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SLC4A4 Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. Defects in SLC4A4 are the cause of proximal renal tubular acidosis with ocular abnormalities (pRTA-OA); also known as renal tubular acidosis II. Caused by an impairment of bicarbonate absorption in the proximal tubule, proximal renal tubular acidosis (pRTA) is characterized by a decreased renal HCO3(-) threshold. pRTA-OA is an extremely rare autosomal recessive syndrome characterized by short stature, profound pRTA, mental retardation, bilateral glaucoma, cataracts and bandkeratopathy. Loss of interaction with and stimulation by CA4 is the cause of retinitis pigmentosa type 17 (RP17). Belongs to the anion exchanger (TC 2.A.31) family. 5 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, SLC family
Chromosomal Location of Human Ortholog: 4q13.3
Cellular Component: basolateral plasma membrane; integral to plasma membrane; plasma membrane
Molecular Function: protein binding; sodium:bicarbonate symporter activity
Biological Process: bicarbonate transport; regulation of intracellular pH; sodium ion transport; transport
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Reference #:  Q9Y6R1 (UniProtKB)
Alt. Names/Synonyms: DKFZp781H1314; Electrogenic sodium bicarbonate cotransporter 1; hhNMC; HNBC1; KNBC; kNBC1; Na(+)/HCO3(-) cotransporter; NBC; NBC1; NBC2; NBCE1; pNBC; S4A4; SLC4A4; SLC4A5; Sodium bicarbonate cotransporter; sodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas); Solute carrier family 4 member 4; solute carrier family 4, sodium bicarbonate cotransporter, member 4; solute carrier family 4, sodium bicarbonate cotransporter, member 4, brain type; solute carrier family 4, sodium bicarbonate cotransporter, member 5
Gene Symbols: SLC4A4
Molecular weight: 121,461 Da
Basal Isoelectric point: 6.35  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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