SLCtables

SLC4A4

Protein name: NBCe1 Aliases: NBC, NBC1 Substrates: sodium bicarbonate (and/or carbonate) Transport type: Cotransporter Tissue and cellular expression: NBCe1-A: renal proximal tubule, eye, NBCe1-B: widely distributed, pancreas, heart, eye, NBCe1-C: brain Subcellular expression: N/D Disease: severe proximal renal tubular acidosis, ocular abnormalities, short stature Locus: 4q21 Sequence ID: NP_001091954.1, NM_001098484.2 NP_003750.1, NM_003759.3 Gene ID: 8671 Splice variants: 5 splice variants

S4A4_HUMAN (UniProt)

Gene names: SLC4A4, NBC, NBC1, NBCE1
Protein names and data: S4A4_HUMAN, Full=Electrogenic sodium bicarbonate cotransporter 1;Short=Sodium bicarbonate cotransporter, Full=Na(+)/HCO3(-) cotransporter;Full=Solute carrier family 4 member 4;Full=kNBC1; Length: 1079 a.a., Mass: 121461 Da,
fasta formatted sequence
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
Disease: (OMIM: 603345 604278) 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)
Cellular location: Basolateral cell membrane; Multi-pass membrane protein
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

Database cross-references

UniProt: Q9Y6R1
NextBio: 32523
OMIM: 603345 604278
Ensembl: ENST00000512686
GeneCard: GC04P071092
PharmGenUCSF: SLC4A4
Guide to Pharmacology: SLC4A4 (908)
Sodium-dependent HCO₃^- transporters (908)
HGNC: HGNC:11030

Genetic variants

See also Ensembl:ENST00000512686

342 - 342 R -> S (in pRTA-OA; mistargeting and altered function). VAR_024751
471 - 471 S -> L (in pRTA-OA; mistargeting to the apical membrane and altered function). VAR_024752
529 - 529 T -> S (in pRTA-OA; mistargeting and altered function). VAR_024753
554 - 554 R -> H (in pRTA-OA; mistargeting and altered function). VAR_024754
843 - 843 A -> V (in pRTA-OA; altered function). VAR_024755
925 - 925 R -> C (in pRTA-OA; altered function). VAR_024756