Gene: [18q/SLC14A1] solute carrier family 14 (urea transporter), member 1; Kidd blood group antigen; urea transporter 1, erythrocyte; [JK UTE ]
COM | [1] Data on
chromosomal and regional localization of Kidd blood group antigen have been
controversial at one time. In 1970s, evidences in favor of JK localization
in either Chr 2 or Chr 7 were obtained on the basis of the analysis of
linkage with conventional genetic markers (L-kappa Ig (see GEM:02p12/IGKC; Field-1985 and Sherman-1985) and
Colton blood group (see GEM:07p14/AQP1;
Mohr-1977), respectively). In 1980s, results of molecular genetic studies
suggested the linkage with several unique molecular genetic markers mapped
to Chr 18p (Leppert-1987). Geitvik-1987 assigned JK to 18q11-q21. [2] Olives-1994 cloned the gene encoding the urea transporter of human erythrocytes (UTE). Olives-1995 assigned the gene to 18q12-q21 by isotopic in situ hybridization and demonstrated that UTE is encoded by the Kidd locus." |
POL | Olives-1997 showed that Kidd blood group antigen differences between Jk(a) and Jk(b) result from an Asp-Asn polymorphism at residue 280 (G-to-A transition at nucleotide 838)." |
REL | GEM:18q/SLC14A2. |
REF | LIN,LOC "Barbosa J &:
J Clin Endocrinol Metab, 55, 193-195, 1982 CLO,SEQ,STR "Davey S, Beach D: Mol Biol Cell, 6, 1411-1421, 1995 LIN,LOC "Field LL &: CCG, 40, (HGM8), 628-629, 1985 LOC,MOL "Geitvik GA &: Hum Genet, 77, 205-209, 1987 LIN,LOC "Hodge SE &: Lancet, 2, 893-895, 1981 LIN,LOC "Hulten M &: Nature, 211, 1067-1068, 1968 LIN,LOC "Keats BJ &: CCG, 22, 304-308, 1978 LIN,LOC "Keats BJ &: Hum Genet, 39, 157-159, 1977 LIN "Leppert M &: CCG, 46, (HGM9), 647, 1987 LIN,LOC "Mohr J, Eiberg H: Clin Genet, 11, 372-374, 1977 FUN,POL,ASS "Olives B &: Hum Mol Genet, 6, 1017-1020, 1997 FUN,EXP,LOC "Olives B &: JBC, 270, 15607-15610, 1995 CLO,SEQ "Olives B &: JBC, 269, 31649-31652, 1994 LIN,LOC "Pausch V, Mayr WR: Hum Hered, 37, 260-262, 1987 LIN,LOC "Sherman SL, Simpson SP: CCG, 40, (HGM8), 743-743, 1985 LIN,LOC "Shokeir MHK &: Clin Genet, 4, 360-368, 1973 |
SWI | SWISSPROT: Q13336 |
KEY | hem, blgr, ant, trp |
CLA | coding, basic |
LOC | 18 q12-21 |
MIM | MIM: 111000 |
SYN | JK UTE |
