HFE (gene)

HFE (gene)

Identifiers Symbols HFE; HFE1; HH; HLA-H; MVCD7; TFQTL2 External IDs OMIM: 613609 MGI: 109191 HomoloGene: 88330 GeneCards: HFE Gene

Gene Ontology
Molecular function	• protein binding
Cellular component	• cytoplasm • early endosome • plasma membrane • integral to plasma membrane • cytoplasmic vesicle • MHC class I protein complex • apical part of cell • basal part of cell • perinuclear region of cytoplasm • recycling endosome
Biological process	• antigen processing and presentation of peptide antigen via MHC class I • protein complex assembly • iron ion transport • cellular iron ion homeostasis • receptor-mediated endocytosis • immune response • female pregnancy • cellular response to iron ion starvation • hormone biosynthetic process • multicellular organismal iron ion homeostasis
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 3077 15216 Ensembl ENSG00000010704 ENSMUSG00000006611 UniProt Q30201 P70387 RefSeq (mRNA) NM_000410.3 NM_010424.4 RefSeq (protein) NP_000401.1 NP_034554.2 Location (UCSC) Chr 6:
26.09 – 26.1 Mb Chr 13:
23.7 – 23.71 Mb PubMed search

Human hemochromatosis protein also known as the HFE protein is a protein which in humans is encoded by the HFE gene. The HFE gene is located on short arm of chromosome 6 at location 6p21.3. Unusually, the official gene symbol (HFE for High Iron Fe) is not an abbreviation of the official name (hemochromatosis).