HFE (gene)

HFE
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1DE4, 1A6Z
Identifiers
Aliases	HFE, HFE1, HH, HLA-H, MVCD7, TFQTL2, HFE gene, hemochromatosis, homeostatic iron regulator
External IDs	OMIM: 613609; MGI: 109191; HomoloGene: 88330; GeneCards: HFE; OMA:HFE - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	26,098,343 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	23,894,837 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; Epithelium of choroid plexus; ; monocyte; ; right adrenal cortex; ; smooth muscle tissue; ; cervix epithelium; ; seminal vesicula; ; left adrenal gland; ; Achilles tendon; ; gallbladder;
	Top expressed in
	Epithelium of choroid plexus; ; stroma of bone marrow; ; epithelium of lens; ; left lobe of liver; ; choroid plexus of fourth ventricle; ; white adipose tissue; ; right ventricle; ; carotid body; ; myocardium of ventricle; ; triceps brachii muscle;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	peptide antigen binding; beta-2-microglobulin binding; co-receptor binding; protein binding; transferrin receptor binding; signaling receptor binding; natural killer cell lectin-like receptor binding;
Cellular component	integral component of membrane; recycling endosome; HFE-transferrin receptor complex; membrane; basal part of cell; plasma membrane; apical part of cell; integral component of plasma membrane; terminal web; early endosome; MHC class I protein complex; perinuclear region of cytoplasm; cytoplasmic vesicle; external side of plasma membrane; extracellular space;
Biological process	negative regulation of T cell antigen processing and presentation; positive regulation of peptide hormone secretion; positive regulation of receptor-mediated endocytosis; cellular response to iron ion; antigen processing and presentation; negative regulation of receptor binding; regulation of protein localization to cell surface; antigen processing and presentation of peptide antigen via MHC class I; female pregnancy; positive regulation of pathway-restricted SMAD protein phosphorylation; response to iron ion starvation; iron ion homeostasis; negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I; ion transport; BMP signaling pathway; cellular response to iron ion starvation; response to iron ion; multicellular organismal iron ion homeostasis; positive regulation of ferrous iron binding; positive regulation of transferrin receptor binding; positive regulation of signaling receptor activity; liver regeneration; positive regulation of gene expression; negative regulation of T cell cytokine production; acute-phase response; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of ubiquitin-dependent protein catabolic process; positive regulation of receptor binding; negative regulation of signaling receptor activity; positive regulation of protein binding; hormone biosynthetic process; negative regulation of CD8-positive, alpha-beta T cell activation; cellular iron ion homeostasis; iron ion import across plasma membrane; transferrin transport; protein-containing complex assembly; T cell mediated cytotoxicity; immune response; natural killer cell activation; natural killer cell mediated cytotoxicity; susceptibility to natural killer cell mediated cytotoxicity; regulation of iron ion transport;
	Sources:Amigo / QuickGO
Orthologs
	3077
	15216
	ENSG00000010704
	ENSMUSG00000006611
	Q30201
	P70387
NM_000410; NM_001300749; NM_139002; NM_139003; NM_139004;
	NM_139005; NM_139006; NM_139007; NM_139008; NM_139009; NM_139010; NM_139011; NM_001384164
	NM_010424; NM_001347493
NP_000401; NP_001287678; NP_620572; NP_620573; NP_620575;
	NP_620576; NP_620577; NP_620578; NP_620579; NP_620580; NP_001371093
	NP_001334422; NP_034554
	Wikidata
View/Edit Human	View/Edit Mouse

Human homeostatic iron regulator protein, also known as the HFE protein (High FE2+), is a transmembrane protein that in humans is encoded by the HFE gene. The HFE gene is located on short arm of chromosome 6 at location 6p22.2 ^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000010704 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000006611 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "HGNC: HFE". Retrieved 30 August 2019.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000010704 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000006611 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] "HGNC: HFE". Retrieved 30 August 2019.

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