisibleiQ14CZ8. HS.

Organism-specific databases

HPAiCAB025486.

Interactioni

Subunit structurei

Homodimer. Dimer formation occurs predominantly through cis interactions on the cell surface. Part of a complex containing MLC1, TRPV4, AQP4 and ATP1B1.2 Publications

Protein-protein interaction databases

BioGridi128639. 1 interactor.
STRINGi9606.ENSP00000298251.

Structurei

3D structure databases

ProteinModelPortaliQ14CZ8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 142Ig-like V-typeSequence analysisAdd BLAST109
Domaini148 – 234Ig-like C2-typeSequence analysisAdd BLAST87

Domaini

The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility.1 Publication

Sequence similaritiesi

Contains 1 Ig-like V-type (immunoglobulin-like) domain.Sequence analysis

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFBM. Eukaryota.
ENOG410ZWCW. LUCA.
GeneTreeiENSGT00530000063550.
HOGENOMiHOG000060194.
HOVERGENiHBG107974.
InParanoidiQ14CZ8.
OMAiPIKITVY.
OrthoDBiEOG091G094F.
PhylomeDBiQ14CZ8.
TreeFamiTF331199.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF07686. V-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 2 hits.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 11 Publication (identifier: Q14CZ8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKRERGALSR ASRALRLAPF VYLLLIQTDP LEGVNITSPV RLIHGTVGKS
60 70 80 90 100
ALLSVQYSST SSDRPVVKWQ LKRDKPVTVV QSIGTEVIGT LRPDYRDRIR
110 120 130 140 150
LFENGSLLLS DLQLADEGTY EVEISITDDT FTGEKTINLT VDVPISRPQV
160 170 180 190 200
LVASTTVLEL SEAFTLNCSH ENGTKPSYTW LKDGKPLLND SRMLLSPDQK
210 220 230 240 250
VLTITRVLME DDDLYSCMVE NPISQGRSLP VKITVYRRSS LYIILSTGGI
260 270 280 290 300
FLLVTLVTVC ACWKPSKRKQ KKLEKQNSLE YMDQNDDRLK PEADTLPRSG
310 320 330 340 350
EQERKNPMAL YILKDKDSPE TEENPAPEPR SATEPGPPGY SVSPAVPGRS
360 370 380 390 400
PGLPIRSARR YPRSPARSPA TGRTHSSPPR APSSPGRSRS ASRTLRTAGV
410
HIIREQDEAG PVEISA
Length:416
Mass (Da):46,026
Last modified:August 22, 2006 - v1
Checksum:i3CB5111207135F3C
GO
Isoform 21 Publication (identifier: Q14CZ8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     293-367: ADTLPRSGEQ...ARRYPRSPAR → GELPATQSPI...PSTLSVSVHE
     368-416: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:367
Mass (Da):40,564
Checksum:i375DEF58F3C9725A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2K → E in AAQ93018 (PubMed:15885354).Curated1
Sequence conflicti95Y → S in BAC85486 (PubMed:14702039).Curated1
Sequence conflicti284Q → R in AAQ93018 (PubMed:15885354).Curated1
Sequence conflicti293Missing in CAD39081 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06584923L → H in MLC2A. 1 Publication1
Natural variantiVAR_06585089G → D in MLC2B. 1 PublicationCorresponds to variant rs387907054dbSNPEnsembl.1
Natural variantiVAR_06585189G → S in MLC2B. 1 PublicationCorresponds to variant rs387907053dbSNPEnsembl.1
Natural variantiVAR_06585292R → Q in MLC2A. 1 PublicationCorresponds to variant rs387907050dbSNPEnsembl.1
Natural variantiVAR_06585392R → W in MLC2B. 1 PublicationCorresponds to variant rs387907055dbSNPEnsembl.1
Natural variantiVAR_06585498R → C in MLC2A. 1 PublicationCorresponds to variant rs387907052dbSNPEnsembl.1
Natural variantiVAR_065855128D → N in MLC2B. 1 Publication1
Natural variantiVAR_065856135Missing in MLC2B. 1 Publication1
Natural variantiVAR_065857148P → S in MLC2A. 1 Publication1
Natural variantiVAR_065858196S → Y in MLC2A. 1 PublicationCorresponds to variant rs387907049dbSNPEnsembl.1
Natural variantiVAR_065859211D → N in MLC2A. 1 PublicationCorresponds to variant rs387907051dbSNPEnsembl.1
Natural variantiVAR_034731218M → V.2 PublicationsCorresponds to variant rs10790715dbSNPEnsembl.1
Natural variantiVAR_065860288R → C in MLC2B. 1 PublicationCorresponds to variant rs149782549dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_052497293 – 367ADTLP…RSPAR → GELPATQSPIPSTIRSVGCW EKAELGDKENSSAGTLPSDL GASKGKEPEPASLASSHSLP RRHAMPSTLSVSVHE in isoform 2. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_052498368 – 416Missing in isoform 2. 1 PublicationAdd BLAST49

