Entity Details

Primary name B3AT_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP02730
EntryNameB3AT_HUMAN
FullNameBand 3 anion transport protein
TaxID9606
Evidenceevidence at protein level
Length911
SequenceStatuscomplete
DateCreated1986-07-21
DateModified2021-06-02

Ontological Relatives

GenesSLC4A1

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

Subcellular Location

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Subcellular Location
Basolateral cell membrane
Cell membrane

Domains

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DomainNameCategoryType
IPR001717 Anion exchange proteinFamilyFamily
IPR002977 Anion exchange protein 1FamilyFamily
IPR003020 Bicarbonate transporter, eukaryoticFamilyFamily
IPR011531 Bicarbonate transporter, C-terminalDomainDomain
IPR013769 Band 3 cytoplasmic domainDomainDomain
IPR016152 Phosphotransferase/anion transporterFamilyHomologous superfamily
IPR018241 Anion exchange, conserved siteSiteConserved site

Diseases

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Disease IDSourceNameDescription
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.
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.
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.
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.
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

29 interactions

InteractorPartnerSourcesPublicationsLink
B3AT_HUMANCDN2A_HUMANBioGRID, MINT15811326 details
B3AT_HUMANAT1B1_HUMANIntAct25012180 details
B3AT_HUMANTMM60_HUMANBioGRID, IntAct32296183 details
B3AT_HUMANFHR5_HUMANBioGRID, IntAct32296183 details
B3AT_HUMANBMP10_HUMANBioGRID, IntAct32296183 details
B3AT_HUMANB3AT_HUMANBioGRID, DIP, HPRD11049968 26542571 7479704 details
B3AT_HUMANEPB42_HUMANBioGRID, IntAct23219802 7626035 details
B3AT_HUMANG3P_HUMANIntAct20980406 details
B3AT_HUMANPERM_HUMANIntAct26714302 details
B3AT_HUMANNADAP_HUMANBioGRID, HPRD11934690 9422766 details
B3AT_HUMANCAH2_HUMANBioGRID, HPRD10820026 11063570 11606574 9774471 details
B3AT_HUMANCAH4_HUMANBioGRID, HPRD11994299 details
B3AT_HUMANKSYK_HUMANBioGRID, HPRD10605028 10942405 16118313 1998697 2065070 details
B3AT_HUMANARF_HUMANBioGRID, HPRD15811326 details
B3AT_HUMANADA33_HUMANBioGRID32296183 details
B3AT_HUMANACTC_HUMANHPRD12898519 details
B3AT_HUMANPTN1_HUMANMINT8615784 details
B3AT_HUMANPTN11_HUMANMINT12070037 details
B3AT_HUMANGLPA_HUMANIntAct19438409 23219802 details
B3AT_HUMANSTOM_HUMANIntAct23219802 details
B3AT_HUMANANK1_HUMANBioGRID, HPRD27742708 6449514 8227202 details
B3AT_HUMANCALX_HUMANBioGRID, HPRD10364201 details
B3AT_HUMANCLUS_HUMANBioGRID22016805 details
B3AT_HUMANHBA_HUMANBioGRID22016805 details
B3AT_HUMANKAT2B_HUMANBioGRID28042499 details
B3AT_HUMANEPB41_HUMANHPRD1639060 details
B3AT_HUMANLYN_HUMANHPRD10942405 16118313 1998697 2065070 details
B3AT_HUMANRHAG_HUMANHPRD12531814 details
B3AT_HUMANBL1S6_HUMANHPRD2968981 details