Hfe homeostatic iron regulator [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hfeprovided by MGI
Official Full Name: homeostatic iron regulatorprovided by MGI
Primary source: MGI:MGI:109191
See related: Ensembl:ENSMUSG00000006611 AllianceGenome:MGI:109191
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MR2
Summary: Enables transferrin receptor binding activity. Involved in positive regulation of gene expression. Acts upstream of or within hormone biosynthetic process and multicellular organismal iron ion homeostasis. Part of HFE-transferrin receptor complex. Is expressed in brain; choroid invagination; diencephalon roof plate; medulla oblongata part of 4th ventricle choroid plexus; and metencephalon part of 4th ventricle choroid plexus. Used to study hemochromatosis type 1. Human ortholog(s) of this gene implicated in several diseases, including acute porphyria (multiple); arthritis (multiple); bone marrow cancer (multiple); hemochromatosis (multiple); and liver disease (multiple). Orthologous to human HFE (homeostatic iron regulator). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in subcutaneous fat pad adult (RPKM 24.7), liver adult (RPKM 10.9) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A3.1; 13 9.88 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (23886017..23894837, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (23702034..23710854, complement)

Chromosome 13 - NC_000079.7 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
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?

Common Mutation in the HFE Gene Modifies Recovery After Intracerebral Hemorrhage.
Title: Common Mutation in the HFE Gene Modifies Recovery After Intracerebral Hemorrhage.
Hfe Actions in Kupffer Cells Are Dispensable for Hepatic and Systemic Iron Metabolism.
Title: Hfe Actions in Kupffer Cells Are Dispensable for Hepatic and Systemic Iron Metabolism.
Regulation of iron homeostasis by hepatocyte TfR1 requires HFE and contributes to hepcidin suppression in beta-thalassemia.
Title: Regulation of iron homeostasis by hepatocyte TfR1 requires HFE and contributes to hepcidin suppression in β-thalassemia.
In vivo adenine base editing reverts C282Y and improves iron metabolism in hemochromatosis mice.
Title: In vivo adenine base editing reverts C282Y and improves iron metabolism in hemochromatosis mice.
Iron accumulation is associated with periodontal destruction in a mouse model of HFE-related haemochromatosis.
Title: Iron accumulation is associated with periodontal destruction in a mouse model of HFE-related haemochromatosis.
HFE inhibits type I IFNs signaling by targeting the SQSTM1-mediated MAVS autophagic degradation.
Title: HFE inhibits type I IFNs signaling by targeting the SQSTM1-mediated MAVS autophagic degradation.
HFE and ALK3 act in the same signaling pathway.
Title: HFE and ALK3 act in the same signaling pathway.
Modulation of sulfur assimilation metabolic toxicity overcomes anemia and hemochromatosis in mice.
Title: Modulation of sulfur assimilation metabolic toxicity overcomes anemia and hemochromatosis in mice.
Cell-specific expression of <i>Hfe</i> determines the outcome of <i>Salmonella enterica</i> serovar Typhimurium infection in mice.
Title: Cell-specific expression of Hfe determines the outcome of Salmonella enterica serovar Typhimurium infection in mice.
The haemochromatosis gene Hfe and Kupffer cells control LDL cholesterol homeostasis and impact on atherosclerosis development.
Title: The haemochromatosis gene Hfe and Kupffer cells control LDL cholesterol homeostasis and impact on atherosclerosis development.

Submit: New GeneRIF Correction See all GeneRIFs (79)

Variation

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Alleles

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

Targeted (11) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC315447P1 (e-PCR)
- UniSTS:272955

NoName (e-PCR)
- UniSTS:491324

PMC23944P1 (e-PCR)
- UniSTS:272214

U66849 (e-PCR)
- UniSTS:163531

RH142147 (e-PCR)
- UniSTS:231411

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-2-microglobulin binding	ISO Inferred from Sequence Orthology more info
enables co-receptor binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables transferrin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables transferrin receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables transferrin receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent	IBA Inferred from Biological aspect of Ancestor more info
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class Ib	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to iron ion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hormone biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within iron ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
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
involved_in negative regulation of CD8-positive, alpha-beta T cell activation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of T cell cytokine production	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of receptor binding	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of signaling receptor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of T cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ferrous iron binding	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptide hormone secretion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein binding	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor binding	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of signaling receptor activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transferrin receptor binding	ISO Inferred from Sequence Orthology more info
involved_in regulation of iron ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of iron ion transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein localization to cell surface	ISO Inferred from Sequence Orthology more info
involved_in response to iron ion	ISO Inferred from Sequence Orthology more info
involved_in response to iron ion starvation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of HFE-transferrin receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of HFE-transferrin receptor complex	ISO Inferred from Sequence Orthology more info
located_in apical part of cell	ISO Inferred from Sequence Orthology more info
located_in basal part of cell	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	ISO Inferred from Sequence Orthology more info
located_in terminal web	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: hereditary hemochromatosis protein homolog

Names: hemochromatosis

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.

mRNA and Protein(s)

NM_001347493.1 → NP_001334422.1 hereditary hemochromatosis protein homolog isoform b precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.

Source sequence(s)

AK150697, AL592149, BE995172, BY198206

Consensus CDS

CCDS84012.1

UniProtKB/TrEMBL

Q5SZ87

Related

ENSMUSP00000089299.7, ENSMUST00000091707.13
NM_010424.5 → NP_034554.2 hereditary hemochromatosis protein homolog isoform a precursor

See identical proteins and their annotated locations for NP_034554.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AK150697, AL592149, BY198206

Consensus CDS

CCDS26360.1

UniProtKB/Swiss-Prot

P70387, Q14AQ5, Q5SZ90, Q9D754

UniProtKB/TrEMBL

Q8C2A6

Related

ENSMUSP00000089298.7, ENSMUST00000091706.14

Conserved Domains (2) summary

cl08246
Location:31 → 214

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

cl11960
Location:218 → 310

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

23886017..23894837 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006516556.4 → XP_006516619.1 hereditary hemochromatosis protein homolog isoform X1

See identical proteins and their annotated locations for XP_006516619.1

UniProtKB/TrEMBL

Q8C2A6

Conserved Domains (2) summary

cl08246
Location:4 → 176

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

cl11960
Location:180 → 272

Ig; Immunoglobulin domain