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    HAMP hepcidin antimicrobial peptide [ Homo sapiens (human) ]

    Gene ID: 57817, updated on 15-Jun-2019

    Summary

    Official Symbol
    HAMPprovided by HGNC
    Official Full Name
    hepcidin antimicrobial peptideprovided by HGNC
    Primary source
    HGNC:HGNC:15598
    See related
    Ensembl:ENSG00000105697 MIM:606464
    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]
    Expression
    Biased expression in liver (RPKM 88.9) and heart (RPKM 10.6) See more
    Orthologs

    Genomic context

    See HAMP in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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 upstream transcription factor 2, c-fos interacting Neighboring gene HNF4 motif-containing MPRA enhancer 344 Neighboring gene myelin associated glycoprotein Neighboring gene CD22 molecule Neighboring gene microRNA 5196

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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 iron ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of transcription by RNA polymerase II 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
     
    signal transduction 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intercalated disc IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    hepcidin
    Names
    hepcidin preproprotein
    liver-expressed antimicrobial peptide 1
    putative liver tumor regressor

    NCBI Reference Sequences (RefSeq)

    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_011563.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_021175.4NP_066998.1  hepcidin preproprotein

      See identical proteins and their annotated locations for NP_066998.1

      Status: REVIEWED

      Source sequence(s)
      AF309489, AY358669
      Consensus CDS
      CCDS12454.1
      UniProtKB/Swiss-Prot
      P81172
      Related
      ENSP00000222304.2, ENST00000222304.5
      Conserved Domains (1) summary
      pfam06446
      Location:3384
      Hepcidin; Hepcidin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      35282528..35285143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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