SLC4A1

Description		solute carrier family 4 member 1 (Diego blood group)
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GO Annotations	Cellular Component	Cytoplasm Plasma Membrane Cytoplasmic Side Of Plasma Membrane Membrane Basolateral Plasma Membrane Z Disc Cortical Cytoskeleton Extracellular Exosome Blood Microparticle Ankyrin-1 Complex
	Molecular Function	Solute:inorganic Anion Antiporter Activity Protein Binding Cytoskeletal Protein Binding Monoatomic Anion Transmembrane Transporter Activity Bicarbonate Transmembrane Transporter Activity Chloride Transmembrane Transporter Activity Antiporter Activity Hemoglobin Binding Ankyrin Binding Protein Homodimerization Activity Protein-membrane Adaptor Activity Chloride:bicarbonate Antiporter Activity
	Biological Process	Monoatomic Ion Transport Monoatomic Anion Transport Chloride Transport Intracellular Monoatomic Ion Homeostasis Blood Coagulation Bicarbonate Transport Plasma Membrane Phospholipid Scrambling Negative Regulation Of Urine Volume PH Elevation Erythrocyte Development Regulation Of Intracellular PH Transmembrane Transport Protein Localization To Plasma Membrane Chloride Transmembrane Transport Negative Regulation Of Glycolytic Process Through Fructose-6-phosphate
Pathways		Erythrocytes take up carbon dioxide and release oxygen Erythrocytes take up oxygen and release carbon dioxide Bicarbonate transporters Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
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Diseases		Hereditary stomatocytosis (HSt); Dehydrated hereditary stomatocytosis (DHS); Overhydrated hereditary stomatocytosis (OHS); Familial pseudohyperkalemia (FP) Distal renal tubular acidosis (RTA type 1) Hereditary spherocytosis (SPH) Hereditary elliptocytosis (HE)
GWAS		Appendicular lean mass ( 33097823) Bipolar disorder ( 31043756) Hemoglobin ( 32888494) Hemoglobin concentration ( 27863252) Hemoglobin levels ( 32327693) hemolysis of donated blood (osmotic) ( 34014839) High light scatter reticulocyte count ( 32888494) High light scatter reticulocyte percentage of red cells ( 32888494) Immature fraction of reticulocytes ( 27863252 32888494) Lymphocyte count ( 32888494) Lymphocyte percentage of white cells ( 32888494) Mean corpuscular hemoglobin ( 27863252 32888494) Mean corpuscular hemoglobin concentration ( 29403010 27863252 32888494) Mean reticulocyte volume ( 32888494) Mean spheric corpuscular volume ( 32888494) Neutrophil percentage of white cells ( 32888494) Obesity-related traits ( 23251661) Red cell distribution width ( 27863252 28957414 32888494) Reticulocyte count ( 32888494 27863252) Reticulocyte fraction of red cells ( 32888494 27863252) Urate levels ( 31578528)
Novel Interacting Genes		1 novel interacting genes: ZBTB14
Interacting Genes		17 interacting genes: ACTC1 ADAM33 ANK1 BLOC1S6 BMP10 CA2 CA4 CANX CDKN2A CFHR5 EPB41 EPB42 LYN RHAG SLC4A1AP SYK TMEM60
Entrez ID		6521
HPRD ID		00175
Ensembl ID		ENSG00000004939
Uniprot IDs		P02730
PDB IDs		1BH7 1BNX 1BTQ 1BTR 1BTS 1BTT 1BZK 1HYN 2BTA 2BTB 3BTB 4KY9 4YZF 7TVZ 7TW0 7TW1 7TW2 7TW3 7TW5 7TW6 7TY4 7TY6 7TY7 7TY8 7TYA 7UZ3 7UZU 7UZV 7V07 7V0K 7V0M 7V0T 7V0U 7V0Y 7V19 8CRQ 8CRR 8CRT 8CS9 8CSL 8CSV 8CSY 8CT3 8CTE 8T3R 8T3U 8T44 8T45 8T47 8T6U 8T6V
Enriched GO Terms of Interacting Partners?		Ankyrin-1 Complex Secretion Secretion By Cell Spectrin-associated Cytoskeleton Carbonate Dehydratase Activity Carbon Dioxide Transport Actomyosin Structure Organization Structural Constituent Of Cytoskeleton Bicarbonate Transport Negative Regulation Of B Cell Proliferation Fc-gamma Receptor Signaling Pathway Involved In Phagocytosis Stimulatory C-type Lectin Receptor Signaling Pathway Fc Receptor Mediated Stimulatory Signaling Pathway Cellular Response To Lectin Fc-epsilon Receptor Signaling Pathway One-carbon Compound Transport Regulation Of B Cell Activation Multicellular Organismal-level Iron Ion Homeostasis Spectrin Binding Cortical Cytoskeleton Positive Regulation Of Leukocyte Apoptotic Process Regulation Of Platelet Aggregation Regulation Of Mast Cell Degranulation Negative Regulation Of Inflammatory Response To Antigenic Stimulus Negative Regulation Of B Cell Activation Negative Regulation Of Protein Serine/threonine Kinase Activity Fc-gamma Receptor Signaling Pathway Kidney Development Phosphoprotein Binding Protein-containing Complex Ligase Inhibitor Activity Non-membrane Spanning Protein Tyrosine Kinase Activity Methylammonium Transmembrane Transporter Activity Interleukin-15 Receptor Binding Positive Regulation Of Interleukin-3 Production Bradykinin Biosynthetic Process Circadian Sleep/wake Cycle Exocytosis Regulation Of Cell Adhesion Mediated By Integrin Peptidyl-tyrosine Phosphorylation Multicellular Organismal-level Homeostasis B Cell Receptor Signaling Pathway Regulation Of Platelet Activation Cell Surface Pattern Recognition Receptor Signaling Pathway Homeostatic Process Chemical Homeostasis Fc Receptor Signaling Pathway Cardiac Muscle Tissue Morphogenesis Basolateral Plasma Membrane Positive Regulation Of Dipeptide Transmembrane Transport
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