HEPACAM
entrez
220296
canonical
uniprot
Q14CZ8
canonical
ensembl
ENSG00000165478
resolver
ensp
ENSP00000298251
resolver
ensp
ENSP00000515485
resolver
ensp
ENSP00000542187
resolver
enst
ENST00000703807
resolver
genesymbol
HEPACAM
resolver
hgnc
HGNC:26361
resolver
uniprot
A0A994J4I1
resolver
uniprot
Q67IP8
resolver
uniprot
Q6ZWL4
resolver
uniprot
Q8N7I3
resolver
uniprot
Q8ND35
resolver
uniprot_entry
A0A994J4I1_HUMAN
resolver
uniprot_entry
HECAM_HUMAN
resolver
uniprot_sec
Q67IP8
resolver
uniprot_sec
Q6ZWL4
resolver
uniprot_sec
Q8N7I3
resolver
uniprot_sec
Q8ND35
resolver
amino_acid_sequence
MKRERGALSRASRALRLAPFVYLLLIQTDPLEGVNITSPVRLIHGTVGKSALLSVQYSSTSSDRPVVKWQLKRDKPVTVVQSIGTEVIGTLRPDYRDRIRLFENGSLLLSDLQLADEGTYEVEISITDDTFTGEKTINLTVDVPISRPQVLVASTTVLELSEAFTLNCSHENGTKPSYTWLKDGKPLLNDSRMLLSPDQKVLTITRVLMEDDDLYSCMVENPISQGRSLPVKITVYRRSSLYIILSTGGIFLLVTLVTVCACWKPSKRKQKKLEKQNSLEYMDQNDDRLKPEADTLPRSGEQERKNPMALYILKDKDSPETEENPAPEPRSATEPGPPGYSVSPAVPGRSPGLPIRSARRYPRSPARSPATGRTHSSPPRAPSSPGRSRSASRTLRTAGVHIIREQDEAGPVEISA
uniprot
proteins
disease_involvement
DISEASE: Megalencephalic leukoencephalopathy 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:0000269|PubMed:21419380, ECO:0000269|PubMed:22405205}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development (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:0000269|PubMed:21419380, ECO:0000269|PubMed:22405205}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation (PubMed:15885354, PubMed:15917256). In glia, associates and targets CLCN2 at astrocytic processes and myelinated fiber tracts where it may regulate transcellular chloride flux involved in neuron excitability (PubMed:22405205). {ECO:0000269|PubMed:15885354, ECO:0000269|PubMed:15917256, ECO:0000269|PubMed:22405205}.
uniprot
proteins
mass_dalton
46026
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:15885354, ECO:0000269|PubMed:15917256}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15885354
uniprot
proteins
pubmed
15917256
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21419380
uniprot
proteins
pubmed
22328087
uniprot
proteins
pubmed
22405205
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
35073561
uniprot
proteins
sequence_length
416
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15885354, ECO:0000269|PubMed:15917256}. Cell membrane {ECO:0000269|PubMed:22405205}; Single-pass type I membrane protein; Cytoplasmic side {ECO:0000269|PubMed:15885354, ECO:0000269|PubMed:15917256}. Note=Colocalizes with CLCN2 at astrocyte end-foot in contact with brain capillaries and other glial cells (By similarity). 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. {ECO:0000250|UniProtKB:Q640R3}.
uniprot
proteins
transmembrane_region
TRANSMEM 241..261; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins