SLC4A4 (Electrogenic sodium bicarbonate cotransporter 1) is an electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. It may regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. SLC4A4 interacts with carbonic anhydrase 2 and carbonic anhydrase 4 which may regulate transporter activity. There are four named isoforms produced by alternative splicing.
This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008].
Function: 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.
Subunit: Interacts with CA2/carbonic anhydrase 2 and CA4/carbonic anhydrase 4 which may regulate transporter activity.
Tissue Specificity: Isoform 1 is expressed in pancreas and to a lower extent in heart, skeletal muscle, liver, parotid salivary glands, prostate, colon, stomach, thyroid, brain and spinal chord. Corneal endothelium cells express only isoform 1 (at protein level). Isoform 2 is specifically expressed in kidney at the level of proximal tubules.
Post-translational modifications: Phosphorylation of Ser-1026 by PKA increases the binding of CA2 and changes the Na(+):HCO3(-) stoichiometry of the transporter from 3:1 to 2:1. Phosphorylation of Thr-49 regulates isoform 1 conductance.
N-glycosylation is not necessary for the transporter basic functions.
DISEASE: Defects in SLC4A4 are the cause of proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]; 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.
Note=Loss of interaction with and stimulation by CA4 is the cause of retinitis pigmentosa type 17 (RP17).
Similarity: Belongs to the anion exchanger (TC 2.A.31) family.
Sample:
Cerebrum (Mouse) Lysate at 40 ug
Cerebellum (Mouse) Lysate at 40 ug
Primary: Anti-SLC4A4 (SL21660R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 119 kD
Observed band size: 119 kD
Sample:
U251 (Human) Cell Lysate at 30 ug
Primary: Anti-SLC4A4 (SL21660R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 119 kD
Observed band size: 119 kD
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Specific References (1) | SL21660R has been referenced in 1 publications.
[IF=5.722] Liu, Zelin. et al. SLC4A4 promotes prostate cancer progression in vivo and in vitro via AKT-mediated signalling pathway. Cancer Cell Int. 2022 Dec;22(1):1-17 IHC ; Human.
