Sodium bicarbonate transporter-like protein 11

SLC4A11
Identifiers
Aliases	SLC4A11 , BTR1, CDPD1, CHED2, NABC1, dJ794I6.2, CHED, solute carrier family 4 member 11
External IDs	OMIM: 610206 MGI: 2138987 HomoloGene: 12931 GeneCards: SLC4A11
Gene location (Human)
Chr.	Chromosome 20 (human)
End	3,239,559 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	130,539,439 bp
RNA expression pattern
	Top expressed in
	left lobe of thyroid gland; ; pancreatic ductal cell; ; parotid gland; ; minor salivary gland; ; right lobe of thyroid gland; ; bronchial epithelial cell; ; palpebral conjunctiva; ; skin of abdomen; ; cavity of mouth; ; left adrenal gland;
	Top expressed in
	inner renal medulla; ; morula; ; outer renal medulla; ; blastocyst; ; cochlea; ; iris; ; olfactory epithelium; ; inner stripe of outer renal medulla; ; thin ascending limb of loop of Henle; ; cornea;
	More reference expression data
	n/a
Gene ontology
Molecular function	proton channel activity ; protein dimerization activity ; sodium channel activity ; bicarbonate transmembrane transporter activity ; active borate transmembrane transporter activity ; inorganic anion exchanger activity ; symporter activity ;
Cellular component	integral component of membrane ; membrane ; plasma membrane ; basolateral plasma membrane ; integral component of plasma membrane ;
Biological process	ion 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 transport ;
	Sources:Amigo / QuickGO
Orthologs
	83959
	269356
	ENSG00000088836
	ENSMUSG00000074796
	Q8NBS3
	A2AJN7
NM_001174089 ; NM_001174090 ; NM_032034 ; NM_001363745 ; NM_001400277 ;
	NM_001400278 ; NM_001400279 ; NM_001400280
	NM_001081162
	NP_001167560 ; NP_001167561 ; NP_114423 ; NP_001350674
	NP_001074631
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated January 10, 2024

Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.^[5]^[6]^[7]^[8]

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000088836 - Ensembl, May 2017
1 2 3 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".

Bonaldo 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. Bibcode:2001Natur.414..865D. 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. Bibcode:2002PNAS...9916899M. 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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000088836 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid10843999-5] 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.

[pmid11302728-6] 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.

[pmid16767101-7] 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.

[entrez-8] "Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11".

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Sodium bicarbonate transporter-like protein 11

Contents

See also

Related Research Articles

References

Further reading