HFE
Gene Information
- Official Symbol: HFE
- Official Name: homeostatic iron regulator
- Aliases and Previous Symbols: N/A
- Entrez ID: 3077
- UniProt: Q30201
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: 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
Pfam Domains GO Terms
Pfam Domains
| C1-set |
| MHC I |
GO Terms
| 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
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
| Screen | Score |
|---|---|
| GSK591 2.6μM R03 exp128 | 1.82 |
Most Correlated Genes in Chemogenomics
| Gene | Correlation |
|---|---|
| RRM1 | 0.419 |
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
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
Expression Distribution
HFE Expression in NALM6 Cells: 3.89
