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    Hepacam hepatocyte cell adhesion molecule [ Mus musculus (house mouse) ]

    Gene ID: 72927, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Hepacamprovided by MGI
    Official Full Name
    hepatocyte cell adhesion moleculeprovided by MGI
    Primary source
    MGI:MGI:1920177
    See related
    Ensembl:ENSMUSG00000046240 AllianceGenome:MGI:1920177
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Hepn1; Glialcam; 2900042E01Rik
    Summary
    Predicted to be involved in immune response. Predicted to be located in astrocyte end-foot. Predicted to be active in cell-cell junction. Is expressed in several structures, including alimentary system; heart; nervous system; sensory organ; and skeleton. Used to study megalencephalic leukoencephalopathy with subcortical cysts. Human ortholog(s) of this gene implicated in megalencephalic leukoencephalopathy with subcortical cysts 2A and megalencephalic leukoencephalopathy with subcortical cysts 2B. Orthologous to human HEPACAM (hepatic and glial cell adhesion molecule). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 30.4), cortex adult (RPKM 23.5) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Hepacam in Genome Data Viewer
    Location:
    9 A4; 9 20.76 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (37278652..37297868)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (37367356..37386572)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 15 Neighboring gene high mobility group box 3 pseudogene Neighboring gene predicted gene, 34885 Neighboring gene STARR-seq mESC enhancer starr_23800 Neighboring gene STARR-positive B cell enhancer ABC_E6724 Neighboring gene STARR-seq mESC enhancer starr_23802 Neighboring gene STARR-seq mESC enhancer starr_23805 Neighboring gene roundabout guidance receptor 4 Neighboring gene STARR-positive B cell enhancer ABC_E5061 Neighboring gene roundabout guidance receptor 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system. Favre-Kontula L, et al. Glia, 2008 Apr 15. PMID 18293412
    2. HepaCAM controls astrocyte self-organization and coupling. Baldwin KT, et al. Neuron, 2021 Aug 4. PMID 34171291, Free PMC Article
    3. Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model. Bugiani M, et al. Ann Clin Transl Neurol, 2017 Jul. PMID 28695146, Free PMC Article
    4. Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts. Dubey M, et al. Ann Neurol, 2018 Mar. PMID 29466841, Free PMC Article
    5. Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction. Hoegg-Beiler MB, et al. Nat Commun, 2014 Mar 19. PMID 24647135

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Astroglial exosome HepaCAM signaling and ApoE antagonization coordinates early postnatal cortical pyramidal neuronal axon growth and dendritic spine formation.
      Title: Astroglial exosome HepaCAM signaling and ApoE antagonization coordinates early postnatal cortical pyramidal neuronal axon growth and dendritic spine formation.
    2. HepaCAM controls astrocyte self-organization and coupling.
      Title: HepaCAM controls astrocyte self-organization and coupling.
    3. we demonstrate an evolutionary conserved role for MLC1 in regulating glial surface levels of GLIALCAM, and this interrelationship explains why patients with mutations in either gene (MLC1 or GLIALCAM) share the same clinical phenotype.
      Title: Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
    4. Data indicate that membrane protein MLC1 is crucial for proper localization of adhesion molecule GlialCAM and chloride channel ClC-2, and for changing ClC-2 currents.
      Title: Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.
    5. GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system.
      Title: GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (3)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 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 astrocyte end-foot IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in astrocyte end-foot ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    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.

    mRNA and Protein(s)

    1. NM_175189.4 → NP_780398.2  hepatic and glial cell adhesion molecule precursor

      See identical proteins and their annotated locations for NP_780398.2

      Status: VALIDATED

      Source sequence(s)
      AW060627, BC082537, BY753058
      Consensus CDS
      CCDS22976.1
      UniProtKB/Swiss-Prot
      Q640R3
      UniProtKB/TrEMBL
      B2RSY3
      Related
      ENSMUSP00000054105.8, ENSMUST00000051839.9
      Conserved Domains (3) summary
      pfam07686
      Location:41 → 141
      V-set; Immunoglobulin V-set domain
      cd00096
      Location:164 → 228
      Ig; Immunoglobulin domain
      cl26349
      Location:324 → 383
      GlyL_C; dsDNA virus glycoprotein L C terminal

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      37278652..37297868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510638.3 → XP_006510701.1  hepatic and glial cell adhesion molecule isoform X1

      See identical proteins and their annotated locations for XP_006510701.1

      Conserved Domains (2) summary
      smart00410
      Location:4 → 43
      IG_like; Immunoglobulin like
      cl29975
      Location:132 → 191
      Herpes_UL1; Herpesvirus glycoprotein L
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q640R3.2 GenPept UniProtKB/Swiss-Prot:Q640R3

    Gene LinkOut

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

    Chemical Information
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