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    HAMP hepcidin antimicrobial peptide [ Homo sapiens (human) ]

    Gene ID: 57817, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:15598
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HAMP in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35282528..35285143)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37827196..37829811)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35773431..35776046)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372380 Neighboring gene lipolysis stimulated lipoprotein receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35753027-35753725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35761221-35761960 Neighboring gene HNF4 motif-containing MPRA enhancer 344 Neighboring gene upstream transcription factor 2, c-fos interacting Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35773293-35773802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14466 Neighboring gene myelin associated glycoprotein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35795633-35796520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35802349-35802850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35802851-35803350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14470 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:35824208-35824417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14472 Neighboring gene CD22 molecule Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35831571-35832072 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables copper ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables hormone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables iron ion transmembrane transporter inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transporter regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell surface receptor signaling pathway via JAK-STAT IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to Gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to fungus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to fungus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    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 iron ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in killing of cells of another organism IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in killing of cells of another organism IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in macrophage activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organismal-level iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in myeloid cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of intestinal absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of iron export across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of iron ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of macrophage activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of receptor catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to iron ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus 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)

    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.

    Genomic

    1. NG_011563.2 RefSeqGene

      Range
      5022..7637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_791

    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, Q1HE14, Q9BY68
      Related
      ENSP00000222304.2, ENST00000222304.5
      Conserved Domains (1) summary
      pfam06446
      Location:3384
      Hepcidin; Hepcidin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      37827196..37829811
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)