Description: Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 4, mRNA. RefSeq Summary (NM_001040649): 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]. Transcript (Including UTRs) Position: hg19 chr2:264,869-272,481 Size: 7,613 Total Exon Count: 3 Strand: + Coding Region Position: hg19 chr2:264,965-272,258 Size: 7,294 Coding Exon Count: 3
ID:B5MCC7_HUMAN DESCRIPTION: SubName: Full=Low molecular weight phosphotyrosine protein phosphatase; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
cholesterol; triglycerides; obesity Bottini, N. et al. 2002, Association of the acid phosphatase (ACP1) gene with triglyceride levels in obese women., Molecular genetics and metabolism. 2002 Nov;77(3):226-9.
[PubMed 12409270]
The present study suggests that those who gain weight and carry the ACP1 *A allele may be partially protected against developing the metabolic syndrome. The confirmation of ACP1 as a modifier gene of the metabolic complications could open the door to the prevention of the lethal complications of obesity.
diabetes, type 1 Meloni, G. F. et al. 2003, Association of the ACP1 genotype with metabolic parameters upon initial diagnosis of type 1 diabetes., Medical science monitor. 2003 Mar;9(3):CR105-8.
[PubMed 12640337]
These differences suggest that the enzyme might be involved in different signal transduction pathways relevant in the pathogenesis of these two classes of diabetic disorders. It would be interesting to study the possible correlation in Type 1 diabetes between ACP1 and immunological parameters.
diabetes, type 1 Bottini, N. et al. 2002, Genotypes of cytosolic low-molecular-weight protein-tyrosine-phosphatase correlate with age at onset of type 1 diabetes in a sex-specific manner, Metabolism: clinical and experimental. 2002 Apr;51(4):419-22.
[PubMed 11912546]
The data suggest that acid phosphatase genotype affects the age of onset and probably also the sex ratio in type 1 diabetes. Sex hormones might modulate the susceptibility to autoimmune diseases, including type 1 diabetes, through the influence of signal transduction pathways involved in immune functions. Elucidation of the molecular basis for gender differences in the course and severity of type 1 diabetes could have important implications for treatment as well, because there might be gender-specific effects in the response to immunotherapy.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01451 - Low molecular weight phosphotyrosine protein phosphatase
SCOP Domains: 52788 - Phosphotyrosine protein phosphatases I
ModBase Predicted Comparative 3D Structure on B5MCC7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.