ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Acid phosphatase 1, solubleLO000272LACP122p25
Synonyms:
Sites List: 
See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   GenBank sequence   GenBank sequence    Molecular Anthropology Lab    UniGene   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: ACP1 encodes acid phosphatase 1. The functionality of acid phosphatase 1 is to hydrolyze protein tyrosine phosphate to protein tyrosine and orthophosphate. Hopkinson et al. (1963) described three alleles (ACP1(A), ACP1(B), and ACP1(C))involved a new human erythrocyte acid phosphatase polymorphism. Another rare allele, P(r), was described by Giblett and Scott (1965). Sensabaugh and Golden (1978) [PubMed ID: 736044] showed that ACP1 is inhibited by folic acid and various folates, and that the inhibition is phenotype dependent: ACP1(C) more than ACP1(A) more than ACP1(B). Bryson et al. (1995) [PubMed ID: 8586411] showed that ACP1 locus contains 7 exons spanning 18 kb with a GC-rich promoter. Alternative splicing of exons 3 and 4 was shown to account for 2 different isozymes (f and s). Lothe et al. (1986) [PubMed ID: 3481680] found that ACP1 is very closely linked to D2S1, which maps to chromosome 2 at 2pter-p23. By using fluorescence in situ hybridization, Bryson et al. (1995) [PMID: 8586411] located the ACP1 locus to the distal portion of 2p25.
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)
dbSNP rs#
(Navigates to dbSNP
reference page)
Chr-PositionStatus# Populations
typed
TaqIrs7576247   26700313
rs12714402rs12714402   27292650
ACP1   10

References:
- Bryson GL, Massa H, Trask BJ, Van Etten RL. "Gene structure, sequence, and chromosomal localization of the human red cell-type low-molecular-weight acid phosphotyrosyl phosphatase gene, ACP1". Genomics 30:133-40. (1995)
Online citation.

- Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T, Rogers AR. "Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data.". Am. J. Hum. Genet. 57:523-538. (1995) Online citation.

- Lothe RA, Gedde-Dahl T, Olaisen B, Bakker E, Pearson P. "Very close linkage between D2S1 and ACP1 on chromosome 2p". Ann. Hum. Genet. 50:361-7. (1986) Online citation.

- Sensabaugh GF, Golden VL. "Phenotype dependence in the inhibition of red cell acid phosphatase (ACP) by folates". Am. J. Hum. Genet. 30:553-60. (1978) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan