SLC40A1

Description		solute carrier family 40 member 1
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GO Annotations	Cellular Component	Nucleoplasm Cytoplasm Cytosol Plasma Membrane Synaptic Vesicle Membrane Basolateral Plasma Membrane
	Molecular Function	Iron Ion Transmembrane Transporter Activity Protein Binding Ferrous Iron Transmembrane Transporter Activity Peptide Hormone Binding Identical Protein Binding Metal Ion Binding
	Biological Process	Lymphocyte Homeostasis Endothelium Development Transcription By RNA Polymerase II Monoatomic Ion Transport Iron Ion Transport Intracellular Iron Ion Homeostasis Apoptotic Process Iron Ion Transmembrane Transport Negative Regulation Of Apoptotic Process Positive Regulation Of Transcription By RNA Polymerase II Spleen Development Establishment Of Localization In Cell Transmembrane Transport Spleen Trabecula Formation Multicellular Organismal-level Iron Ion Homeostasis Iron Ion Export Across Plasma Membrane
Pathways		Metal ion SLC transporters Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) Defective CP causes aceruloplasminemia (ACERULOP) Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) Iron uptake and transport
Drugs
Diseases		Hemochromatosis (HFE); Juvenile hemochromatosis (JH)
GWAS		Bone fracture in osteoporosis ( 28580392) Hematocrit ( 32888494) Iron status biomarkers (ferritin levels) ( 25352340 33536631) Iron status biomarkers (total iron binding capacity) ( 28334935 33536631) Iron status biomarkers (transferrin levels) ( 25352340) Iron status biomarkers (transferrin saturation) ( 28334935) Liver iron content ( 34128465) Mean corpuscular hemoglobin ( 27863252 32888494) Mean corpuscular hemoglobin concentration ( 27863252) Red blood cell count ( 27863252) Red cell distribution width ( 32888494) Restless legs syndrome ( 33239738)
Novel Interacting Genes		1 novel interacting genes: NAT8
Interacting Genes		3 interacting genes: GOLM1 HAMP SLC22A2
Entrez ID		30061
HPRD ID		05229
Ensembl ID		ENSG00000138449
Uniprot IDs		Q9NP59
PDB IDs		6W4S 6WBV 8BZY 8C02 8C03 8DL6 8DL7 8DL8
Enriched GO Terms of Interacting Partners?		Acetylcholine Transport Histamine Uptake Pyrimidine Nucleoside Transmembrane Transporter Activity Export Across Plasma Membrane Epinephrine Transport Spermidine Transmembrane Transport Putrescine Transport Amine Transmembrane Transporter Activity Spermidine Transmembrane Transporter Activity L-arginine Import Across Plasma Membrane Putrescine Transmembrane Transporter Activity Acetylcholine Transmembrane Transporter Activity Peptidyl-lysine N6-acetylation L-cysteine-S-conjugate N-acetyltransferase Activity Negative Regulation Of Iron Export Across Plasma Membrane Negative Regulation Of Iron Ion Transmembrane Transport Iron Ion Transmembrane Transporter Inhibitor Activity Negative Regulation Of Intestinal Absorption Negative Regulation Of Iron Ion Transport Iron Ion Export Across Plasma Membrane Transporter Regulator Activity Spermidine Transport Thiamine Transmembrane Transporter Activity Thiamine Transport Quaternary Ammonium Group Transmembrane Transporter Activity Thiamine Transmembrane Transport Norepinephrine Uptake Xenobiotic Transport Across Blood-brain Barrier L-lysine N-acetyltransferase Activity, Acting On Acetyl Phosphate As Donor Regulation Of Iron Ion Transport Toxin Transmembrane Transporter Activity Choline Transmembrane Transporter Activity Polyamine Transmembrane Transport Serotonin Uptake Choline Transport Prostaglandin Transmembrane Transporter Activity Monoamine Transmembrane Transporter Activity Norepinephrine Transport Histamine Transport L-arginine Transmembrane Transporter Activity Internal Peptidyl-lysine Acetylation Positive Regulation Of Receptor Catabolic Process Organic Cation Transmembrane Transporter Activity Efflux Transmembrane Transporter Activity L-arginine Transmembrane Transport Amine Transport Catecholamine Uptake Dopamine Uptake Internal Protein Amino Acid Acetylation Azole Transmembrane Transport
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