HFE Gene Summary [Human]
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. [provided by RefSeq, May 2022]
Details
| Type | Protein Coding |
| Official Symbol | HFE |
| Official Name | homeostatic iron regulator [Source:HGNC Symbol;Acc:HGNC:4886] |
| Ensembl ID | ENSG00000010704 |
| Bio databases IDs | |
| Aliases | homeostatic iron regulator, high Fe |
| Synonyms | Hereditary haemochromatosis-like, Hereditary hemochromatosis-like, HFE1, HH, HLA-H, homeostatic iron regulator, MR2, MVCD7, TFQTL2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HFE often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Immunoglobulin C1-set domain
- Class I Histocompatibility antigen, domains alpha 1 and 2
- cytoplasmic domain
- alpha3 domain
- immunoglobulin domain
- transmembrane domain
- helix alphaI
- protein binding
- receptor binding
- transmembrane receptor
- beta-2-microglobulin binding
Pathways
Biological processes and signaling networks where the HFE gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- depressive disorder
- neoplasia
- weight gain
- Alzheimer disease
- osteoarthritis
- juvenile hemochromatosis
- organismal death
- COVID-19
- epithelial cancer
- hereditary disorder
role in cell
- expression in
- quantity
- proliferation
- apoptosis
- activation
- phosphorylation in
- binding in
- number
- molecular cleavage in
- oxidative stress response
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- Cytoplasm
- cell surface
- Extracellular Space
- intracellular space
- apical compartment
- basal compartment
- perinuclear region
- cellular membrane
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- basolateral cell surfaces
- terminal web
- membrane ruffles
- plasma membrane extracellular face
- apical membrane
- basolateral membrane
- endosomal membrane
- nucleoplasm
- recycling endosomes
- early endosomes
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HFE gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of protein binding
- multicellular organismal iron ion homeostasis
- positive regulation of peptide hormone secretion
- cellular response to iron ion
- antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent
- cellular iron ion homeostasis
- BMP signaling pathway
- response to iron ion
- antigen processing and presentation
- positive regulation of SMAD protein import into nucleus
- positive regulation of receptor-mediated endocytosis
- negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
- negative regulation of CD8-positive, alpha-beta T cell activation
- macromolecular complex assembly
- positive regulation of receptor activity
- positive regulation of receptor binding
- negative regulation of receptor activity
- negative regulation of receptor binding
- antigen processing and presentation of peptide antigen via MHC class I
- hormone biosynthetic process
- antigen processing and presentation of endogenous peptide antigen via MHC class Ib
- regulation of protein localization at cell surface
- negative regulation of T cell cytokine production
- positive regulation of gene expression
- iron ion transport
- positive regulation of T cell mediated cytotoxicity
- regulation of iron ion transport
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- early endosome
- extracellular space
- perinuclear region of cytoplasm
- apical part of cell
- basal part of cell
- external side of plasma membrane
- cytoplasmic vesicle
- recycling endosome
- plasma membrane
- MHC class I protein complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- peptide antigen binding
- beta-2-microglobulin binding
- receptor binding