======= HFE ======= == Gene Information == * **Official Symbol**: HFE * **Official Name**: homeostatic iron regulator * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3077|3077]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q30201|Q30201]] * **Interactions**: [[https://thebiogrid.org/search.php?search=HFE&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HFE|Open PubMed]] * **OMIM**: [[https://omim.org/entry/613609|Open OMIM]] == Function Summary == * **Entrez Summary**: 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. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. * **UniProt Summary**: N/A |C1-set| |MHC I| |cellular response to iron ion starvation| |negative regulation of T cell antigen processing and presentation| |regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I| |iron ion import across plasma membrane| |negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I| |regulation of antigen processing and presentation of peptide antigen via MHC class I| |regulation of T cell antigen processing and presentation| |negative regulation of antigen processing and presentation of peptide antigen via MHC class I| |positive regulation of ferrous iron binding| |regulation of transferrin receptor binding| |positive regulation of transferrin receptor binding| |regulation of ferrous iron binding| |terminal web| |response to iron ion starvation| |negative regulation of antigen processing and presentation of peptide antigen| |iron import into cell| |negative regulation of CD8-positive, alpha-beta T cell activation| |regulation of antigen processing and presentation of peptide antigen| |regulation of iron ion transport| |transferrin receptor binding| |HFE-transferrin receptor complex| |beta-2-microglobulin binding| |multicellular organismal iron ion homeostasis| |negative regulation of antigen processing and presentation| |negative regulation of T cell cytokine production| |positive regulation of receptor binding| |MHC class I protein complex| |cellular response to iron ion| |negative regulation of receptor binding| |co-receptor binding| |basal part of cell| |iron ion transmembrane transport| |regulation of CD8-positive, alpha-beta T cell activation| |negative regulation of T cell mediated immunity| |regulation of antigen processing and presentation| |regulation of receptor binding| |negative regulation of cytokine production involved in immune response| |liver regeneration| |regulation of T cell cytokine production| |response to iron ion| |peptide antigen binding| |positive regulation of signaling receptor activity| |negative regulation of production of molecular mediator of immune response| |negative regulation of proteasomal ubiquitin-dependent protein catabolic process| |transferrin transport| |regulation of protein localization to cell surface| |negative regulation of alpha-beta T cell activation| |negative regulation of lymphocyte mediated immunity| |negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains| |acute-phase response| |negative regulation of adaptive immune response| |positive regulation of pathway-restricted SMAD protein phosphorylation| |negative regulation of ubiquitin-dependent protein catabolic process| |negative regulation of leukocyte mediated immunity| |positive regulation of receptor-mediated endocytosis| |negative regulation of proteasomal protein catabolic process| |negative regulation of signaling receptor activity| |hormone biosynthetic process| |regulation of pathway-restricted SMAD protein phosphorylation| |cellular iron ion homeostasis| |acute inflammatory response| |regulation of T cell mediated immunity| |apical part of cell| |iron ion transport| |negative regulation of proteolysis involved in cellular protein catabolic process| |animal organ regeneration| |inorganic cation import across plasma membrane| |inorganic ion import across plasma membrane| |iron ion homeostasis| |regulation of cytokine production involved in immune response| |negative regulation of cellular protein catabolic process| |BMP signaling pathway| |regulation of alpha-beta T cell activation| |positive regulation of protein binding| |positive regulation of peptide hormone secretion| |import across plasma membrane| |antigen processing and presentation of peptide antigen via MHC class I| |regulation of receptor-mediated endocytosis| |positive regulation of endocytosis| |negative regulation of protein binding| |positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway| |cellular response to BMP stimulus| |response to BMP| |cellular transition metal ion homeostasis| |negative regulation of T cell activation| |recycling endosome| |negative regulation of immune effector process| |transition metal ion transport| |negative regulation of leukocyte cell-cell adhesion| |regulation of proteasomal ubiquitin-dependent protein catabolic process| |liver development| |positive regulation of hormone secretion| |hepaticobiliary system development| |transition metal ion homeostasis| |negative regulation of protein catabolic process| |regulation of production of molecular mediator of immune response| |negative regulation of lymphocyte activation| |regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains| |negative regulation of immune response| |regulation of lymphocyte mediated immunity| |cellular response to starvation| |regulation of ubiquitin-dependent protein catabolic process| |regeneration| |regulation of adaptive immune response| |negative