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

Summary

Official Symbol: Hfeprovided by RGD
Official Full Name: homeostatic iron regulatorprovided by RGD
Primary source: RGD:2793
See related: Ensembl: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 acute-phase response; liver regeneration; and response to starvation. Located in apical part of cell; plasma membrane; and terminal web. 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: Biased expression in Liver (RPKM 165.0), Lung (RPKM 59.5) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

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_086035.1 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HFE co-localised exclusively with the terminal web of intestinal enterocytes. HFE expression was increased in iron deficiency, consistent with a second regulatory role for HFE in iron absorption, independent of hepcidin from the liver.
Title: Haemochromatosis protein is expressed on the terminal web of enterocytes in proximal small intestine of the rat.
The finding of HFE gene expression in rat hepatocytes raises interesting questions regarding its role in the hepatocyte iron metabolism.
Title: Structure and liver cell expression pattern of the HFE gene in the rat.
HFE gene expression was localized mainly in hepatocytes.
Title: Localization of iron metabolism-related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytes.

Submit: New GeneRIF Correction

General gene information

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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 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 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

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Preferred Names: hereditary hemochromatosis protein homolog

Names: RT1-CAFE; 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_001173434.1 → NP_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

Conserved Domains (2) summary

cl08246
Location:40 → 127

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

cl11960
Location:131 → 223

Ig; Immunoglobulin domain
NM_001173435.1 → NP_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

Conserved Domains (1) summary

cl11960
Location:31 → 123

Ig; Immunoglobulin domain
NM_053301.4 → NP_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

ENSRNOP00000022809.4, ENSRNOT00000022809.7

Conserved Domains (2) summary

cl08246
Location:31 → 215

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

cl11960
Location:219 → 311

Ig; Immunoglobulin domain