Hamp hepcidin antimicrobial peptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hampprovided by MGI
Official Full Name: hepcidin antimicrobial peptideprovided by MGI
Primary source: MGI:MGI:1933533
See related: Ensembl:ENSMUSG00000050440 AllianceGenome:MGI:1933533
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hepc; Hamp1; Hepc1
Summary: This gene encodes hepcidin, an antimicrobial peptide and master hormonal regulator of systemic iron metabolism. The encoded preproprotein is synthesized in the hepatocytes where it undergoes proteolytic processing to generate disulfide-linked mature peptides that are secreted into the bloodstream. Mice lacking the encoded protein develop multivisceral iron overlaod, with sparing of the spleen macrophages. Certain mutations in the human ortholog of this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis. This gene is located adjacent to a related hepcidin gene on chromosome 7. [provided by RefSeq, Aug 2016]
Expression: Restricted expression toward liver adult (RPKM 2321.3) See more
Orthologs: human all
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Genomic context

Location:: 7 B1; 7 19.27 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (30641793..30643454, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (30942368..30944029, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hepcidin deficiency impairs hippocampal neurogenesis and mediates brain atrophy and memory decline in mice.
Title: Hepcidin deficiency impairs hippocampal neurogenesis and mediates brain atrophy and memory decline in mice.
A Decrease in Maternal Iron Levels Is the Predominant Factor Suppressing Hepcidin during Pregnancy in Mice.
Title: A Decrease in Maternal Iron Levels Is the Predominant Factor Suppressing Hepcidin during Pregnancy in Mice.
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.
Hepcidin deficiency in mice impairs white adipose tissue browning possibly due to a defect in de novo adipogenesis.
Title: Hepcidin deficiency in mice impairs white adipose tissue browning possibly due to a defect in de novo adipogenesis.
Bone-derived C-terminal FGF23 cleaved peptides increase iron availability in acute inflammation.
Title: Bone-derived C-terminal FGF23 cleaved peptides increase iron availability in acute inflammation.
Intracellular labile iron is a key regulator of hepcidin expression and iron metabolism.
Title: Intracellular labile iron is a key regulator of hepcidin expression and iron metabolism.
Genetic Iron Overload Hampers Development of Cutaneous Leishmaniasis in Mice.
Title: Genetic Iron Overload Hampers Development of Cutaneous Leishmaniasis in Mice.
Hepcidin regulates neuronal ferroptosis: A mechanism for postoperative cognitive dysfunction.
Title: Hepcidin regulates neuronal ferroptosis: A mechanism for postoperative cognitive dysfunction.
Astrocyte-derived hepcidin controls iron traffic at the blood-brain-barrier via regulating ferroportin 1 of microvascular endothelial cells.
Title: Astrocyte-derived hepcidin controls iron traffic at the blood-brain-barrier via regulating ferroportin 1 of microvascular endothelial cells.
Investigating the Molecular Mechanisms of Renal Hepcidin Induction and Protection upon Hemoglobin-Induced Acute Kidney Injury.
Title: Investigating the Molecular Mechanisms of Renal Hepcidin Induction and Protection upon Hemoglobin-Induced Acute Kidney Injury.

Submit: New GeneRIF Correction See all GeneRIFs (187)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (9) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables copper ion binding	IDA Inferred from Direct Assay more info	PubMed
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables hormone activity	ISO Inferred from Sequence Orthology more info
enables iron ion transmembrane transporter inhibitor activity	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables transporter regulator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell surface receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-negative bacterium	ISO Inferred from Sequence Orthology more info
involved_in defense response to Gram-positive bacterium	ISO Inferred from Sequence Orthology more info
involved_in defense response to bacterium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within defense response to bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within defense response to fungus	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to fungus	ISO Inferred from Sequence Orthology more info
acts_upstream_of establishment of localization in cell	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of inflammatory response	IGI Inferred from Genetic Interaction more info	PubMed
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 intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of iron ion transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in killing of cells of another organism	ISO Inferred from Sequence Orthology more info
acts_upstream_of macrophage activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multicellular organismal-level iron ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myeloid cell homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of bone resorption	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of inflammatory response	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of intestinal absorption	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of intestinal absorption	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of iron export across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of iron export across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of iron ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of iron ion transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of iron ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth involved in cardiac muscle cell development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of macrophage activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein polyubiquitination	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor internalization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to iron ion	IEA Inferred from Electronic Annotation more info
involved_in response to iron ion	ISO Inferred from Sequence Orthology more info
acts_upstream_of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in apical cortex	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: hepcidin

Names: hepcidin antimicrobial peptide 1

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.