Gene: [02p25/ACP1] acid phosphatase 1, soluble;
FUN | [1] The
enzyme has wide substrate specificity. It catalyzes hydrolysis of
orthophosphoric monoesters as well as transphosphorylation. [2] Systematic name: orthophosphoric-monoester phosphohydrolase (acid optimum). [3] The catalyzed reaction: an orthophosphoric monoester + H(2)O = an alcohol + orthophosphate." |
TIS | The enzyme is found not only in red blood cells, but also in other tissue cells, including cultured fibroblasts and lymphoblasts." |
EXP | Of interest are the data on the significant epistatic interaction of ACP1 with adenosine deaminase (GEM:20q1311/ADA), that determines the liability of some allele combinations to antenatal anomalies of growth and development." |
EAG | From the evolutionary point of view, it is interesting that two forms of acid phosphatase are linked with genetically different forms of aniridia: ACP1 is linked to AN1 in chromosome 2 (GEM:02p25/ACP1), and ACP2 is linked to AN2/PAX6 in chromosome 11p (GEM:11p11/ACP2 and GEM:11p13/PAX6)." |
FAG | The following genes coding for acid phosphatase isoforms have been found: GEM:11p11/ACP2; GEM:03q2/ACPPS; and GEM:19p132/ACP5." |
HIS | Until 1987, the regional localization 2p23 was considered to be probable for gene ACP1 (Hamerton-1975, Siciliano-1987, Thompson-1987). However, in HGMW-10 Povey-1989 (with reference to Siciliano, personal communication) indicated that the early data were inexact due to chromosome breakage in hybrid cells. On the basis of this report, as well as data of other authors on the close linkage of ACP1 with DNA fragment D2S1 that is located in 2p25, the most probable localization for ACP1 is now generally accepted to be 2p25." |
REF | LOC,CYG,LIN "Beemer &: Clin Genet, 24, 151, 1983 LOC,CYG,LIN "Berg K: CCG, 46, (HGM9), 580, 1987 LOC,CYG,LIN "Chu &: CCG, 14, (HGM2), 273-276, 1975 LOC,CYG,LIN "Emanuel &: Am J Med Genet, 4, 167-172, 1979 LOC,CYG,LIN "Ferguson-Smith &: Nature, 243, 271-273, 1973 PHE,FOG "Fuhrmann, Lichte: Humangenetik, 3, 121-126, 1966 PHE,FOG "Giblett, Scott: AJHG, 17, 425-432, 1965 COM,PAT "Gloria-Bottini &: Hum Genet, 82, 213-215, 1989 LOC,CYG,LIN "Hamerton JL &: AJHG, 27, 595-608, 1975a LOC,CYG,LIN "Hamerton JL &: CCG, 14, (HGM2), 346-348, 1975b PHE,FOG "Hopkinson &: Nature, 199, 969-971, 1963 LOC,CYG,LIN "Junien C &: Hum Genet, 48, 17-21, 1979 LOC,CYG,LIN "Larson LM &: Clin Genet, 22, 220-225, 1982 LOC,CYG,LIN "Lothe &: Ann Hum Genet, 50, 361-367, 1986 LOC,CYG,LIN "Magenis RE &: PNAS, 72, 4526-4530, 1975 PHE,FOG "Mohrenweiser, Novotny: AJHG, 34, 425-433, 1982 COM,LOC,MAP "Morton, Bruns: CCG, 46, (HGM9), 104-105, 1987 LOC,CYG,LIN "Neidich J &: Am J Med Genet, 27, 707-710, 1987 LOC,CYG,LIN "Pakstis &: CCG, 51, (HGM10), 1057, 1989 COM,LOC,MAP "Povey S, Falk: CCG, 51, (HGM10), 92, 1989 LOC,CYG,LIN "Povey S &: Ann Hum Genet, 38, 1-5, 1974 LOC,CYG,LIN "Siciliano &: CCG, 46, (HGM9), 691-692, 1987 LOC,CYG,LIN "Thompson LH &: Somat Cell Mol Genet, 13, 539-551, 1987 LOC,CYG,LIN "Wakita Y &: Hum Genet, 71, 259-260, 1985 LOC,CYG,LIN "Weitkamp LR &: CCG, 14, (HGM2), 446-450, 1975 PHE,FOG "Yoshihara, Mohrenweiser: AJHG, 32, 898-907, 1980 |
SWI | SWISSPROT: P24666; PA1S P24667 |
KEY | ant, hem |
CLA | coding, basic |
LOC | 02 p25 |
MIM | MIM: 171500 |
EZN | ENZYME: 3.1.3.2 |
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