Gene: [13q1411/ESD] esterase D (EC:3.1.1.1); S-formylglutathione hydrolase (FGH; EC:3.1.2.12);
LIN | ESD and RB1 genes are closely linked. Study of Mitchell-1988 have confirmed the data about ESD being located more proximal (more close to the centromere) than retinoblastoma gene (GEM:13q142/RB1). This agrees with data on analysis of linkage with the anonymous restriction fragments flanking WND gene (Bowcock-1988; see GEM:13q143/ATP7B)." |
GEN | The gene length is 35 kb. The mature transcript length is 1.2 kb. |
FUN | [1] According to
population and pedigree analysis data, ESD gene product is assumed to have
dual catalytic activity: esterase D and S-formylglutathione hydrolase
(Akiyama-1986, Apeshiotis-1986, Board-1986, Eiberg-1986, Varki-1986).
Varki-1986 suggested that esterase D is identical to sialo-specific
O-acetylesterase and participates in O-acetylated sialic acid metabolism.
[2] Systematic name for esterase D (EC:3.1.1.1): carboxylic-ester hydrolase. The catalyzed reaction: a carboxylic ester + H(2)O = an alcohol + a carboxylic anion. [3] Systematic name for (EC:3.1.2.12): S-formylglutathione hydrolase. The catalyzed reaction: S-formylglutathione + H(2)O = glutathione + formate." |
HIS | Duncan-1987, using in situ hybridization, localized ESD gene to 13q14.2-.3." |
PRO | Probe Probe
Vector Cloning Insert number name : name site(s) size(kb) [1] pESD 14.1.1: pCD/XhoI/PstI/1.2; [2] EL-22 : pBW20/SstI/EcoRI/0.53" |
POL | Enzyme Alleles in kb/(Popul Freq) Probe number [1] ApaI A1= 8.6/(0.80); A2= 7.2/(0.20) Probe 1 [2] ApaI A1= 8.6/(0.60); A2= 7.0/(0.40) Probe 2 [3] BanII B1= 4.4/(0.35); B2= 4.1/(0.65) Probe 2 [4] HincII C1= ?/(0.15); C2= ?/(0.85) Probe 1 [5] 4 haplotypes with frequencies 0.02-0.48 Probe 1" |
REF | FUN,PHE,FOG,POG
"Akiyama, Abe: Jpn J Hum Genet, 31, 353-355, 1986 FUN,PHE,FOG,POG "Apeshiotis, Bender: Hum Genet, 74, 176-177, 1986 PRO,LIN,MAP "Blanquet &: Clin Genet, 37, N4, 291, 1990 FUN,PHE,FOG,POG "Board, Coggan: Ann Hum Genet, 50, 35-39, 1986 LOC,LIN,MOL,MAG "Bowcock AM &: AJHG, 43, N5, 664-674, 1988 PRO,POL,MOL "Bowden &: CCG, 51, (HGM10), 967, 1989 LOC "Chen &: CCG, 14, (HGM2), 269-272, 1975 LOC "Dryja TP &: Hum Genet, 64, 151-155, 1983 LOC "Duncan AM &: CCG, 44, 153-157, 1987 FUN,PHE,FOG,POG "Eiberg H, Mohr: Hum Genet, 74, 174-175, 1986 LOC "Gray JE &: CCG, 22, (HGM4), 487-489, 1978 PRO,POL,MOL "Haines JL &: Genet Epidemiol, 5, 375-380, 1988 LOC "Hoo JJ &: Hum Genet, 60, 276-277, 1982 FUN,PHE,FOG,POG "Hopkinson &: Ann Hum Genet, 37, 119-137, 1973 FUN,PHE,FOG,POG "Huckenbeck W &: Hum Hered, 38, N6, 378-380, 1988 FUN,PHE,FOG,POG "Kozio, Stepien: Hum Genet, 53, 223-225, 1980 PRO,COD,SEQ,POL,MOL "Lee E, Lee WH: PNAS, 83, N17, 6337-6341, 1986 PRO,POL,MOL "Lee WH &: Hum Genet, 76, 33-36, 1987 LOC "Mitchell CD, Cowell: Hum Genet, 81, N1, 57-60, 1988 PRO,POL,MOL "Munier &: Hum Genet, 78, 289-290, 1988 FUN,PHE,FOG,POG "Olaisen &: Hum Genet, 57, 351-353, 1981 FUN,PHE,FOG,POG "Omoto &: Hum Hered, 25, 378-381, 1975 FUN,PHE,FOG,POG "Rittner, Muller: Hum Hered, 25, 152-155, 1975 FUN,PHE,FOG,POG "Sorensen, Fenger: Hum Hered, 26, 90-94, 1976 LOC "Sparkes RS &: Hum Genet, 68, N3, 258-259, 1984 LOC "Sparkes RS &: Science, 208, 1042-1044, 1980 PRO,COD,SEQ,POL,MOL "Squire J &: PNAS, 83, N17, 6573-6577, 1986 LOC "Telfer &: Clin Genet, 17, 428-432, 1980 FUN,PHE,FOG,POG "Uotila L: Hum Hered, 34, 273-277, 1984 LOC "van Heyningen V &: Ann Hum Genet, 38, 295-303, 1975 FUN,PHE,FOG,POG "Varki A &: PNAS, 83, N4, 882-886, 1986 LOC "Ward P &: J Med Genet, 21, N2, 92-95, 1984 PRO,GEN,MAF "Young L-JS &: Hum Genet, 79, 137-141, 1988 LOC "Yunis JJ, Ramsay: Am J Dis Child, 132, 161-163, 1978 |
SWI | SWISSPROT: P10768 |
KEY | ant |
CLA | coding, basic |
LOC | 13 q14.11 |
MIM | MIM: 133280 |
EZN | ENZYME: 3.1.1.1 |
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