regulation of binding| |regulation of signaling receptor activity| |negative regulation of leukocyte activation| |negative regulation of cell-cell adhesion| |positive regulation of binding| |female pregnancy| |regulation of proteasomal protein catabolic process| |antigen processing and presentation of peptide antigen| |cellular response to metal ion| |response to starvation| |negative regulation of cell activation| |transmembrane receptor protein serine/threonine kinase signaling pathway| |hormone metabolic process| |regulation of leukocyte mediated immunity| |regulation of endocytosis| |regulation of peptide hormone secretion| |multi-multicellular organism process| |regulation of proteolysis involved in cellular protein catabolic process| |antigen processing and presentation| |regulation of protein binding| |cellular response to inorganic substance| |cellular response to nutrient levels| |regulation of transmembrane receptor protein serine/threonine kinase signaling pathway| |regulation of cellular protein catabolic process| |negative regulation of cellular catabolic process| |cytoplasmic vesicle| |early endosome| |cellular response to extracellular stimulus| |regulation of hormone secretion| |negative regulation of cell adhesion| |negative regulation of cytokine production| |positive regulation of peptide secretion| |regulation of leukocyte cell-cell adhesion| |negative regulation of catabolic process| |regulation of T cell activation| |multicellular organismal homeostasis| |cellular response to external stimulus| |signaling receptor binding| |negative regulation of proteolysis| |response to metal ion| |regulation of binding| |regulation of protein catabolic process| |regulation of metal ion transport| |external side of plasma membrane| |regulation of cell-cell adhesion| |positive regulation of secretion by cell| |gland development| |positive regulation of secretion| |negative regulation of immune system process| |regulation of immune effector process| |regulation of peptide secretion| |response to nutrient levels| |inflammatory response| |cellular response to growth factor stimulus| |regulation of lymphocyte activation| |response to growth factor| |response to extracellular stimulus| |response to inorganic substance| |regulation of hormone levels| |regulation of cellular protein localization| |regulation of vesicle-mediated transport| |cellular metal ion homeostasis| |inorganic cation transmembrane transport| |regulation of leukocyte activation| |cation transmembrane transport| |metal ion homeostasis| |cellular cation homeostasis| |metal ion transport| |regulation of cell activation| |cellular ion homeostasis| |inorganic ion transmembrane transport| |import into cell| |regulation of cell adhesion| |regulation of cytokine production| |perinuclear region of cytoplasm| |regulation of ion transport| |cation homeostasis| |enzyme linked receptor protein signaling pathway| |inorganic ion homeostasis| |regulation of proteolysis| |regulation of peptide transport| |cellular chemical homeostasis| |regulation of secretion by cell| |ion homeostasis| |regulation of secretion| |cation transport| |regulation of cellular catabolic process| |cellular homeostasis| |regulation of cellular localization| |ion transmembrane transport| |positive regulation of transport| |multi-organism reproductive process| |regulation of catabolic process| |positive regulation of protein phosphorylation| |regulation of protein localization| |negative regulation of cellular protein metabolic process| |positive regulation of phosphorylation| |negative regulation of protein metabolic process| |chemical homeostasis| |positive regulation of phosphate metabolic process| |positive regulation of phosphorus metabolic process| |negative regulation of molecular function| |regulation of immune response| |negative regulation of multicellular organismal process| |positive regulation of cellular component organization| |cellular response to endogenous stimulus| |positive regulation of protein modification process| |transmembrane transport| |defense response| |ion transport| |integral component of plasma membrane| |reproductive process| |reproduction| |regulation of protein phosphorylation| |response to endogenous stimulus| |protein transport| |peptide transport| |protein-containing complex assembly| |amide transport| |regulation of phosphorylation| |extracellular space| |positive regulation of cellular protein metabolic process| |establishment of protein localization| |negative regulation of response to stimulus| |homeostatic process| |positive regulation of signal transduction| |regulation of immune system process| |cellular response to stress| |positive regulation of protein metabolic process| |positive regulation of molecular function| |regulation of phosphate metabolic process| |regulation of phosphorus metabolic process| |positive regulation of cell communication| |positive regulation of signaling| |establishment of localization in cell| |nitrogen compound transport| |regulation of protein modification process| |protein-containing complex subunit organization| |regulation of transport| |positive regulation of gene expression| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp128|GSK591 2.6μM R03 exp128]]|1.82| ^Gene^Correlation^ |[[:human genes:r:rrm1|RRM1]]|0.419| Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 17174 * **Expression level (log2 read counts)**: 3.89 {{:chemogenomics:nalm6 dist.png?nolink |}}