Urea Transporter, Erythrocyte (UTE)

SLC14A1; HUT11; HsT1341; JK; RACH1; UT-B1; UT1; Solute Carrier Family 14 Member 1,Urea Transporter,Kidd Blood Group

SPN	S420
HGNC	10918
MGI	1351654
PubMed	23754249
RGD	3688
UniProt	Q13336
Wiki	SLC14A1

The possibility that the urea transporter of human erythrocytes may be related to Kidd blood group antigens was raised by the observation that red cells from Jk(a-b-) individuals which lack Kidd antigens exhibited an increased resistance to lysis in aqueous 2 M urea. These cells exhibited a defect in urea transport, whereas chloride, water, and ethylene glycol permeabilities, as well as aquaporin-associated Colton blood group antigens, were the same as in control cells. Olives et al. (1995) demonstrated that, indeed, the urea transporter of human erythrocytes is encoded by the Kidd locus. In coupled transcription-translation assays, the UTE cDNA directed the synthesis of a 36-kD protein that was immunoprecipitated by human anti-Jk(3) antibody produced by immunized Jk(a-b-) donors whose red cells lack Kidd antigens.

Reference

"Cloning and functional expression of a urea transporter from human bone marrow cells."
J. Biol. Chem. 269:31649-31652(1994) [PubMed] [Europe PMC] [Abstract]

"RACH2, a novel human gene that complements a fission yeast cell cycle checkpoint mutation."
Mol. Biol. Cell 6:1411-1421(1995) [PubMed] [Europe PMC] [Abstract]

"The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility."
Hum. Mol. Genet. 6:1017-1020(1997) [PubMed] [Europe PMC] [Abstract]

"At physiological expression levels, the Kidd blood group/urea transporter protein is not a water channel."
J. Biol. Chem. 274:30228-30235(1999) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Erythroid urea transporter deficiency due to novel JKnull alleles."
Transfusion 48:365-372(2008) [PubMed] [Europe PMC] [Abstract]

"Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains."
Biochim. Biophys. Acta 1828:956-966(2013) [PubMed] [Europe PMC] [Abstract]

"Molecular heterogeneity of the Jk(null) phenotype: expression analysis of the Jk(S291P) mutation found in Finns."
Blood 96:1566-1573(2000) [PubMed] [Europe PMC] [Abstract]

"Genomic characterization of the Kidd blood group gene: different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns."
Transfusion 40:69-74(2000) [PubMed] [Europe PMC] [Abstract]

"Two novel Jk(null) alleles derived from 222C>A in Exon 5 and 896G>A in Exon 9 of the JK gene."
Transfusion 49:259-264(2009) [PubMed] [Europe PMC] [Abstract]