Entity Details

Primary name SLC4A1
Entity type gene
Source Source Link

Details

PrimaryID6521
RefseqGeneNG_007498
SymbolSLC4A1
Namesolute carrier family 4 member 1 (Diego blood group)
Chromosome17
Location17q21.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1994-11-18
ModificationDate2021-06-19

Ontological Relatives

UniProt IDsB3AT_HUMAN

GO terms

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GOName
GO:0005452 inorganic anion exchanger activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006820 anion transport
GO:0006821 chloride transport
GO:0006873 cellular ion homeostasis
GO:0007596 blood coagulation
GO:0008509 anion transmembrane transporter activity
GO:0009898 cytoplasmic side of plasma membrane
GO:0015106 bicarbonate transmembrane transporter activity
GO:0015108 chloride transmembrane transporter activity
GO:0015301 anion:anion antiporter activity
GO:0015701 bicarbonate transport
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0017121 plasma membrane phospholipid scrambling
GO:0022857 transmembrane transporter activity
GO:0030018 Z disc
GO:0030492 hemoglobin binding
GO:0030506 ankyrin binding
GO:0030863 cortical cytoskeleton
GO:0035811 negative regulation of urine volume
GO:0042803 protein homodimerization activity
GO:0043495 protein-membrane adaptor activity
GO:0045852 pH elevation
GO:0048821 erythrocyte development
GO:0050801 ion homeostasis
GO:0051354 negative regulation of oxidoreductase activity
GO:0051453 regulation of intracellular pH
GO:0055085 transmembrane transport
GO:0070062 extracellular exosome
GO:0072562 blood microparticle
GO:0072659 protein localization to plasma membrane
GO:1904539 negative regulation of glycolytic process through fructose-6-phosphate

Diseases

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Disease IDSourceNameDescription
179800 OMIMRenal tubular acidosis, distal, autosomal dominant (AD-dRTA)An autosomal dominant disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. The disease is caused by variants affecting the gene represented in this entry.
612653 OMIMSpherocytosis 4 (SPH4)Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The disease is caused by variants affecting the gene represented in this entry.
185020 OMIMCryohydrocytosis (CHC)An autosomal dominant disorder of red cell membrane permeability characterized by cold-induced changes in cell volume, resulting in cold-sensitive stomatocytosis, and increased erythrocyte osmotic fragility and autohemolysis at 4 degrees Celsius. Patients present with mild to moderate hemolytic anemia, splenomegaly, fatigue, and pseudohyperkalemia due to a potassium leak from the erythrocytes. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.
611590 OMIMRenal tubular acidosis, distal, with hemolytic anemia (dRTA-HA)A disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. The disease is caused by variants affecting the gene represented in this entry.
611590 OMIMRenal tubular acidosis, distal, with hemolytic anemia (dRTA-HA)A disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. The disease is caused by variants affecting the gene represented in this entry.
166900 OMIMOvalocytosis, Southeast Asian (SAO)A hereditary hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic. The disease is caused by variants affecting the gene represented in this entry.
130600 OMIMElliptocytosis 2 (EL2)A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.

Interactions

49 interactions

InteractorPartnerSourcesPublicationsLink
SLC4A1CDKN2ABioGRID, HPRD, MINT15811326 details
SLC4A1ATP1B1IntAct25012180 details
SLC4A1TMEM60BioGRID, IntAct32296183 details
SLC4A1CFHR5BioGRID, IntAct32296183 details
SLC4A1BMP10BioGRID, IntAct32296183 details
SLC4A1SLC4A1BioGRID, DIP, HPRD11049968 26542571 7479704 details
SLC4A1EPB42BioGRID, IntAct23219802 7626035 details
SLC4A1GAPDHIntAct20980406 details
SLC4A1MPOIntAct26714302 details
SLC4A1SLC4A1APBioGRID, HPRD11934690 9422766 details
SLC4A1CA2BioGRID, HPRD10820026 11063570 11606574 9774471 details
SLC4A1CA4BioGRID, HPRD11994299 details
SLC4A1SYKBioGRID, HPRD10605028 10942405 16118313 1998697 2065070 details
SLC4A1ADAM33BioGRID32296183 details
SLC4A1ACTC1HPRD12898519 details
SLC4A1PTPN1MINT8615784 details
SLC4A1PTPN11MINT12070037 details
SLC4A1GYPAIntAct19438409 23219802 details
SLC4A1STOMIntAct23219802 details
SLC4A1ANK1BioGRID, HPRD27742708 6449514 8227202 details
SLC4A1CANXBioGRID, HPRD10364201 details
SLC4A1CLUBioGRID22016805 details
SLC4A1HBA1BioGRID22016805 details
SLC4A1KAT2BBioGRID28042499 details
SLC4A1EPB41HPRD1639060 details
SLC4A1LYNHPRD10942405 16118313 1998697 2065070 details
SLC4A1RHAGHPRD12531814 details
SLC4A1BLOC1S6HPRD2968981 details
SLC4A1ATP1A1IntAct25012180 details
SLC4A1FLOT1IntAct23219802 details
SLC4A1FLOT2IntAct23219802 details
SLC4A1SLC2A1IntAct23219802 details
SLC4A1KELIntAct23219802 details
SLC4A1SLC40A1IntAct23219802 details
SLC4A1SLC14A1IntAct23219802 details
SLC4A1ALDOAIntAct23219802 details
SLC4A1BCAMIntAct23219802 details
SLC4A1ICAM4IntAct23219802 details
SLC4A1SPTA1IntAct23219802 details
SLC4A1SPTBIntAct23219802 details
SLC4A1AQP1IntAct23219802 details
SLC4A1ATP2B4IntAct23219802 details
SLC4A1NIPSNAP2BioGRID31536960 details
SLC4A1TOMM40BioGRID31536960 details
SLC4A1HADHBBioGRID31536960 details
SLC4A1VDAC2BioGRID31536960 details
SLC4A1VDAC3BioGRID31536960 details
SLC4A1BRD2BioGRID31753913 details
SLC4A1BRD3BioGRID31753913 details