HFE

Description		homeostatic iron regulator
Image
GO Annotations	Cellular Component	Extracellular Space Nucleoplasm Early Endosome Plasma Membrane Integral Component Of Plasma Membrane External Side Of Plasma Membrane Cytoplasmic Vesicle MHC Class I Protein Complex Apical Part Of Cell Basal Part Of Cell Perinuclear Region Of Cytoplasm Recycling Endosome Terminal Web HFE-transferrin Receptor Complex
	Molecular Function	Signaling Receptor Binding Protein Binding Beta-2-microglobulin Binding Co-receptor Binding Peptide Antigen Binding Transferrin Receptor Binding
	Biological Process	Antigen Processing And Presentation Of Peptide Antigen Via MHC Class I Negative Regulation Of T Cell Antigen Processing And Presentation Negative Regulation Of T Cell Cytokine Production Cellular Iron Ion Homeostasis Acute-phase Response Female Pregnancy Response To Iron Ion Cellular Response To Iron Ion Starvation Positive Regulation Of Gene Expression Positive Regulation Of Pathway-restricted SMAD Protein Phosphorylation Antigen Processing And Presentation BMP Signaling Pathway Positive Regulation Of Protein Binding Negative Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Transferrin Transport Regulation Of Iron Ion Transport Positive Regulation Of Receptor-mediated Endocytosis Iron Ion Homeostasis Protein-containing Complex Assembly Cellular Response To Iron Ion Positive Regulation Of Peptide Hormone Secretion Liver Regeneration Iron Ion Import Across Plasma Membrane Negative Regulation Of Receptor Binding Positive Regulation Of Receptor Binding Negative Regulation Of Antigen Processing And Presentation Of Endogenous Peptide Antigen Via MHC Class I Positive Regulation Of Ferrous Iron Binding Positive Regulation Of Transferrin Receptor Binding Response To Iron Ion Starvation Regulation Of Protein Localization To Cell Surface Negative Regulation Of Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Signaling Receptor Activity Positive Regulation Of Signaling Receptor Activity Negative Regulation Of CD8-positive, Alpha-beta T Cell Activation
Pathways		Transferrin endocytosis and recycling
Drugs
Diseases		Hemochromatosis (HFE); Juvenile hemochromatosis (JH)
GWAS		Alcohol consumption (transferrin glycosylation) ( 21665994) Apolipoprotein A1 levels ( 32203549) Apolipoprotein B levels ( 32203549) Autism spectrum disorder or schizophrenia ( 28540026) Blood pressure ( 21909110) Brain morphology (MOSTest) ( 32665545) Cardiovascular disease risk factors ( 21943158) Cholesterol, total ( 24097068 20686565) Diastolic blood pressure ( 27841878 21909115 28739976 27618447 27618452) Diastolic blood pressure (cigarette smoking interaction) ( 29455858) Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) ( 29455858) Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) ( 29455858) Estimated glomerular filtration rate in non-diabetics ( 31451708) Feeling guilty ( 29500382) Fish- and plant-related diet ( 32066663) Glycated hemoglobin levels ( 20858683 28898252) HDL cholesterol levels ( 32203549) Hematocrit ( 32888494 27863252 28017375 19862010) Hematological parameters ( 19820697) Hematology traits ( 23263863) Hemoglobin ( 19820698 32888494 28453575 19862010) Hemoglobin concentration ( 27863252) Hemoglobin levels ( 32327693 28017375) Hepcidin levels ( 21785125) Hepcidin/ferritin ratio ( 27846281) High light scatter reticulocyte count ( 32888494 27863252) High light scatter reticulocyte percentage of red cells ( 32888494 27863252) Hypertension ( 21909115) Intelligence (MTAG) ( 29326435) Iron status biomarkers ( 25224454 21483845 21149283 21208937 19820699 19084217) Iron status biomarkers (ferritin levels) ( 28334935 25352340) Iron status biomarkers (iron levels) ( 28334935 25352340) Iron status biomarkers (total iron binding capacity) ( 28334935) Iron status biomarkers (transferrin levels) ( 25352340) Iron status biomarkers (transferrin saturation) ( 28334935 25352340) LDL cholesterol ( 24097068 20686565) LDL cholesterol levels ( 32203549) Liver fibrosis and steatohepatitis severity (MRI cT1 measure) ( 32247823) Low density lipoprotein cholesterol levels ( 32154731) Mean arterial pressure ( 27618448) Mean corpuscular hemoglobin ( 23263863 29403010 32888494 19853236 28453575 28017375) Mean corpuscular hemoglobin concentration ( 29403010 32888494 27863252 28017375) Mean corpuscular volume ( 32888494 20139978 28017375 19862010) Mean spheric corpuscular volume ( 32888494) Medication use (agents acting on the renin-angiotensin system) ( 31015401) Number of sexual partners ( 30643258) Osteoarthritis (hip) ( 30374069) Platelet count ( 32888494 27863252) Red blood cell count ( 32888494 27863252) Red blood cell traits ( 23446634 20927387 23222517) Red cell distribution width ( 32888494 28957414) Refractive error ( 32231278) Reticulocyte count ( 32888494 27863252) Reticulocyte fraction of red cells ( 32888494 27863252) Schizophrenia ( 30285260) Subcortical volume (MOSTest) ( 32665545) Systolic blood pressure ( 27841878 21909115 28739976 27618452) Systolic blood pressure (cigarette smoking interaction) ( 29455858) Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) ( 29455858) Systolic blood pressure x smoking status (ever vs never) interaction (2df test) ( 29455858) Worry too long after an embarrassing experience ( 29500382)
Interacting Genes		3 interacting genes: B2M TFR2 TFRC
Entrez ID		3077
HPRD ID		01993
Ensembl ID		ENSG00000010704
Uniprot IDs		B4DV50 F8W7W8 Q30201
PDB IDs		1A6Z 1C42 1DE4
Enriched GO Terms of Interacting Partners?
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