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

Gene ID: 15216, updated on 4-Jan-2025

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 negative regulation of proteasomal ubiquitin-dependent protein catabolic process and positive regulation of gene expression. Acts upstream of or within hormone biosynthetic process and multicellular organismal-level 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 arthritis (multiple); bone marrow cancer (multiple); hemochromatosis (multiple); liver disease (multiple); and microcytic anemia (multiple). Orthologous to human HFE (homeostatic iron regulator). [provided by Alliance of Genome Resources, Jan 2025]
Expression
Broad expression in subcutaneous fat pad adult (RPKM 24.7), liver adult (RPKM 10.9) and 19 other tissues See more
Orthologs
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Genomic context

See Hfe in Genome Data Viewer
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_000079.7Genomic Context describing neighboring genes Neighboring gene H1.6 linker histone, cluster member Neighboring gene STARR-positive B cell enhancer ABC_E7215 Neighboring gene H4 clustered histone 3 Neighboring gene STARR-seq mESC enhancer starr_33970 Neighboring gene Hist1h1cR1 erythroid cis-regulatory module Neighboring gene family with sequence similarity 113, member A pseudogene Neighboring gene STARR-seq mESC enhancer starr_33971 Neighboring gene H1.2 linker histone, cluster member

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4) 
  • Targeted (11)  1 citation

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC151121, MGC151123

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables beta-2-microglobulin binding  
enables beta-2-microglobulin binding  
enables co-receptor binding  
enables co-receptor binding  
enables signaling receptor binding  
enables transferrin receptor binding  
enables transferrin receptor binding PubMed 
enables transferrin receptor binding  
Items 1 - 25 of 44
Process Evidence Code Pubs
involved_in BMP signaling pathway  
involved_in BMP signaling pathway  
involved_in acute-phase response  
involved_in cellular response to iron ion  
involved_in cellular response to iron ion  
involved_in cellular response to iron ion starvation  
involved_in female pregnancy  
acts_upstream_of_or_within hormone biosynthetic process PubMed 
involved_in intracellular iron ion homeostasis  
involved_in iron ion transport  
involved_in liver regeneration  
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis PubMed 
involved_in multicellular organismal-level iron ion homeostasis  
involved_in negative regulation of CD8-positive, alpha-beta T cell activation  
involved_in negative regulation of CD8-positive, alpha-beta T cell activation  
involved_in negative regulation of T cell cytokine production  
involved_in negative regulation of T cell cytokine production  
involved_in negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I  
involved_in negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I  
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process PubMed 
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process  
involved_in negative regulation of receptor binding  
involved_in negative regulation of signaling receptor activity  
involved_in negative regulation of ubiquitin-dependent protein catabolic process  
involved_in positive regulation of SMAD protein signal transduction  
involved_in positive regulation of SMAD protein signal transduction  
involved_in positive regulation of ferrous iron binding  
involved_in positive regulation of gene expression PubMed 
involved_in positive regulation of peptide hormone secretion  
involved_in positive regulation of peptide hormone secretion  
involved_in positive regulation of protein binding  
involved_in positive regulation of receptor binding  
involved_in positive regulation of receptor-mediated endocytosis  
involved_in positive regulation of receptor-mediated endocytosis  
involved_in positive regulation of signaling receptor activity  
involved_in positive regulation of transferrin receptor binding  
involved_in regulation of iron ion transport  
involved_in regulation of iron ion transport  
involved_in regulation of iron ion transport  
involved_in regulation of protein localization to cell surface  
involved_in regulation of protein localization to cell surface  
involved_in response to iron ion  
involved_in response to iron ion starvation  
involved_in response to iron ion starvation  
Items 1 - 25 of 44
Items 1 - 20 of 24
Component Evidence Code Pubs
part_of HFE-transferrin receptor complex PubMed 
part_of HFE-transferrin receptor complex  
located_in apical part of cell  
located_in apical part of cell  
located_in basal part of cell  
located_in basal part of cell  
located_in cytoplasmic vesicle  
located_in early endosome  
located_in early endosome  
is_active_in external side of plasma membrane  
located_in external side of plasma membrane  
located_in external side of plasma membrane  
is_active_in extracellular space  
located_in extracellular space  
located_in extracellular space  
located_in nucleoplasm  
located_in nucleoplasm  
located_in perinuclear region of cytoplasm  
located_in perinuclear region of cytoplasm  
located_in plasma membrane  
located_in recycling endosome  
located_in recycling endosome  
located_in terminal web  
located_in terminal web  
Items 1 - 20 of 24

General protein information

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)

  1. NM_001347493.1NP_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
  2. NM_010424.5NP_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:31214
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:218310
    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

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    23886017..23894837 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006516556.4XP_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:4176
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:180272
    Ig; Immunoglobulin domain
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