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)[1] Band 6p22.2 Start 26,087,281 bp[1] End 26,098,343 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 A3.1|13 9.88 cM Start 23,886,017 bp[2] End 23,894,837 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 3077 15216 Ensembl ENSG00000010704 ENSMUSG00000006611 UniProt Q30201 P70387 RefSeq (mRNA) 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 RefSeq (protein) 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 Location (UCSC) Chr 6: 26.09 – 26.1 Mb Chr 13: 23.89 – 23.89 Mb PubMed search [3] [4]
Wikidata
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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]