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HAMP hepcidin antimicrobial peptide [ Homo sapiens (human) ]

Gene ID: 57817, updated on 17-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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35282528..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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