Electrogenic sodium bicarbonate cotransporter 4

SLC4A5
Identifiers
Aliases	SLC4A5 , NBC4, NBCe2, solute carrier family 4 member 5
External IDs	OMIM: 606757; MGI: 2443220; HomoloGene: 31125; GeneCards: SLC4A5; OMA:SLC4A5 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p13.1 Start 74,216,242 bp [1] End 74,343,416 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6|6 C3 Start 83,196,810 bp [2] End 83,281,927 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve thyroid gland right lobe of thyroid gland left lobe of thyroid gland right testis left testis testicle corpus callosum cerebellar hemisphere right hemisphere of cerebellum Top expressed in choroid plexus of fourth ventricle retinal pigment epithelium Epithelium of choroid plexus ciliary body iris zygote secondary oocyte neural layer of retina right lung right lung lobe More reference expression data BioGPS More reference expression data
Gene ontology Molecular function inorganic anion exchanger activity anion transmembrane transporter activity sodium:bicarbonate symporter activity Cellular component integral component of membrane membrane plasma membrane apical plasma membrane integral component of plasma membrane Biological process epithelial cell development renal system process sodium ion transport anion transport retina development in camera-type eye mitochondrion distribution regulation of systemic arterial blood pressure regulation of gene expression cerebrospinal fluid secretion ion transport inorganic anion transport regulation of intracellular pH bicarbonate transport anion transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57835 232156 Ensembl ENSG00000188687 ENSMUSG00000068323 UniProt Q9BY07 n/a RefSeq (mRNA) NM_133479 NM_021196 NM_033323 NM_133478 NM_001386136 NM_001166067 RefSeq (protein) NP_067019 NP_597812 n/a Location (UCSC) Chr 2: 74.22 – 74.34 Mb Chr 6: 83.2 – 83.28 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Electrogenic sodium bicarbonate cotransporter 4 is a protein that in humans is encoded by the SLC4A5 gene. ^{[5] [6] [7]}

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. ^[7]

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. ^[8]

See also

• SLC4A5+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

References

1. GRCh38: Ensembl release 89: ENSG00000188687 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000068323 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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. S2CID   43332428.
7. "Entrez Gene: SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5".
8. 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. S2CID   26570876.
• Hunt SC, Xin Y, Wu LL, Cawthon RM, Coon H, Hasstedt SJ, Hopkins PN (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.
• Xu J, Wang Z, Barone S, Petrovic M, Amlal H, Conforti L, Petrovic S, Soleimani M (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. PMID   12388414.
• Pushkin A, Abuladze N, Newman D, Tatishchev S, Kurtz I (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. S2CID   46587599.
• Sassani P, Pushkin A, Gross E, Gomer A, Abuladze N, Dukkipati R, Carpenito G, Kurtz I (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. PMID   11788353.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.