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; 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: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35282528..35285143)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (37827196..37829811)
105.20220307	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?

A functional interplay between the two BMP-SMAD pathway inhibitors TMPRSS6 and FKBP12 regulates hepcidin expression in vivo.
Title: A functional interplay between the two BMP-SMAD pathway inhibitors TMPRSS6 and FKBP12 regulates hepcidin expression in vivo.
Interplay between gut microbiota and the master iron regulator, hepcidin, in the pathogenesis of liver fibrosis.
Title: Interplay between gut microbiota and the master iron regulator, hepcidin, in the pathogenesis of liver fibrosis.
Elevated Hepcidin Expression in Human Carotid Atheroma: Sex-Specific Differences and Associations with Plaque Vulnerability.
Title: Elevated Hepcidin Expression in Human Carotid Atheroma: Sex-Specific Differences and Associations with Plaque Vulnerability.
Circ_0004913 Inhibits Cell Growth, Metastasis, and Glycolysis by Absorbing miR-184 to Regulate HAMP in Hepatocellular Carcinoma.
Title: Circ_0004913 Inhibits Cell Growth, Metastasis, and Glycolysis by Absorbing miR-184 to Regulate HAMP in Hepatocellular Carcinoma.
Hepcidin as a key regulator of iron homeostasis triggers inflammatory features in the normal endometrium.
Title: Hepcidin as a key regulator of iron homeostasis triggers inflammatory features in the normal endometrium.
Evaluation of the relationship between idiopathic restless legs syndrome and serum hepcidin levels.
Title: Evaluation of the relationship between idiopathic restless legs syndrome and serum hepcidin levels.
The Ferritin, Hepcidin and Cytokines Link in the Diagnoses of Iron Deficiency Anaemia during Pregnancy: A Review.
Title: The Ferritin, Hepcidin and Cytokines Link in the Diagnoses of Iron Deficiency Anaemia during Pregnancy: A Review.
Role of hepcidin upregulation and proteolytic cleavage of ferroportin 1 in hepatitis C virus-induced iron accumulation.
Title: Role of hepcidin upregulation and proteolytic cleavage of ferroportin 1 in hepatitis C virus-induced iron accumulation.
Oxidative stress and hepcidin expression in pediatric sickle cell anemia with iron overload.
Title: Oxidative stress and hepcidin expression in pediatric sickle cell anemia with iron overload.
CORRELATION BETWEEN HEPCIDIN AND PROCALCITONIN AND THEIR DIAGNOSTIC ROLE IN PATIENTS WITH COVID-19.
Title: CORRELATION BETWEEN HEPCIDIN AND PROCALCITONIN AND THEIR DIAGNOSTIC ROLE IN PATIENTS WITH COVID-19.

Submit: New GeneRIF Correction See all GeneRIFs (454)

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

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 cell surface receptor signaling pathway via JAK-STAT	IEA Inferred from Electronic Annotation more info
involved_in defense response to bacterium	IBA Inferred from Biological aspect of Ancestor more info
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	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 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 protein catabolic process	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 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 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
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.