HFE

Description		homeostatic iron regulator
Image
GO Annotations	Cellular Component	Extracellular Space Nucleoplasm Early Endosome Plasma Membrane External Side Of Plasma Membrane Membrane Cytoplasmic Vesicle MHC Class I Protein Complex Apical Part Of Cell Basal Part Of Cell Perinuclear Region Of Cytoplasm Recycling Endosome HFE-transferrin Receptor Complex
	Molecular Function	Signaling Receptor Binding Protein Binding Beta-2-microglobulin Binding Co-receptor Binding Peptide Antigen Binding Transporter Activator Activity Transferrin Receptor Binding
	Biological Process	Antigen Processing And Presentation Of Peptide Antigen Via MHC Class I Regulation Of T Cell Mediated Immunity Negative Regulation Of T Cell Cytokine Production Monoatomic Ion Transport Iron Ion Transport Intracellular Iron Ion Homeostasis Receptor-mediated Endocytosis Cell Surface Receptor Signaling Pathway Response To Iron Ion Positive Regulation Of Gene Expression Antigen Processing And Presentation BMP Signaling Pathway Negative Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Transferrin Transport Regulation Of Iron Ion Transport Hormone Biosynthetic Process Positive Regulation Of Receptor-mediated Endocytosis Positive Regulation Of SMAD Protein Signal Transduction Multicellular Organismal-level Iron Ion Homeostasis Protein-containing Complex Assembly Cellular Response To Iron Ion Positive Regulation Of Peptide Hormone Secretion Negative Regulation Of Antigen Processing And Presentation Of Endogenous Peptide Antigen Via MHC Class I Response To Iron Ion Starvation Regulation Of Protein Localization To Cell Surface Negative Regulation Of Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of CD8-positive, Alpha-beta T Cell Activation
Pathways		Transferrin endocytosis and recycling
Drugs
Diseases		Hemochromatosis (HFE); Juvenile hemochromatosis (JH)
GWAS		Alanine aminotransferase levels ( 34315874) Alcohol consumption (transferrin glycosylation) ( 21665994) Apolipoprotein A1 levels ( 32203549) Apolipoprotein B levels ( 32203549) Aspartate aminotransferase levels ( 34315874) Autism spectrum disorder or schizophrenia ( 28540026) Blood pressure ( 21909110) Brain morphology (MOSTest) ( 32665545) Cardiovascular disease risk factors ( 21943158) Cholesterol, total ( 20686565 24097068) Diastolic blood pressure ( 21909115 27618447 27618452 27841878 28739976) 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 34059833) HDL cholesterol levels ( 32203549) Hematocrit ( 19862010 27863252 28017375 32888494) Hematological parameters ( 19820697) Hematology traits ( 23263863) Hemoglobin ( 19820698 19862010 28453575 32888494) Hemoglobin concentration ( 27863252) Hemoglobin levels ( 28017375 32327693) Hepcidin levels ( 21785125) Hepcidin/ferritin ratio ( 27846281) High light scatter reticulocyte count ( 27863252 32888494) High light scatter reticulocyte percentage of red cells ( 27863252 32888494) Hip circumference adjusted for BMI ( 34021172) Hypertension ( 21909115) Intelligence (MTAG) ( 29326435) Iron status biomarkers ( 19084217 19820699 21149283 21208937 21483845 25224454) Iron status biomarkers (ferritin levels) ( 25352340 28334935 33536631) Iron status biomarkers (iron levels) ( 25352340 28334935 33536631) Iron status biomarkers (total iron binding capacity) ( 28334935 33536631) Iron status biomarkers (transferrin levels) ( 25352340) Iron status biomarkers (transferrin saturation) ( 25352340 28334935 33536631) LDL cholesterol ( 20686565 24097068) LDL cholesterol levels ( 32203549) Liver fibrosis and steatohepatitis severity (MRI cT1 measure) ( 32247823) Liver iron content ( 34128465) Low density lipoprotein cholesterol levels ( 32154731) Mean arterial pressure ( 27618448) Mean corpuscular hemoglobin ( 19853236 23263863 28017375 28453575 29403010 32888494) Mean corpuscular hemoglobin concentration ( 27863252 28017375 29403010 32888494) Mean corpuscular volume ( 19862010 20139978 28017375 32888494) 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 ( 27863252 32888494) Red blood cell count ( 27863252 32888494) Red blood cell traits ( 20927387 23222517 23446634) Red cell distribution width ( 28957414 32888494) Refractive error ( 32231278) Reticulocyte count ( 27863252 32888494) Reticulocyte fraction of red cells ( 27863252 32888494) Schizophrenia ( 30285260) Subcortical volume (MOSTest) ( 32665545) Systolic blood pressure ( 21909115 27618452 27841878 28739976) 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		4 interacting genes: B2M SNCA TFR2 TFRC
Entrez ID		3077
HPRD ID		01993
Ensembl ID		ENSG00000010704
Uniprot IDs		B4DV50 F8W7W8 H7C4K4 Q30201 Q6B0J5
PDB IDs		1A6Z 1DE4
Enriched GO Terms of Interacting Partners?		Response To Iron Ion HFE-transferrin Receptor Complex Transferrin Transport Multicellular Organismal-level Iron Ion Homeostasis Transferrin Receptor Activity Iron Ion Transport Response To Metal Ion Intracellular Iron Ion Homeostasis Multicellular Organismal-level Chemical Homeostasis Inorganic Ion Homeostasis Monoatomic Cation Homeostasis Monoatomic Ion Homeostasis Cellular Response To Iron Ion Positive Regulation Of Endocytosis Cellular Response To Metal Ion Receptor-mediated Endocytosis Chemical Homeostasis Amyloid Fibril Formation Positive Regulation Of Cellular Component Organization Regulation Of Endocytosis Response To Copper Ion Homeostatic Process External Side Of Plasma Membrane Hsp70 Protein Binding Intracellular Monoatomic Ion Homeostasis Intracellular Monoatomic Cation Homeostasis Endocytosis Multicellular Organismal-level Homeostasis Receptor Internalization Intracellular Chemical Homeostasis Regulation Of Vesicle-mediated Transport Metal Ion Transport Protein Tetramerization Import Into Cell Cellular Homeostasis Recycling Endosome Membrane Regulation Of Cell Activation Response To Desipramine Negative Regulation Of Norepinephrine Uptake Phospholipase D Inhibitor Activity Positive Regulation Of SNARE Complex Assembly Negative Regulation Of Dopamine Uptake Involved In Synaptic Transmission Endocytic Iron Import Into Cell Negative Regulation Of Cellular Component Organization Monoatomic Cation Transport Positive Regulation Of Adaptive Immune Response Based On Somatic Recombination Of Immune Receptors Built From Immunoglobulin Superfamily Domains Positive Regulation Of Lymphocyte Mediated Immunity Positive Regulation Of Adaptive Immune Response Response To Lipid Cellular Response To Iron(III) Ion
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