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SLC14A1

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Identifiers
SymbolsSLC14A1 ; HUT11; HsT1341; JK; RACH1; RACH2; UT-B1; UT1; UTE
External IDsOMIM613868 MGI1351654 HomoloGene9285 IUPHAR: 982 GeneCards: SLC14A1 Gene
RNA expression pattern
File:PBB GE SLC14A1 205856 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez6563108052
EnsemblENSG00000141469ENSMUSG00000059336
UniProtQ13336Q8VHL0
RefSeq (mRNA)NM_001128588NM_001171010
RefSeq (protein)NP_001122060NP_001164481
Location (UCSC)Chr 18:
43.3 – 43.33 Mb
Chr 18:
78.1 – 78.14 Mb
PubMed search[1][2]

Urea transporter, erythrocyte is a protein that in humans is encoded by the SLC14A1 gene.[1][2]

Function

The SLC14A1 codes for a urea transporter (UTB) that is expressed in erythrocytes and kidney. SLC14A2 and SLC14A1 constitute solute carrier family 14. UTB proteins constitute the Kidd antigen system.

References

  1. ^ Olives B, Mattei MG, Huet M, Neau P, Martial S, Cartron JP, Bailly P (Aug 1995). "Kidd blood group and urea transport function of human erythrocytes are carried by the same protein". J Biol Chem 270 (26): 15607–10. PMID 7797558. doi:10.1074/jbc.270.26.15607. 
  2. ^ "Entrez Gene: SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)". 

Further reading

  • Geitvik GA, Høyheim B, Gedde-Dahl T et al. (1987). "The Kidd (JK) blood group locus assigned to chromosome 18 by close linkage to a DNA-RFLP.". Hum. Genet. 77 (3): 205–9. PMID 2890568. doi:10.1007/BF00284470. 
  • Olives B, Neau P, Bailly P et al. (1995). "Cloning and functional expression of a urea transporter from human bone marrow cells.". J. Biol. Chem. 269 (50): 31649–52. PMID 7989337. 
  • Davey S, Beach D (1996). "RACH2, a novel human gene that complements a fission yeast cell cycle checkpoint mutation.". Mol. Biol. Cell 6 (10): 1411–21. PMC 301296. PMID 8573795. doi:10.1091/mbc.6.10.1411. 
  • Olivès B, Martial S, Mattei MG et al. (1996). "Molecular characterization of a new urea transporter in the human kidney.". FEBS Lett. 386 (2-3): 156–60. PMID 8647271. doi:10.1016/0014-5793(96)00425-5. 
  • Olivès B, Merriman M, Bailly P et al. (1997). "The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility.". Hum. Mol. Genet. 6 (7): 1017–20. PMID 9215669. doi:10.1093/hmg/6.7.1017. 
  • Lucien N, Sidoux-Walter F, Olivès B et al. (1998). "Characterization of the gene encoding the human Kidd blood group/urea transporter protein. Evidence for splice site mutations in Jknull individuals.". J. Biol. Chem. 273 (21): 12973–80. PMID 9582331. doi:10.1074/jbc.273.21.12973. 
  • Irshaid NM, Thuresson B, Olsson ML (1998). "Genomic typing of the Kidd blood group locus by a single-tube allele-specific primer PCR technique.". Br. J. Haematol. 102 (4): 1010–4. PMID 9734652. doi:10.1046/j.1365-2141.1998.00874.x. 
  • Sidoux-Walter F, Lucien N, Olivès B et al. (1999). "At physiological expression levels the Kidd blood group/urea transporter protein is not a water channel.". J. Biol. Chem. 274 (42): 30228–35. PMID 10514515. doi:10.1074/jbc.274.42.30228. 
  • Irshaid NM, Henry SM, Olsson ML (2000). "Genomic characterization of the kidd blood group gene:different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns.". Transfusion 40 (1): 69–74. PMID 10644814. doi:10.1046/j.1537-2995.2000.40010069.x. 
  • Sidoux-Walter F, Lucien N, Nissinen R et al. (2000). "Molecular heterogeneity of the Jk(null) phenotype: expression analysis of the Jk(S291P) mutation found in Finns.". Blood 96 (4): 1566–73. PMID 10942407. 
  • Lucien N, Chiaroni J, Cartron JP, Bailly P (2002). "Partial deletion in the JK locus causing a Jk(null) phenotype.". Blood 99 (3): 1079–81. PMID 11807016. doi:10.1182/blood.V99.3.1079. 
  • Irshaid NM, Eicher NI, Hustinx H et al. (2002). "Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.". Br. J. Haematol. 116 (2): 445–53. PMID 11841450. doi:10.1046/j.1365-2141.2002.03238.x. 
  • Lucien N, Sidoux-Walter F, Roudier N et al. (2002). "Antigenic and functional properties of the human red blood cell urea transporter hUT-B1.". J. Biol. Chem. 277 (37): 34101–8. PMID 12093813. doi:10.1074/jbc.M205073200. 
  • 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. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899. 
  • 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. PMID 14702039. doi:10.1038/ng1285. 
  • Inoue H, Jackson SD, Vikulina T et al. (2004). "Identification and characterization of a Kidd antigen/UT-B urea transporter expressed in human colon.". Am. J. Physiol., Cell Physiol. 287 (1): C30–5. PMID 14985236. doi:10.1152/ajpcell.00443.2003. 
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