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HEPACAM hepatic and glial cell adhesion molecule [ Homo sapiens (human) ]

Gene ID: 220296, updated on 7-Sep-2023

Summary

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Official Symbol
HEPACAMprovided by HGNC
Official Full Name
hepatic and glial cell adhesion moleculeprovided by HGNC
Primary source
HGNC:HGNC:26361
See related
Ensembl:ENSG00000165478 MIM:611642; AllianceGenome:HGNC:26361
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEPN1; MLC2A; MLC2B; GlialCAM
Summary
The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
Expression
Biased expression in brain (RPKM 47.9), fat (RPKM 15.6) and 1 other tissue See more
Orthologs
mouse all
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Genomic context

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See HEPACAM in Genome Data Viewer
Location:
11q24.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (124919205..124936047, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (124947841..124964684, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (124789101..124805943, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124735644-124736320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:124738370-124738900 Neighboring gene Sharpr-MPRA regulatory region 2144 Neighboring gene roundabout guidance receptor 3 Neighboring gene Sharpr-MPRA regulatory region 10426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124756054-124756568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124756569-124757082 Neighboring gene uncharacterized LOC107984406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124767654-124768276 Neighboring gene roundabout guidance receptor 4 Neighboring gene hepatocellular carcinoma, down-regulated 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:124823758-124824301 Neighboring gene CCDC15 divergent transcript Neighboring gene coiled-coil domain containing 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124853252-124854004

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Panobinostat reverses HepaCAM gene expression and suppresses proliferation by increasing histone acetylation in prostate cancer. Chen E, et al. Gene, 2022 Jan 15. PMID 34592353
  2. [Analysis of a child with megalencephalic leukoencephalopathy with subcortical cyst type 2B caused by HEPACAM variant]. Xu M, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2020 May 10. PMID 32335882
  3. Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models. Shi Z, et al. World J Pediatr, 2019 Oct. PMID 31372844, Free PMC Article
  4. HepaCAM inhibits the malignant behavior of castration-resistant prostate cancer cells by downregulating Notch signaling and PF-3084014 (a γ-secretase inhibitor) partly reverses the resistance of refractory prostate cancer to docetaxel and enzalutamide in vitro. Du Z, et al. Int J Oncol, 2018 Jul. PMID 29658567, Free PMC Article
  5. Overexpression of Hepatocyte Cell Adhesion Molecule (hepaCAM) Inhibits the Proliferation, Migration, and Invasion in Colorectal Cancer Cells. Geng HT, et al. Oncol Res, 2017 Aug 7. PMID 28244854, Free PMC Article

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Panobinostat reverses HepaCAM gene expression and suppresses proliferation by increasing histone acetylation in prostate cancer.
    Title: Panobinostat reverses HepaCAM gene expression and suppresses proliferation by increasing histone acetylation in prostate cancer.
  2. Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.
    Title: Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.
  3. Long noncoding RNA HOTAIR regulates the invasion and metastasis of prostate cancer by targeting hepaCAM.
    Title: Long noncoding RNA HOTAIR regulates the invasion and metastasis of prostate cancer by targeting hepaCAM.
  4. The heterozygous variant of the HEPACAM gene probably underlies the megalencephalic leukoencephalopathy with subcortical cyst in this child
    Title: [Analysis of a child with megalencephalic leukoencephalopathy with subcortical cyst type 2B caused by HEPACAM variant].
  5. Six patients were clinically diagnosed with MLC. Of the six patients, five (Pt1-Pt5) presented with a heterozygous mutation in GLIALCAM (c.274C>T(p.Arg92Trp) or c.275G>C(p.Arg92Pro)) and were diagnosed with MLC2B; the remaining patient (Pt6) with two compound heterozygous mutations in GLIALCAM (c.203A>T (p.Lys68Met) and c.395C>A (p.Thr132Asn)) was diagnosed with MLC2A. The mutation c.275C>G (p.Arg92Pro) has not been repor
    Title: Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models.
  6. The results suggest that HepaCAM and its cytoplasmic domain suppress the nuclear translocation of AR via Ran in prostate cancer (PCa). The cytoplasmic domain of HepaCAM may serve as a novel target for therapy in PCa.
    Title: HepaCAM inhibits cell proliferation and invasion in prostate cancer by suppressing nuclear translocation of the androgen receptor via its cytoplasmic domain.
  7. On the whole, this study indicates that HepaCAM potentially represents a therapeutic target and PF3084014 may prove to a promising agent for use in the treatment of refractory prostate cancer.
    Title: HepaCAM inhibits the malignant behavior of castration-resistant prostate cancer cells by downregulating Notch signaling and PF-3084014 (a γ-secretase inhibitor) partly reverses the resistance of refractory prostate cancer to docetaxel and enzalutamide in vitro.
  8. hepaCAM associates with connexin 43, a main component of gap junctions, and enhances connexin 43 localization to the plasma membrane at cellular junctions.
    Title: HepaCAM associates with connexin 43 and enhances its localization in cellular junctions.
  9. this study revealed that hepaCAM was downregulated in CRC tissues and cell lines. Overexpression of hepaCAM inhibited CRC cell proliferation, migration, and invasion in vitro. Furthermore, the tumorigenesis assay showed that increased expression of hepaCAM suppressed CRC tumor growth and metastasis in vivo.
    Title: Overexpression of Hepatocyte Cell Adhesion Molecule (hepaCAM) Inhibits the Proliferation, Migration, and Invasion in Colorectal Cancer Cells.
  10. In a group of Egyptian patients with megalencephalic leukoencephalopathy, novel mutations were identified in HEPACAM.
    Title: Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.
Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ25530

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in axon IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
hepatic and glial cell adhesion molecule; hepatocyte cell adhesion molecule
Names
Putative cancer susceptibility gene HEPN1 protein
protein hepaCAM

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029603.1 RefSeqGene

    Range
    5366..22208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001411043.1 → NP_001397972.1  hepatic and glial cell adhesion molecule isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AP003501
    Consensus CDS
    CCDS91616.1
    UniProtKB/TrEMBL
    A0A994J4I1
    Related
    ENSP00000515485.1, ENST00000703807.1

  2. NM_152722.5 → NP_689935.2  hepatic and glial cell adhesion molecule isoform 1 precursor

    See identical proteins and their annotated locations for NP_689935.2

    Status: REVIEWED

    Source sequence(s)
    AP003501, AY047587, BC037810, BC113562, DA239226
    Consensus CDS
    CCDS8456.1
    UniProtKB/Swiss-Prot
    Q14CZ8, Q67IP8, Q6ZWL4, Q8N7I3, Q8ND35
    Related
    ENSP00000298251.4, ENST00000298251.5
    Conserved Domains (3) summary
    smart00410
    Location:154 → 235
    IG_like; Immunoglobulin like
    pfam07686
    Location:41 → 141
    V-set; Immunoglobulin V-set domain
    pfam13895
    Location:150 → 235
    Ig_2; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    124919205..124936047 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271449.3 → XP_005271506.1  hepatocyte cell adhesion molecule isoform X1

    See identical proteins and their annotated locations for XP_005271506.1

    Conserved Domains (3) summary
    smart00410
    Location:154 → 235
    IG_like; Immunoglobulin like
    pfam07686
    Location:41 → 141
    V-set; Immunoglobulin V-set domain
    pfam13895
    Location:150 → 235
    Ig_2; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    124947841..124964684 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368035.1 → XP_054224010.1  hepatocyte cell adhesion molecule isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14CZ8.1 GenPept UniProtKB/Swiss-Prot:Q14CZ8

Gene LinkOut

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