| Common Name: | KNBC |
| HGNC Symbol: | SLC4A4 |
| HGNC Description: | solute carrier family 4, sodium bicarbonate cotransporter, member 4 |
| HGNC ID: | 11030 |
| Chromosome: | Chr.4(+): 72271867-72656663 |
| Location: | 4q21 |
| OMIM: | 603345 |
| OMIM Phenotype: | Renal tubular acidosis, proximal, with ocular abnormalities |
| Accessions: | AF007216 |
| Nucleotide RefSeq: | NM_001098484 |
| Protein RefSeq: | NP_001091954 |
| Entrez: | 8671 |
| Isoforms: | 3 |
| Evidence: | Substrate In Vitro Evidence: Na+:HCO3- cotransporter (HEK293 cells expressing kNBC; Xenopus laevis oocytes expressing pNBC; Xenopus laevis oocytes expressing hhNBC) Burnham, C. E.; Amlal, H.; Wang, Z.; Shull, G. E.; Soleimani, M. Cloning and functional expression of a human kidney Na+:HCO3- cotransporter. J. Biol. Chem. 272: 19111-19114, 1997. Abuladze, N.; Lee, I.; Newman, D.; Hwang, J.; Boorer, K.; Pushkin, A.; Kurtz, I. Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter. J. Biol. Chem. 273: 17689-17695, 1998. Choi, I.; Romero, M. F.; Khandoudi, N.; Bril, A.; Boron, W. F. Cloning and characterization of a human electrogenic Na(+)-HCO(3-) cotransporter isoform (hhNBC). Am. J. Physiol. 276: C576-C584, 1999. Substrate In Vivo Evidence: Mutations in the SLC4A4 gene cause proximal renal tubular acidosis with bilateral glaucoma, cataracts, and band keratopathy in a patient. Igarashi, T.; Inatomi, J.; Sekine, T.; Cha, S. H.; Kanai, Y.; Kunimi, M.; Tsukamoto, K.; Satoh, H.; Shimadzu, M.; Tozawa, F.; Mori, T.; Shiobara, M.; Seki, G.; Endou, H. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. (Letter) Nature Genet. 23: 264-265, 1999. Tissue Distribution Evidence: kNBC, pNBC, and hhNBC are encoded by splice variants of the same gene, SLC4A4, or called NBC1. kNBC is highly expressed in kidney and pancreas and has a lower level in brain. (Northern blotting) Burnham, C. E.; Amlal, H.; Wang, Z.; Shull, G. E.; Soleimani, M. Cloning and functional expression of a human kidney Na+:HCO3- cotransporter. J. Biol. Chem. 272: 19111-19114, 1997. pNBC is expressed predominantly in pancreas, with less expression in kidney and several other tissues. (Northern blotting) Abuladze, N.; Lee, I.; Newman, D.; Hwang, J.; Boorer, K.; Pushkin, A.; Kurtz, I. Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter. J. Biol. Chem. 273: 17689-17695, 1998. hhNBC is strongly expressed in pancreas and weakly expressed in heart and brain. (Northern blotting) Choi, I.; Romero, M. F.; Khandoudi, N.; Bril, A.; Boron, W. F. Cloning and characterization of a human electrogenic Na(+)-HCO(3-) cotransporter isoform (hhNBC). Am. J. Physiol. 276: C576-C584, 1999. |
| Tissues: | kidney, pancreas; low level in brain and heart |
| Type: | protein coding |
| Sets: | 0 |
| PharmGKB ID: | PA35898 |
| HPRD ID: | 04516 |
| Substrates: | Na+:HCO3- |
| Trivial Names: | KNBC, NBC1, NBC2, pNBC, HNBC1, hhNMC, SLC4A5, DKFZp781H1314 |
| Transcripts: | NM_001098484 [Chr.4(+): 72271867-72656668] NM_001134742 [Chr.4(+): 72271867-72656668] NM_003759 [Chr.4(+): 72423634-72656668] |
View on UCSC Genome Browser or Ensembl Genome Browser
Transmembrane prediction:
Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.