U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 72927, updated on 14-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

Alleles

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

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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 cell-cell junction IEA
Inferred from Electronic Annotation
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

Go to the top of the page Help
Preferred Names
hepatic and glial cell adhesion molecule
Names
protein hepaCAM

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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
Molecular Biology Databases
Research Materials
Tools