SLC4A1 and BLOC1S6

Number of citations: 0 (PubMedID 2968981)
Data Source: HPRD (in vitro)

		SLC4A1	BLOC1S6
Name		solute carrier family 4 member 1 (Diego blood group)	biogenesis of lysosomal organelles complex 1 subunit 6
Structure			No pdb structure
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	Stress Fiber Ruffle Cytoplasm Endosome Cytosol Focal Adhesion Membrane Transport Vesicle BLOC-1 Complex Cytoplasmic Vesicle Filamentous Actin Cell-cell Contact Zone Contractile Ring Presynapse Axon Cytoplasm Microvesicle
	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	Protein Binding Syntaxin Binding Identical Protein Binding Protein Homodimerization Activity Actin Filament Binding Molecular Adaptor 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	Kidney Development Bradykinin Biosynthetic Process Respiratory System Process Endothelium Development Amino Acid Metabolic Process Glutamate Metabolic Process Glutamine Metabolic Process Protein Targeting Lipid Metabolic Process Phospholipid Metabolic Process Blood Coagulation Memory Anterograde Axonal Transport Protein Secretion Response To Xenobiotic Stimulus Gene Expression Response To Activity Synaptic Vesicle Docking Dentate Gyrus Development Hypothalamus Development Melanocyte Differentiation Lung Development Neuron Projection Development Melanosome Transport Melanosome Organization Positive Regulation Of Natural Killer Cell Activation Secretion Of Lysosomal Enzymes Intracellular Nitric Oxide Homeostasis Multicellular Organism Growth Endosome To Melanosome Transport Vasodilation Circadian Sleep/wake Cycle Pigmentation ATP Metabolic Process Adenosine Metabolic Process Intracellular Transport Lung Alveolus Development Anterograde Synaptic Vesicle Transport Homeostasis Of Number Of Cells Positive Regulation Of Pigment Cell Differentiation Actin Filament Bundle Assembly Lipid Homeostasis Cilium Assembly Membrane Fusion Cellular Response To Epidermal Growth Factor Stimulus Protein Transmembrane Transport Response To Acetylcholine
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
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)	None
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 )	No GWAS studies recorded
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 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	Not available
GO Terms Enriched among Interactors		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	Organelle Localization BLOC-1 Complex Establishment Of Localization In Cell Intracellular Transport Cellular Localization Axo-dendritic Transport Organelle Organization Establishment Of Organelle Localization Microtubule-based Process Establishment Of Vesicle Localization Anterograde Synaptic Vesicle Transport Vesicle Organization Transport Along Microtubule Vesicle Localization Vesicle Transport Along Microtubule Cytoskeleton-dependent Intracellular Transport Microtubule-based Transport Vesicle Cytoskeletal Trafficking Axon Cytoplasm Axonal Transport Protein Transport Establishment Of Protein Localization Synaptic Vesicle Transport Melanosome Organization Pigment Granule Organization Vesicle-mediated Transport Anterograde Axonal Transport Organelle Transport Along Microtubule Intracellular Protein Localization Cytoplasm Cytosol Neuron Projection Neuron Projection Development Regulation Of Lysosome Size BORC Complex Microtubule-based Movement Exocytosis Growth Cone Cytoskeleton Organization Perikaryon Regulation Of Endosome Size Cytoplasmic Side Of Lysosomal Membrane Cell Projection Organization Supramolecular Fiber Organization Regulation Of Supramolecular Fiber Organization Centrosome Secretion By Cell Regulation Of Vesicle Size Lysosome Localization PTB Domain Binding