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Sodium bicarbonate transporter-like protein 11

Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.

SLC4A11
Identifiers
AliasesSLC4A11, BTR1, CDPD1, CHED2, NABC1, dJ794I6.2, CHED, solute carrier family 4 member 11
External IDsOMIM: 610206 MGI: 2138987 HomoloGene: 12931 GeneCards: SLC4A11
Gene location (Human)
Chr.Chromosome 20 (human)
Band20p13Start3,227,417 bp
End3,239,559 bp
Gene location (Mouse)
Chr.Chromosome 2 (mouse)
Band2|2 F1Start130,684,113 bp
End130,697,519 bp
RNA expression pattern
Bgee
Top expressed in
  • thyroid gland
  • renal cortex
  • minor salivary gland
  • parotid gland
  • salivary gland
  • kidney
More reference expression data
BioGPS
n/a
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 20: 3.23 – 3.24 MbChr 2: 130.68 – 130.7 Mb
PubMed search
Wikidata
  1. GRCh38: Ensembl release 89: ENSG00000088836 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000074796 - 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. Luong A, Hannah VC, Brown MS, Goldstein JL (Sep 2000). "Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins". J Biol Chem. 275 (34): 26458–66. doi:10.1074/jbc.M004160200. PMID 10843999.
  6. Parker MD, Ourmozdi EP, Tanner MJ (Apr 2001). "Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney". Biochem Biophys Res Commun. 282 (5): 1103–9. doi:10.1006/bbrc.2001.4692. PMID 11302728.
  7. Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T (Jun 2006). "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)". Nat Genet. 38 (7): 755–7. doi:10.1038/ng1824. PMID 16767101. S2CID 11112294.
  8. "Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11".


