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    HAMP hepcidin antimicrobial peptide [ Homo sapiens (human) ]

    Gene ID: 57817, updated on 22-Sep-2016
    Official Symbol
    HAMPprovided by HGNC
    Official Full Name
    hepcidin antimicrobial peptideprovided by HGNC
    Primary source
    HGNC:HGNC:15598
    See related
    Ensembl:ENSG00000105697 HPRD:05925; MIM:606464; Vega:OTTHUMG00000183295
    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
    HEPC; PLTR; HFE2B; LEAP1
    Summary
    The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]
    Orthologs
    Location:
    19q13.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (35282346..35285143)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35773410..35776046)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372380 Neighboring gene lipolysis stimulated lipoprotein receptor Neighboring gene upstream transcription factor 2, c-fos interacting Neighboring gene myelin associated glycoprotein Neighboring gene CD22 molecule Neighboring gene microRNA 5196

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Iron metabolism in placenta, organism-specific biosystem (from WikiPathways)
      Iron metabolism in placenta, organism-specific biosystemDuring pregnancy, iron is transported from mother to fetus across the placenta. Iron is essential for many biological processes, including the transfer of oxygen in blood, but it can also be toxic. E...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    cellular iron ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to X-ray IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to bile acid IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to interleukin-6 IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    defense response to fungus IEA
    Inferred from Electronic Annotation
    more info
     
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    killing of cells of other organism IEA
    Inferred from Electronic Annotation
    more info
     
    liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organismal iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of intestinal absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell growth involved in cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    response to erythropoietin IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to iron ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to iron ion starvation IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin A IEA
    Inferred from Electronic Annotation
    more info
     
    response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical cortex IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    intercalated disc IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    hepcidin
    Names
    liver-expressed antimicrobial peptide 1
    putative liver tumor regressor

    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_011563.1 RefSeqGene

      Range
      4840..7637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021175.3NP_066998.1  hepcidin preproprotein

      See identical proteins and their annotated locations for NP_066998.1

      Status: REVIEWED

      Source sequence(s)
      AD000684, AF309489, AY358669, BP306149
      Consensus CDS
      CCDS12454.1
      UniProtKB/Swiss-Prot
      P81172
      Related
      ENSP00000222304, OTTHUMP00000271383, ENST00000222304, OTTHUMT00000466068
      Conserved Domains (1) summary
      pfam06446
      Location:3384
      Hepcidin; Hepcidin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      35282346..35285143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      35774869..35777667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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