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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