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY047587 mRNA. Translation: AAQ93018.1.
AK098396 mRNA. Translation: BAC05297.1.
AK122595 mRNA. Translation: BAC85486.1.
BC104831 mRNA. Translation: AAI04832.1.
BC113562 mRNA. Translation: AAI13563.1.
AL834419 mRNA. Translation: CAD39081.1.
CCDSiCCDS8456.1. [Q14CZ8-1]
RefSeqiNP_689935.2. NM_152722.4. [Q14CZ8-1]
UniGeneiHs.745294.

Genome annotation databases

EnsembliENST00000298251; ENSP00000298251; ENSG00000165478. [Q14CZ8-1]
GeneIDi220296.
KEGGihsa:220296.
UCSCiuc001qbk.4. human. [Q14CZ8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY047587 mRNA. Translation: AAQ93018.1.
AK098396 mRNA. Translation: BAC05297.1.
AK122595 mRNA. Translation: BAC85486.1.
BC104831 mRNA. Translation: AAI04832.1.
BC113562 mRNA. Translation: AAI13563.1.
AL834419 mRNA. Translation: CAD39081.1.
CCDSiCCDS8456.1. [Q14CZ8-1]
RefSeqiNP_689935.2. NM_152722.4. [Q14CZ8-1]
UniGeneiHs.745294.

3D structure databases

ProteinModelPortaliQ14CZ8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128639. 1 interactor.
STRINGi9606.ENSP00000298251.

Protein family/group databases

TCDBi8.A.23.1.5. the basigin (basigin) family.

PTM databases

iPTMnetiQ14CZ8.
PhosphoSitePlusiQ14CZ8.

Polymorphism and mutation databases

BioMutaiHEPACAM.
DMDMi121945515.

Proteomic databases

MaxQBiQ14CZ8.
PaxDbiQ14CZ8.
PeptideAtlasiQ14CZ8.
PRIDEiQ14CZ8.

Protocols and materials databases

DNASUi220296.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298251; ENSP00000298251; ENSG00000165478. [Q14CZ8-1]
GeneIDi220296.
KEGGihsa:220296.
UCSCiuc001qbk.4. human. [Q14CZ8-1]

Organism-specific databases

CTDi220296.
DisGeNETi220296.
GeneCardsiHEPACAM.
GeneReviewsiHEPACAM.
H-InvDBHIX0010231.
HGNCiHGNC:26361. HEPACAM.
HPAiCAB025486.
MalaCardsiHEPACAM.
MIMi611642. gene.
613925. phenotype.
613926. phenotype.
neXtProtiNX_Q14CZ8.
OpenTargetsiENSG00000165478.
Orphaneti2478. Megalencephalic leukoencephalopathy with subcortical cysts.
PharmGKBiPA162390830.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFBM. Eukaryota.
ENOG410ZWCW. LUCA.
GeneTreeiENSGT00530000063550.
HOGENOMiHOG000060194.
HOVERGENiHBG107974.
InParanoidiQ14CZ8.
OMAiPIKITVY.
OrthoDBiEOG091G094F.
PhylomeDBiQ14CZ8.
TreeFamiTF331199.

Miscellaneous databases

GenomeRNAii220296.
PROiQ14CZ8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165478.
CleanExiHS_HEPACAM.
GenevisibleiQ14CZ8. HS.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF07686. V-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 2 hits.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHECAM_HUMAN
AccessioniPrimary (citable) accession number: Q14CZ8
Secondary accession number(s): Q67IP8
, Q6ZWL4, Q8N7I3, Q8ND35
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: August 22, 2006
Last modified: November 2, 2016
This is version 95 of the entry and version 1 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.