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    Hamp hepcidin antimicrobial peptide [ Mus musculus (house mouse) ]

    Gene ID: 84506, updated on 21-Apr-2024

    Summary

    Official Symbol
    Hampprovided by MGI
    Official Full Name
    hepcidin antimicrobial peptideprovided by MGI
    Primary source
    MGI:MGI:1933533
    See related
    Ensembl:ENSMUSG00000050440 AllianceGenome:MGI:1933533
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Hepc; Hamp1; Hepc1
    Summary
    This gene encodes hepcidin, an antimicrobial peptide and master hormonal regulator of systemic iron metabolism. The encoded preproprotein is synthesized in the hepatocytes where it undergoes proteolytic processing to generate disulfide-linked mature peptides that are secreted into the bloodstream. Mice lacking the encoded protein develop multivisceral iron overlaod, with sparing of the spleen macrophages. Certain mutations in the human ortholog of this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis. This gene is located adjacent to a related hepcidin gene on chromosome 7. [provided by RefSeq, Aug 2016]
    Expression
    Restricted expression toward liver adult (RPKM 2321.3) See more
    Orthologs
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    Genomic context

    Location:
    7 B1; 7 19.27 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (30641793..30643454, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (30942368..30944029, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene hepcidin antimicrobial peptide 2 Neighboring gene upstream transcription factor 2, pseudogene 1 Neighboring gene upstream transcription factor 2 Neighboring gene lipolysis stimulated lipoprotein receptor

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (9)  1 citation
    • Endonuclease-mediated (4) 

    Pathways from PubChem

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hormone activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables iron ion transmembrane transporter inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables signaling receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cell surface receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to extracellular stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in defense response to Gram-negative bacterium ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in defense response to Gram-positive bacterium ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within defense response to bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within defense response to fungus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to fungus ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of establishment of localization in cell IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of inflammatory response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in intracellular iron ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular iron ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular iron ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of iron ion transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in killing of cells of another organism ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of macrophage activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in multicellular organismal-level iron ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within myeloid cell homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of bone resorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of inflammatory response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of intestinal absorption ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of ion transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of iron export across plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of iron ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within negative regulation of iron ion transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of iron ion transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell growth involved in cardiac muscle cell development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of macrophage activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of receptor catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of receptor internalization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to iron ion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical cortex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intercalated disc ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    hepcidin
    Names
    hepcidin antimicrobial peptide 1

    NCBI Reference Sequences (RefSeq)

    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_032541.2NP_115930.1  hepcidin preproprotein

      See identical proteins and their annotated locations for NP_115930.1

      Status: REVIEWED

      Source sequence(s)
      AF297664, BY448092
      Consensus CDS
      CCDS39895.1
      UniProtKB/Swiss-Prot
      Q9EQ21
      Related
      ENSMUSP00000055404.8, ENSMUST00000062620.9
      Conserved Domains (1) summary
      pfam06446
      Location:3283
      Hepcidin; Hepcidin

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      30641793..30643454 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)