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

    Gene ID: 220296, updated on 10-Dec-2024

    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (124919205..124936047, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (124947841..124964684, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 4035 Neighboring gene Sharpr-MPRA regulatory region 10426 Neighboring gene roundabout guidance receptor 3 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 MPRA-validated peak1499 silencer 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. Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy. Arnedo T, et al. Hum Mutat, 2014 Oct. PMID 25044933
    2. The immunoglobulin-like cell adhesion molecule hepaCAM modulates cell adhesion and motility through direct interaction with the actin cytoskeleton. Moh MC, et al. J Cell Physiol, 2009 May. PMID 19142852
    3. The immunoglobulin-like cell adhesion molecule hepaCAM induces differentiation of human glioblastoma U373-MG cells. Lee LH, et al. J Cell Biochem, 2009 Aug 15. PMID 19507233
    4. Functional significance of the hepaCAM gene in bladder cancer. He Y, et al. BMC Cancer, 2010 Mar 8. PMID 20205955, Free PMC Article
    5. The immunoglobulin-like cell adhesion molecule hepaCAM is cleaved in the human breast carcinoma MCF7 cells. Zhang T, et al. Int J Oncol, 2010 Jul. PMID 20514407

    See all (55) 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)

    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 immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to cell-cell junction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in astrocyte end-foot IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    hepatic and glial cell adhesion molecule
    Names
    Putative cancer susceptibility gene HEPN1 protein
    hepatocyte cell adhesion molecule
    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_2024_08

    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  hepatic and glial 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  hepatic and glial 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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