SLC4A11

From Wikipedia, the free encyclopedia

Solute carrier family 4, sodium bicarbonate transporter-like, member 11

Identifiers

SLC4A11; CHED2; NABC1; BTR1; MGC126418; MGC126419; dJ794I6.2

External IDs

OMIM: 610206 MGI: 2138987 HomoloGene: 12931

Gene ontology
Molecular Function:	• inorganic anion exchanger activity
Cellular Component:	• membrane • integral to membrane
Biological Process:	• anion transport

Orthologs

Human

Mouse

n/a

Refseq

NM_032034 (mRNA)
NP_114423 (protein)

XM_194050 (mRNA)
XP_194050 (protein)

Location

Chr 20: 3.16 - 3.17 Mb

Chr 2: 130.38 - 130.38 Mb

Pubmed search

[1]

[2]

Solute carrier family 4, sodium bicarbonate transporter-like, member 11, also known as SLC4A11, is a human gene.^[1]

[edit] See also

Solute carrier family

[edit] References

^ Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11.

[edit] Further reading

Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791-806. 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. 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.
Luong A, Hannah VC, Brown MS, Goldstein JL (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 (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.
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. 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. 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.
Vithana EN, Morgan P, Sundaresan P, et al. (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.
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. 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. 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. 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.
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.
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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v • d • e Membrane proteins, carrier proteins: membrane transport proteins

ABC-transporter	A1, A2, A3, A4, A7, A8, A12, B1 B2-3, B2, B3, B4, B5, B6, B7, B9, B11 C1, C2, C3, C4, C5, C6, C8, C8-9, C10, C13, C11 D1, D2, D3, D4, E1, F1, F2 G1, G2, G4, Sterolin (G5, G8)

Solute carrier	1A1-7, 1A1, 1A2, 1A3, 1A4, 1A5, 2A1, 2A2, 2A3, 2A4, 2A5, 2A6, 2A8, 2A9, 2A10, 2A12, 3A1, 3A2, 4A1, 4A2, 4A3, 4A4, 4A5, 4A7, 4A8, 4A11, 5A1-2, 5A1, 5A3, 5A5, 5A8, 6A1, 6A2, 6A3, 6A4, 6A5, 6A8, 6A9, 6A19, 7A1, 7A2, 7A3, 7A4, 7A5, 7A7, 7A8, 7A9, 7A11, 8A1-3, 9A1, 9A2, 9A3, 9A3R1, 9A3R2, 9A5, 9A6, 9A8, 10A1, 10A2, 10A3, 10A7, 11A1, 11A2, 11A3, 12A1-2, 12A3, 12A4, 12A5, 12A6, 12A7, 14A1, 13A3, 14A2, 15A1, 15A2, 16A1, 16A2, 16A3, 16A4, 17A1, 17A5, 17A6-8, 17A7, 18A1, 18A2, 18A3, 19A1, 19A2, 19A3, 20A1, 20A2, 22A1, 22A2, 22A3, 22A4, 22A5, 22A6, 22A7, 22A9, 22A11, 22A12, 22A18, 23A1, 23A2, 24A1-2, 24A5, 25A1, 25A3, 25A4, 25A4-6, 25A8, 25A10, 25A11, 25A12, 25A13, 25A14, 25A15, 25A17, 25A19, 25A20, 25A27, 25A31, 25A37, 25A39, 26A2, 26A3, 26A4, 26A5, 26A6, 26A7, 26A8, 27A1, 27A2, 27A3, 27A4, 28A1, 28A2, 29A1, 29A2, 29A4, 30A4, 30A7, 30A8, 31A1, 31A2, 32A1, 34A1, 34A2, 34A3, 35A1, 35A2, 35B2, 35B4, 35C1, 36A1, 37A4, 38A2, 38A3, 39A1, 39A2, 39A3, 39A4, 39A6, 39A7, 40A1, 43A1 44A1, 44A2, 44A4, 45A2, O1A2, O1B1, O1B3, O2B1, O431, O4A1

Monosaccharide	GLUT1, GLUT2, GLUT3, GLUT4, GLUT5, GLUT6, GLUT8, GLUT9

Other	Amino acid (CD98) - Fatty acid (CD36) - Ion channels - Ion pumps - Mitochondrial membrane transport protein - Neurotransmitter transport proteins - Nuclear (Importin, Karyopherin)