Sodium bicarbonate transporter-like protein 11
Sodium bicarbonate transporter like protein 11 Language Watch Edit 160 160 Redirected from SLC4A11 Sodium bicarbonate transporter like protein 11 is a protein that in humans is encoded by the SLC4A11 gene 5 6 7 8 SLC4A11IdentifiersAliasesSLC4A11 BTR1 CDPD1 CHED2 NABC1 dJ794I6 2 CHED solute carrier family 4 member 11External IDsOMIM 610206 MGI 2138987 HomoloGene 12931 GeneCards SLC4A11Gene location Human Chr Chromosome 20 human 1 Band20p13Start3 227 417 bp 1 End3 239 559 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 2 F1Start130 684 113 bp 2 End130 697 519 bp 2 RNA expression patternBgeeTop expressed inthyroid gland renal cortex minor salivary gland parotid gland salivary gland kidneyMore reference expression dataBioGPSn aGene ontologyMolecular functionproton channel activity protein dimerization activity sodium channel activity anion anion antiporter activity bicarbonate transmembrane transporter activity active borate transmembrane transporter activity inorganic anion exchanger activity symporter activityCellular componentintegral component of membrane membrane plasma membrane basolateral plasma membrane integral component of plasma membraneBiological procession homeostasis sodium ion transport cellular cation homeostasis ion transport anion transport fluid transport bicarbonate transport anion transmembrane transport borate transport sodium ion transmembrane transport borate transmembrane transport regulation of intracellular pH proton transmembrane transportSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez83959269356EnsemblENSG00000088836ENSMUSG00000074796UniProtQ8NBS3A2AJN7RefSeq mRNA NM 001174089 NM 001174090 NM 032034 NM 001363745NM 001081162RefSeq protein NP 001167560 NP 001167561 NP 114423 NP 001350674NP 001074631Location UCSC Chr 20 3 23 3 24 MbChr 2 130 68 130 7 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseSee also EditSolute carrier family Congenital endothelial dystrophy type 2References Edit a b c GRCh38 Ensembl release 89 ENSG00000088836 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000074796 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Luong A Hannah VC Brown MS Goldstein JL Sep 2000 Molecular characterization of human acetyl CoA synthetase an enzyme regulated by sterol regulatory element binding proteins J Biol Chem 275 34 26458 66 doi 10 1074 jbc M004160200 PMID 10843999 Parker MD Ourmozdi EP Tanner MJ Apr 2001 Human BTR1 a new bicarbonate transporter superfamily member and human AE4 from kidney Biochem Biophys Res Commun 282 5 1103 9 doi 10 1006 bbrc 2001 4692 PMID 11302728 Vithana EN Morgan P Sundaresan P Ebenezer ND Tan DT Mohamed MD Anand S Khine KO Venkataraman D Yong VH Salto Tellez M Venkatraman A Guo K Hemadevi B Srinivasan M Prajna V Khine M Casey JR Inglehearn CF Aung T Jun 2006 Mutations in sodium borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy CHED2 Nat Genet 38 7 755 7 doi 10 1038 ng1824 PMID 16767101 S2CID 11112294 Entrez Gene SLC4A11 solute carrier family 4 sodium bicarbonate transporter like member 11 Further reading EditBonaldo MF Lennon G Soares MB 1997 Normalization and subtraction two approaches to facilitate gene discovery Genome Res 6 9 791 806 doi 10 1101 gr 6 9 791 PMID 8889548 Callaghan M Hand CK Kennedy SM et al 1999 Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy CHED and autosomal dominant CHED are genetically distinct The British Journal of Ophthalmology 83 1 115 9 doi 10 1136 bjo 83 1 115 PMC 1722772 PMID 10209448 Hand CK Harmon DL Kennedy SM et al 1999 Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy CHED2 to chromosome 20 by homozygosity mapping Genomics 61 1 1 4 doi 10 1006 geno 1999 5920 PMID 10512674 Deloukas P Matthews LH Ashurst J et al 2002 The DNA sequence and comparative analysis of human chromosome 20 Nature 414 6866 865 71 doi 10 1038 414865a PMID 11780052 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 Moroi SE Gokhale PA Schteingart MT et al 2003 Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy Am J Ophthalmol 135 4 461 70 CiteSeerX 10 1 1 582 4887 doi 10 1016 S0002 9394 02 02032 9 PMID 12654361 Ota T Suzuki Y Nishikawa T et al 2004 Complete sequencing and characterization of 21 243 full length human cDNAs Nat Genet 36 1 40 5 doi 10 1038 ng1285 PMID 14702039 Park M Li Q Shcheynikov N et al 2004 NaBC1 is a ubiquitous electrogenic Na coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation Mol Cell 16 3 331 41 doi 10 1016 j molcel 2004 09 030 PMID 15525507 Jiao X Sultana A Garg P et al 2007 Autosomal recessive corneal endothelial dystrophy CHED2 is associated with mutations in SLC4A11 J Med Genet 44 1 64 8 doi 10 1136 jmg 2006 044644 PMC 2597914 PMID 16825429 Desir J Moya G Reish O et al 2007 Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non syndromic corneal endothelial dystrophy J Med Genet 44 5 322 6 doi 10 1136 jmg 2006 046904 PMC 2597979 PMID 17220209 Kumar A Bhattacharjee S Prakash DR Sadanand CS 2007 Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy two novel mutations in SLC4A11 Mol Vis 13 39 46 PMC 2503190 PMID 17262014 Ramprasad VL Ebenezer ND Aung T et al 2007 Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy CHED2 Mutation in brief 958 Online Hum Mutat 28 5 522 3 doi 10 1002 humu 9487 PMID 17397048 S2CID 2980020 Aldave AJ Yellore VS Bourla N et al 2007 Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11 Cornea 26 7 896 900 doi 10 1097 ICO 0b013e318074bb01 PMID 17667634 S2CID 20814910 Sultana A Garg P Ramamurthy B et al 2007 Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy Mol Vis 13 1327 32 PMID 17679935 This membrane protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Sodium bicarbonate transporter like protein 11 amp oldid 1045368165, wikipedia, wiki, book,

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