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
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Genomic context

Location:: 19q13.12

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	19	NC_000019.10 (35282528..35285143)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (35773431..35776046)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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 Functions

What's a GeneRIF?

Hepcidin-induced reduction in iron content and PGC-1beta expression negatively regulates osteoclast differentiation to play a protective role in postmenopausal osteoporosis.
Title: Hepcidin-induced reduction in iron content and PGC-1β expression negatively regulates osteoclast differentiation to play a protective role in postmenopausal osteoporosis.
Prognostic associations of plasma hepcidin in women with early breast cancer.
Title: Prognostic associations of plasma hepcidin in women with early breast cancer.
Hepcidin Upregulation in Lung Cancer: A Potential Therapeutic Target Associated With Immune Infiltration.
Title: Hepcidin Upregulation in Lung Cancer: A Potential Therapeutic Target Associated With Immune Infiltration.
Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management.
Title: Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management.
Disordered serum erythroferrone and hepcidin levels as indicators of the spontaneous abortion occurrence during early pregnancy in humans.
Title: Disordered serum erythroferrone and hepcidin levels as indicators of the spontaneous abortion occurrence during early pregnancy in humans.
The role of iron in viral infections.
Title: The role of iron in viral infections.
Relation of hepcidin gene expression in blood mononuclear cells with iron overload severity among beta-thalassemia major patients.
Title: Relation of hepcidin gene expression in blood mononuclear cells with iron overload severity among β-thalassemia major patients.
Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan.
Title: Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan.
Partial sleep deprivation after an acute exercise session does not augment hepcidin levels the following day.
Title: Partial sleep deprivation after an acute exercise session does not augment hepcidin levels the following day.
Iron Availability in Tissue Microenvironment: The Key Role of Ferroportin.
Title: Iron Availability in Tissue Microenvironment: The Key Role of Ferroportin.

Submit: New GeneRIF Correction See all GeneRIFs (424)

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 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)

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: 300 organisms have orthologs with human gene HAMP
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper ion binding	IEA Inferred from Electronic Annotation more info
enables hormone activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in acute-phase response	IEA Inferred from Electronic Annotation more info
involved_in aging	IEA Inferred from Electronic Annotation more info
involved_in cellular iron ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cellular iron ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to X-ray	IEA Inferred from Electronic Annotation more info
involved_in cellular response to bile acid	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interleukin-6	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in defense response to bacterium	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in defense response to fungus	IEA Inferred from Electronic Annotation more info
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in killing of cells of other organism	IEA Inferred from Electronic Annotation more info
involved_in liver regeneration	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal 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 ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell growth involved in cardiac muscle cell development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cellular protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of macrophage activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in receptor signaling pathway via JAK-STAT	IEA Inferred from Electronic Annotation more info
involved_in response to erythropoietin	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to iron ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to iron ion starvation	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin A	IEA Inferred from Electronic Annotation more info
involved_in response to zinc ion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical cortex	IEA Inferred from Electronic Annotation more info
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	PubMed
located_in intercalated disc	IEA Inferred from Electronic Annotation more info
located_in nucleus	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.