Urea transporter 1

SLC14A1
Identifiers
Aliases	SLC14A1, HUT11, HsT1341, JK, RACH1, RACH2, UT-B1, UT1, UTE, solute carrier family 14 member 1 (Kidd blood group), Jk(b), HUT11A, Jk(a)
External IDs	OMIM: 613868; MGI: 1351654; HomoloGene: 9285; GeneCards: SLC14A1; OMA:SLC14A1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human) Band 18q12.3 Start 45,687,025 bp End 45,752,520 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18|18 E3 Start 78,143,306 bp End 78,185,334 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia mucosa of urinary bladder trabecular bone right coronary artery internal globus pallidus ascending aorta dorsal motor nucleus of vagus nerve optic nerve substantia nigra prostate Top expressed in bone marrow urinary bladder male urethra ovary spleen inner renal medulla epithelium of male urethra female urethra renal vein Transitional epithelium of renal pelvis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function water transmembrane transporter activity urea channel activity urea transmembrane transporter activity protein binding Cellular component integral component of membrane plasma membrane basolateral plasma membrane integral component of plasma membrane nucleolus intracellular membrane-bounded organelle membrane Biological process water transport urea transport urea transmembrane transport transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6563 108052 Ensembl ENSG00000141469 ENSMUSG00000059336 UniProt Q13336 Q8VHL0 RefSeq (mRNA) NM_001128588 NM_001146036 NM_001146037 NM_001308278 NM_001308279 NM_015865 NM_001171010 NM_001171011 NM_028122 RefSeq (protein) NP_001122060 NP_001139508 NP_001139509 NP_001295207 NP_001295208 NP_056949 NP_001164481 NP_001164482 NP_082398 Location (UCSC) Chr 18: 45.69 – 45.75 Mb Chr 18: 78.14 – 78.19 Mb PubMed search
Wikidata
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Urea transporter 1 is a protein that in humans is encoded by the SLC14A1 gene.

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.

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. doi:10.1007/BF00284470. PMID 2890568.
• 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. doi:10.1091/mbc.6.10.1411. PMC 301296. PMID 8573795.
• 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. doi:10.1016/0014-5793(96)00425-5. PMID 8647271.
• 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. doi:10.1093/hmg/6.7.1017. PMID 9215669.
• 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. doi:10.1074/jbc.273.21.12973. PMID 9582331.
• 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. doi:10.1046/j.1365-2141.1998.00874.x. PMID 9734652.
• 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. doi:10.1074/jbc.274.42.30228. PMID 10514515.
• 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. doi:10.1046/j.1537-2995.2000.40010069.x. PMID 10644814.
• 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. doi:10.1182/blood.V99.3.1079. PMID 11807016.
• 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. doi:10.1046/j.1365-2141.2002.03238.x. PMID 11841450.
• 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. doi:10.1074/jbc.M205073200. PMID 12093813.
• 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.
• 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.
• 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. doi:10.1152/ajpcell.00443.2003. PMID 14985236.