ACP1

acid phosphatase 1

Summary

The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]

Known Variants24 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10167992	2:263,270	T/C	upstream gene variant	—
rs7595075	2:264,019	C/G	—	—
rs114976176	2:264,621	A/C	regulatory region variant	—
rs111341344	2:264,879	C/A	regulatory region variant	—
rs11691572	2:264,985	G/T	—	benign
rs1180680808	2:264,987	C/T	—	uncertain significance
rs116051772	2:265,015	G/A	—	benign
rs143584646	2:265,017	C/T	—	benign
rs58461606	2:267,367	G/T	upstream gene variant	—
rs62114544	2:269,679	C/T	regulatory region variant	—
rs142497773	2:271,918	C/T	—	likely benign
rs2527789516	2:271,938	A/T	—	uncertain significance
rs11553742	2:272,051	C/T	intron variant	—
rs748319575	2:272,207	G/A	—	uncertain significance
rs886043643	2:272,223	G/A	—	uncertain significance
rs1397311253	2:272,250	G/T	—	uncertain significance
rs12714402	2:272,926	A/G	intron variant	—
rs62114548	2:274,672	C/G	regulatory region variant	—
rs2527797849	2:275,180	G/T	—	uncertain significance
rs4452185	2:276,346	T/C	downstream gene variant	—
rs79716074	2:277,003	A/G	missense variant	benign
rs34540815	2:277,229	G/A	—	benign
rs55709515	2:277,250	G/A	—	benign
rs751887778	2:277,255	A/G	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.