EPB41 and SLC4A1

Data Source:
HPRD (in vitro)

		EPB41	SLC4A1
Description		erythrocyte membrane protein band 4.1	solute carrier family 4 member 1 (Diego blood group)
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GO Annotations	Cellular Component	Cytosol Cytoskeleton Plasma Membrane Cytoplasmic Side Of Plasma Membrane Postsynaptic Density Spectrin-associated Cytoskeleton Basolateral Plasma Membrane Nuclear Body Cell Junction Cortical Cytoskeleton Protein-containing Complex Intercellular Bridge Mitotic Spindle Cell Cortex Region	Plasma Membrane Integral Component Of Plasma Membrane Cytoplasmic Side Of Plasma Membrane Integral Component Of Membrane Basolateral Plasma Membrane Z Disc Cortical Cytoskeleton Extracellular Exosome Blood Microparticle
	Molecular Function	Actin Binding Structural Constituent Of Cytoskeleton Protein Binding Calmodulin Binding 1-phosphatidylinositol Binding Protein C-terminus Binding Spectrin Binding Protein N-terminus Binding Phosphoprotein Binding	Inorganic Anion Exchanger Activity Protein Binding Anion Transmembrane Transporter Activity Bicarbonate Transmembrane Transporter Activity Chloride Transmembrane Transporter Activity Anion:anion Antiporter Activity Transmembrane Transporter Activity Hemoglobin Binding Ankyrin Binding Protein Homodimerization Activity Protein-membrane Adaptor Activity
	Biological Process	Cell Cycle Regulation Of Cell Shape Actin Cytoskeleton Organization Cortical Actin Cytoskeleton Organization Actomyosin Structure Organization Positive Regulation Of Protein Binding Cell Division Regulation Of Calcium Ion Transport Protein-containing Complex Assembly Regulation Of Intestinal Absorption Positive Regulation Of Protein Localization To Cell Cortex	Anion Transport Chloride Transport Cellular Ion Homeostasis Blood Coagulation Bicarbonate Transport Plasma Membrane Phospholipid Scrambling Negative Regulation Of Urine Volume PH Elevation Erythrocyte Development Ion Homeostasis Negative Regulation Of Oxidoreductase Activity Regulation Of Intracellular PH Transmembrane Transport Protein Localization To Plasma Membrane Chloride Transmembrane Transport Negative Regulation Of Glycolytic Process Through Fructose-6-phosphate
Pathways		Neurexins and neuroligins	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)
Drugs
Diseases		Hereditary elliptocytosis (HE)	Hereditary elliptocytosis (HE) Hereditary spherocytosis (SPH) Hereditary stomatocytosis (HSt); Dehydrated hereditary stomatocytosis (DHS); Overhydrated hereditary stomatocytosis (OHS); Familial pseudohyperkalemia (FP) Distal renal tubular acidosis (RTA type 1)
GWAS		Amyotrophic lateral sclerosis (sporadic) ( 24529757) Hemoglobin levels ( 32327693) High light scatter reticulocyte count ( 32888494) High light scatter reticulocyte percentage of red cells ( 32888494) Mean corpuscular hemoglobin concentration ( 32888494) Mean reticulocyte volume ( 32888494) Mean spheric corpuscular volume ( 32888494) Platelet distribution width ( 32888494) Reticulocyte count ( 32888494) Reticulocyte fraction of red cells ( 32888494) Tourette syndrome ( 30818990)	Bipolar disorder ( 31043756) Hemoglobin ( 32888494) Hemoglobin concentration ( 27863252) Hemoglobin levels ( 32327693) High light scatter reticulocyte count ( 32888494) High light scatter reticulocyte percentage of red cells ( 32888494) Immature fraction of reticulocytes ( 32888494 27863252) Lymphocyte counts ( 32888494) Lymphocyte percentage of white cells ( 32888494) Mean corpuscular hemoglobin ( 32888494 27863252) Mean corpuscular hemoglobin concentration ( 29403010 32888494 27863252) Mean reticulocyte volume ( 32888494) Mean spheric corpuscular volume ( 32888494) Monocyte count ( 32888494) Neutrophil percentage of white cells ( 32888494) Obesity-related traits ( 23251661) Red cell distribution width ( 32888494 27863252 28957414) Reticulocyte count ( 32888494 27863252) Reticulocyte fraction of red cells ( 32888494 27863252) Urate levels ( 31578528)
Interacting Genes		39 interacting genes: ACTA1 APP BCAM C2CD2L CASK CD44 CENPJ CLNS1A CRYAB DLG1 DRD2 DRD3 EGFR EIF3G EPB42 FKBP2 GDI1 GYPC KPNA2 MACROD1 MYL1 NPPA NUMA1 PRKCB RWDD2B SEC14L1 SLC4A1 SMAD3 SPTAN1 SPTB SPTBN1 TJP2 TPM1 TUBA4A U2AF1 U2AF2 YWHAB YWHAQ ZCCHC10	17 interacting genes: ACTC1 ADAM33 ANK1 BLOC1S6 BMP10 CA2 CA4 CANX CDKN2A CFHR5 EPB41 EPB42 LYN RHAG SLC4A1AP SYK TMEM60
Entrez ID		2035	6521
HPRD ID		00558	00175
Ensembl ID		ENSG00000159023	ENSG00000004939
Uniprot IDs		A0A2R8Y7Y3 P11171 Q1WWM3 Q29RX4 Q59F12	P02730
PDB IDs		1GG3 2RQ1 3QIJ	1BH7 1BNX 1BTQ 1BTR 1BTS 1BTT 1BZK 1HYN 2BTA 2BTB 3BTB 4KY9 4YZF
Enriched GO Terms of Interacting Partners?
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