SLC4A1 and BLOC1S6

Data Source:
HPRD (in vitro)

		SLC4A1	BLOC1S6
Description		solute carrier family 4 member 1 (Diego blood group)	biogenesis of lysosomal organelles complex 1 subunit 6
Image			No pdb structure
GO Annotations	Cellular Component	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	Cytoplasm Cytosol Extrinsic Component Of Membrane Transport Vesicle BLOC-1 Complex SNARE Complex Presynapse Axon Cytoplasm
	Molecular Function	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	Protein Binding Syntaxin Binding Identical Protein Binding Protein Homodimerization Activity Actin Filament Binding
	Biological Process	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	Anterograde Axonal Transport Synaptic Vesicle Docking Neuron Projection Development Melanosome Transport Melanosome Organization Endosome To Melanosome Transport Intracellular Transport Anterograde Synaptic Vesicle Transport Positive Regulation Of Pigment Cell Differentiation
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)	Golgi Associated Vesicle Biogenesis
Drugs
Diseases		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		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		17 interacting genes: ACTC1 ADAM33 ANK1 BLOC1S6 BMP10 CA2 CA4 CANX CDKN2A CFHR5 EPB41 EPB42 LYN RHAG SLC4A1AP SYK TMEM60	49 interacting genes: ABI2 AGGF1 ANK1 APP BLOC1S1 BLOC1S2 BLOC1S4 C4orf46 CCDC136 CCDC22 CCHCR1 CCR2 CDK5R1 CEP44 CORO6 DCTN2 DTNBP1 EPS8 EXOC8 HAUS1 IFT20 INSYN1 KRT13 KRT72 LURAP1 MED21 MLPH NDC80 NDN NTAQ1 NUP62 OLFM2 PLEKHA5 PLEKHF2 RABGEF1 RINT1 SKA1 SLC4A1 SMN1 SMN2 SNAPIN STX11 STX12 STX1A SYCE3 TPM1 TPM3 TRAK1 WASHC3
Entrez ID		6521	26258
HPRD ID		00175	16055
Ensembl ID		ENSG00000004939	ENSG00000104164
Uniprot IDs		P02730	B3KY40 H3BST1 Q9UL45
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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