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Hfe homeostatic iron regulator [ Rattus norvegicus (Norway rat) ]

Gene ID: 29199, updated on 2-Nov-2024

Summary

Official Symbol
Hfeprovided by RGD
Official Full Name
homeostatic iron regulatorprovided by RGD
Primary source
RGD:2793
See related
EnsemblRapid:ENSRNOG00000016967 AllianceGenome:RGD:2793
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to enable beta-2-microglobulin binding activity; co-receptor binding activity; and transferrin receptor binding activity. Involved in several processes, including cellular response to iron ion starvation; liver regeneration; and multicellular organismal-level iron ion homeostasis. Located in apical part of cell and terminal web. 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, Nov 2024]
Expression
Biased expression in Liver (RPKM 165.0), Lung (RPKM 59.5) and 9 other tissues See more
Orthologs
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Genomic context

See Hfe in Genome Data Viewer
Location:
17p11
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 17 NC_086035.1 (41841302..41849359)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 17 NC_051352.1 (41413451..41421502)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 17 NC_005116.4 (43661276..43669327)

Chromosome 17 - NC_086035.1Genomic Context describing neighboring genes Neighboring gene histone H4C like 1 Neighboring gene H1.2 linker histone, cluster member Neighboring gene PC-esterase domain containing 1A, pseudogene 1 Neighboring gene histone cluster 1 H2B family member Q Neighboring gene H1.6 linker histone, cluster member Neighboring gene Histone cluster 1, H2an-like 1, pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

General gene information

Markers

Gene Ontology Provided by RGD

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
 
NOT enables peptide antigen 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 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 acute-phase response IEP
Inferred from Expression Pattern
more info
PubMed 
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
 
involved_in cellular response to iron ion starvation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in female pregnancy IEP
Inferred from Expression Pattern
more info
PubMed 
acts_upstream_of_or_within hormone biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in intracellular iron ion homeostasis ISO
Inferred from Sequence Orthology
more info
 
involved_in intracellular iron ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
involved_in iron ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in liver regeneration IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in multicellular organismal-level iron ion homeostasis IEP
Inferred from Expression Pattern
more info
PubMed 
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis ISO
Inferred from Sequence Orthology
more info
 
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 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 gene expression ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of peptide hormone secretion 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 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
 
involved_in response to iron ion starvation IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
part_of HFE-transferrin receptor complex ISO
Inferred from Sequence Orthology
more info
 
NOT part_of MHC class I protein complex ISO
Inferred from Sequence Orthology
more info
 
located_in apical part of cell IDA
Inferred from Direct Assay
more info
PubMed 
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
 
NOT located_in microvillus membrane IDA
Inferred from Direct Assay
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
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 IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
hereditary hemochromatosis protein homolog
Names
RT1-CAFE
hemochromatosis

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001173434.1NP_001166905.1  hereditary hemochromatosis protein homolog isoform 2 precursor

    See identical proteins and their annotated locations for NP_001166905.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    JAXUCZ010000017
    UniProtKB/TrEMBL
    A6KLM5, A6KLM8, F7EZL1, Q9R105
    Related
    ENSRNOP00000022881.4, ENSRNOT00000022881.8
    Conserved Domains (2) summary
    cl08246
    Location:40127
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:131223
    Ig; Immunoglobulin domain
  2. NM_001173435.1NP_001166906.1  hereditary hemochromatosis protein homolog isoform 3 precursor

    See identical proteins and their annotated locations for NP_001166906.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
    Source sequence(s)
    JAXUCZ010000017
    UniProtKB/TrEMBL
    A6KLM6, Q9R104
    Related
    ENSRNOP00000022809.5, ENSRNOT00000022809.8
    Conserved Domains (1) summary
    cl11960
    Location:31123
    Ig; Immunoglobulin domain
  3. NM_053301.4NP_445753.1  hereditary hemochromatosis protein homolog isoform 1 precursor

    See identical proteins and their annotated locations for NP_445753.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    JAXUCZ010000017
    UniProtKB/Swiss-Prot
    O35175, O35799
    UniProtKB/TrEMBL
    A6KLM4, A6KLM7
    Related
    ENSRNOP00000104711.1, ENSRNOT00000166102.1
    Conserved Domains (2) summary
    cl08246
    Location:31215
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:219311
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086035.1 Reference GRCr8

    Range
    41841302..41849359
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_063276285.1XP_063132355.1  hereditary hemochromatosis protein homolog isoform X1

    Related
    ENSRNOP00000101543.1, ENSRNOT00000130289.1