InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HEPACAM

Summary

InnateDB Protein

IDBP-75355.6

Last Modified

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

Gene Symbol

HEPACAM

Protein Name

hepatic and glial cell adhesion molecule

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000298251

InnateDB Gene

IDBG-75353 (HEPACAM)

Protein Structure

UniProt Annotation

Function

Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation. {ECO:0000269PubMed:15885354, ECO:0000269PubMed:15917256}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:15885354, ECO:0000269PubMed:15917256}. Membrane; Single-pass type I membrane protein; Cytoplasmic side {ECO:0000269PubMed:15885354, ECO:0000269PubMed:15917256}. 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.

Disease Associations

Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925]: A 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. {ECO:0000269PubMed:21419380}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) [MIM:613926]: A 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. {ECO:0000269PubMed:21419380}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0007050	cell cycle arrest
GO:0007155	cell adhesion
GO:0034613	cellular protein localization
GO:0040008	regulation of growth

Cellular Component

GO:0005737	cytoplasm
GO:0005911	cell-cell junction
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030424	axon

Protein Structure and Domains

PDB ID

InterPro

IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR007110 Immunoglobulin-like domain
IPR013098 Immunoglobulin I-set
IPR013106 Immunoglobulin V-set domain
IPR013151 Immunoglobulin

PFAM

PF07679
PF07686
PF00047

PRINTS

PIRSF

SMART

SM00408
SM00409

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q14CZ8