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    Hfe hemochromatosis [ Mus musculus (house mouse) ]

    Gene ID: 15216, updated on 20-Feb-2018
    Official Symbol
    Hfeprovided by MGI
    Official Full Name
    hemochromatosisprovided by MGI
    Primary source
    MGI:MGI:109191
    See related
    Ensembl:ENSMUSG00000006611 Vega:OTTMUSG00000000737
    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
    MR2
    Expression
    Broad expression in subcutaneous fat pad adult (RPKM 24.7), liver adult (RPKM 10.9) and 19 other tissues See more
    Orthologs
    Location:
    13 A3.1; 13 9.88 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 13 NC_000079.6 (23702730..23710986, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 13 NC_000079.5 (23795710..23802680, complement)

    Chromosome 13 - NC_000079.6Genomic Context describing neighboring genes Neighboring gene histone cluster 1, H1t Neighboring gene histone cluster 1, H4c Neighboring gene family with sequence similarity 113, member A pseudogene Neighboring gene histone cluster 1, H1c

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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Hfe effect on hepcidin production, organism-specific biosystem (from WikiPathways)
      Hfe effect on hepcidin production, organism-specific biosystemHfe, the mouse equivalent of the human hemochromatosis gene, is known to promote expression of hepcidin, a gene product that inhibits iron absorption, but it is not fully clear how it does this, or a...
    • Iron Homeostasis, organism-specific biosystem (from WikiPathways)
      Iron Homeostasis, organism-specific biosystemIron is nessisary for all mammalian cells but is also toxic in excess. This pathway shows the regulation of iron between a cell and the blood stream.
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC151121, MGC151123

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    beta-2-microglobulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    co-receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    transferrin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transferrin receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    BMP signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    cellular iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to iron ion ISO
    Inferred from Sequence Orthology
    more info
     
    hormone biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    iron ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    iron ion import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    iron ion import across plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    multicellular organismal iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of CD8-positive, alpha-beta T cell activation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of T cell antigen processing and presentation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of T cell cytokine production ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of proteasomal ubiquitin-dependent protein catabolic process IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of ubiquitin-dependent protein catabolic process IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of ferrous iron binding ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of ferrous iron import across plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of pathway-restricted SMAD protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of peptide hormone secretion ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of receptor-mediated endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transferrin receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of protein localization to cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    response to iron ion ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    HFE-transferrin receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    HFE-transferrin receptor complex ISO
    Inferred from Sequence Orthology
    more info
     
    apical part of cell ISO
    Inferred from Sequence Orthology
    more info
     
    basal part of cell ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    external side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    recycling endosome ISO
    Inferred from Sequence Orthology
    more info
     
    terminal web ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    hereditary hemochromatosis protein homolog

    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_001347493.1NP_001334422.1  hereditary hemochromatosis protein homolog isoform b precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AK150697, AL592149, BE995172, BY198206
      Consensus CDS
      CCDS84012.1
      UniProtKB/Swiss-Prot
      P70387
      UniProtKB/TrEMBL
      Q5SZ87
    2. NM_010424.5NP_034554.2  hereditary hemochromatosis protein homolog isoform a precursor

      See identical proteins and their annotated locations for NP_034554.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK150697, AL592149, BY198206
      Consensus CDS
      CCDS26360.1
      UniProtKB/Swiss-Prot
      P70387
      Related
      ENSMUSP00000089298.6, OTTMUSP00000000659, ENSMUST00000091706.13, OTTMUST00000001384
      Conserved Domains (2) summary
      cl08246
      Location:31214
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      cl11960
      Location:218310
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000079.6 Reference GRCm38.p4 C57BL/6J

      Range
      23702730..23710986 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006516557.3XP_006516620.1  hereditary hemochromatosis protein homolog isoform X2

      Related
      ENSMUSP00000089299.6, OTTMUSP00000000661, ENSMUST00000091707.12, OTTMUST00000001386
      Conserved Domains (2) summary
      cl08246
      Location:39126
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      cl11960
      Location:130222
      Ig; Immunoglobulin domain
    2. XM_011244284.2XP_011242586.1  hereditary hemochromatosis protein homolog isoform X1

      See identical proteins and their annotated locations for XP_011242586.1

      Conserved Domains (2) summary
      cl08246
      Location:4176
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      cl11960
      Location:180272
      Ig; Immunoglobulin domain
    3. XM_006516556.3XP_006516619.1  hereditary hemochromatosis protein homolog isoform X1

      See identical proteins and their annotated locations for XP_006516619.1

      Conserved Domains (2) summary
      cl08246
      Location:4176
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      cl11960
      Location:180272
      Ig; Immunoglobulin domain
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