HAMP hepcidin antimicrobial peptide [Homo sapiens (human)] - Gene

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: mouse all

Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

iron homoeostasis by hepcidin can serve as one of the crucial determinants for regulating immune cell signalling
Title: Hepcidin mediated iron homoeostasis as immune regulator in visceral leishmaniasis patients.
For urothelial carcinoma of the upper urinary tract and renal cell carcinoma, serum hepcidin levels as well as serum GDF-15 levels were increased compared to sera of controls. High serum hepcidin and GDF-15 levels were associated with metastases and cancer relapse. Also, in both entities, the overall survival was decreased in patients with increased serum hepcidin and GDF-15 levels.
Title: Serum Hepcidin and GDF-15 levels as prognostic markers in urothelial carcinoma of the upper urinary tract and renal cell carcinoma.
Studied iron metabolism in polycythemia vera and essential thrombocytosis using serum levels of hepcidin, GDF15, and mitoferrin-1.
Title: The role of hepcidin, GDF15, and mitoferrin-1 in iron metabolism of polycythemia vera and essential thrombocytosis patients
Histone deacetylase3 was found to modulate the binding of CCAAT-enhancer-binding protein alpha (C/EBPalpha), hypoxia-inducible factor 1alpha (HIF1alpha), and signal transducer and activator of transcription 3 (STAT3) to the LEAP-1 promoter.
Title: Histone Deacetylase 3 Inhibitor Suppresses Hepatitis C Virus Replication by Regulating Apo-A1 and LEAP-1 Expression.
The analysis of results demonstrated that values of interleukin 6, hepcidin-25, prohepcidin can be applied as additional diagnostic criteria of anemic syndrome and especially in differentiated diagnostic of anemia of chronic disease with functional iron deficiency
Title: [The main metabolites of ferrokinetics in differentiated diagnostic of anemic syndrome].
Serum hepcidin is a pathogenic factor of anemia in ANCA-associated vasculitis and can be used as an additional marker in active forms of the disease.
Title: Serum hepcidin is increased in ANCA-associated vasculitis and correlates with activity markers.
We also identified an association between hepcidin and HDL3-C at baseline, which indicates that the HDL3-C level may reflect the change in cholesterol efflux from peripheral arteries and partly explain the relationship between hepcidin and the change of arterial stiffness
Title: The association between Hepcidin and arterial stiffness in a community-dwelling population.
These findings suggest that serum hepcidin may be a uremic toxin and play an important role in erythropoietin resistance. However, future prospective studies are needed to confirm our results
Title: Serum hepcidin may be a novel uremic toxin, which might be related to erythropoietin resistance.
serum hepcidin level has a role in iron status in children with cystic fibrosis
Title: Serum Hepcidin Level as a Marker of Iron Status in Children with Cystic Fibrosis.
Hepcidin is lower in more severely anemic children with sickle cell disease independent of inflammation or markers of erythropoiesis.
Title: Decreased Hepcidin Levels Are Associated with Low Steady-state Hemoglobin in Children With Sickle Cell Disease in Tanzania.

Submit: New GeneRIF Correction See all GeneRIFs (386)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hemochromatosis type 2B MedGen: C1865616 OMIM: 613313 GeneReviews: Juvenile Hereditary Hemochromatosis	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Hfe effect on hepcidin production, organism-specific biosystem (from WikiPathways)
Hfe effect on hepcidin production, organism-specific biosystemnew pathway, converted from mouse WP3673
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...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

G35510 (e-PCR)
- UniSTS:44150

D11S3114 (e-PCR)
- UniSTS:152207

GDB:631802 (e-PCR)
- UniSTS:158429

Homology

Homologs of the HAMP gene: The HAMP gene is conserved in chimpanzee, Rhesus monkey, dog, and cow.
Orthologs from Annotation Pipeline: 170 organisms have orthologs with human gene HAMP
Orthologs

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

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Preferred Names: hepcidin

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

NCBI Reference Sequences (RefSeq)

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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.