EPB42 and SLC4A1

Data Source:
BioGRID (unspecified method)

		EPB42	SLC4A1
Description		erythrocyte membrane protein band 4.2	solute carrier family 4 member 1 (Diego blood group)
Image		No pdb structure
GO Annotations	Cellular Component	Cytoskeleton Plasma Membrane Cortical Cytoskeleton	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	Protein-glutamine Gamma-glutamyltransferase Activity Structural Constituent Of Cytoskeleton Protein Binding ATP 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 Morphogenesis Cytoskeleton Organization Regulation Of Cell Shape Peptide Cross-linking Protein Phosphopantetheinylation Hemoglobin Metabolic Process Erythrocyte Maturation Spleen Development Iron Ion Homeostasis	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			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 spherocytosis (SPH)	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		Apolipoprotein A1 levels ( 32203549) HDL cholesterol levels ( 32203549) Mean spheric corpuscular volume ( 32888494)	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		13 interacting genes: ANK1 ANK2 BLOC1S4 CD47 DMTN EPB41 KRAS MAPK14 SLC4A1 SLC4A2 SPINK7 SPTAN1 STX12	17 interacting genes: ACTC1 ADAM33 ANK1 BLOC1S6 BMP10 CA2 CA4 CANX CDKN2A CFHR5 EPB41 EPB42 LYN RHAG SLC4A1AP SYK TMEM60
Entrez ID		2038	6521
HPRD ID		01517	00175
Ensembl ID		ENSG00000166947	ENSG00000004939
Uniprot IDs		P16452	P02730
PDB IDs			1BH7 1BNX 1BTQ 1BTR 1BTS 1BTT 1BZK 1HYN 2BTA 2BTB 3BTB 4KY9 4YZF
Enriched GO Terms of Interacting Partners?
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