SLC4A5
| Solute carrier family 4, sodium bicarbonate cotransporter, member 5 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | SLC4A5; NBC4 | ||||||||||||
| External IDs | OMIM: 606757 MGI: 2443220 HomoloGene: 31125 GeneCards: SLC4A5 Gene | ||||||||||||
|
|||||||||||||
| RNA expression pattern | |||||||||||||
 |
|||||||||||||
| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 57835 | 232156 | |||||||||||
| Ensembl | ENSG00000188687 | ENSMUSG00000068323 | |||||||||||
| UniProt | Q9BY07 | D3YVG0 | |||||||||||
| RefSeq (mRNA) | NM_021196 | NM_001166067 | |||||||||||
| RefSeq (protein) | NP_067019 | NP_001159539 | |||||||||||
| Location (UCSC) | Chr 2: 74.44 – 74.57 Mb |
Chr 6: 83.22 – 83.3 Mb |
|||||||||||
| PubMed search | [1] | [2] | |||||||||||
Electrogenic sodium bicarbonate cotransporter 4 is a protein that in humans is encoded by the SLC4A5 gene.[1][2][3]
Function
This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined.[3]
Clinical significance
This human gene has been identified as a hypertension susceptibility gene based on the association of single nucleotide polymorphisms with blood pressure (BP) levels and hypertension status.[4]
See also
- SLC4A5 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
References
- ^ Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I (Nov 2000). "Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family". Biochim Biophys Acta 1493 (1–2): 215–8. doi:10.1016/S0167-4781(00)00149-4. PMID 10978526.
- ^ Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I (Mar 2001). "Two C-terminal variants of NBC4, a new member of the sodium bicarbonate cotransporter family: cloning, characterization, and localization". IUBMB Life 50 (1): 13–9. doi:10.1080/15216540050176539. PMID 11087115.
- ^ a b "Entrez Gene: SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5".
- ^ Gröger N, Vitzthum H, Fröhlich H, Krüger M, Ehmke H, Braun T, Boettger T (March 2012). "Targeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosis". Hum. Mol. Genet. 21 (5): 1025–36. doi:10.1093/hmg/ddr533. PMID 22082831.
Further reading
- Soleimani M, Burnham CE (2002). "Na+:HCO(3-) cotransporters (NBC): cloning and characterization". J. Membr. Biol. 183 (2): 71–84. doi:10.1007/s00232-001-0055-8. PMID 11562789.
- Hunt SC, Xin Y, Wu LL et al. (2006). "Sodium bicarbonate cotransporter polymorphisms are associated with baseline and 10-year follow-up blood pressures". Hypertension 47 (3): 532–6. doi:10.1161/01.HYP.0000196949.26088.3c. PMID 16365189.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Xu J, Wang Z, Barone S et al. (2003). "Expression of the Na+-HCO-3 cotransporter NBC4 in rat kidney and characterization of a novel NBC4 variant". Am. J. Physiol. Renal Physiol. 284 (1): F41–50. doi:10.1152/ajprenal.00055.2002 (inactive 2008-12-12). PMID 12388414.
- Pushkin A, Abuladze N, Newman D et al. (2002). "Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and p150(Glued)". Cytogenet. Cell Genet. 95 (3–4): 163–8. doi:10.1159/000059340. PMID 12063394.
- Sassani P, Pushkin A, Gross E et al. (2002). "Functional characterization of NBC4: a new electrogenic sodium-bicarbonate cotransporter". Am. J. Physiol., Cell Physiol. 282 (2): C408–16. doi:10.1152/ajpcell.00409.2001 (inactive 2008-12-12). PMID 11788353.
 |
This membrane protein–related article is a stub. You can help Wikipedia by expanding it. |
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
