ACP1: Acid Phosphatase 1 – Genetic Variants and Disease Associations
A comprehensive biomedical resource on ACP1, covering gene structure, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | ACP1 |
|---|---|
| Full Name | Acid Phosphatase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p25.3 |
| NCBI Gene ID | 52 ncbi.nlm.nih.gov/gene/52 |
| Ensembl ID | ENSG00000143727 |
| UniProt ID | P24666 |
| OMIM ID | 171500 |
| HGNC ID | 123 |
| Aliases | LMPTP, HAAP, cLMWPTP |
Description
ACP1 encodes a low molecular weight protein tyrosine phosphatase (LMPTP) involved in cellular signaling, metabolism, and immune regulation. The enzyme dephosphorylates phosphotyrosine residues, modulating pathways such as insulin signaling, cell growth, and inflammation. Genetic variants in ACP1 are associated with altered enzyme activity and have been linked to autoimmune diseases, metabolic disorders, and cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid arthritis | ACP1 variants influence T-cell receptor signaling and immune response modulation. | OMIM #171500; PMID: 23583980 |
| Type 2 diabetes | Reduced ACP1 activity impairs insulin receptor dephosphorylation, affecting glucose homeostasis. | OMIM #171500; PMID: 19851446 |
| Breast cancer | ACP1 overexpression correlates with tumor progression; LMPTP promotes oncogenic signaling. | COSMIC; PMID: 25691885 |
| Systemic lupus erythematosus | ACP1 polymorphisms alter B-cell activation and autoantibody production. | OMIM #171500; PMID: 22076441 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 6.5 | Low |
| Brain | 4.2 | Low |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 14.5 | Leukemia cell line; high expression |
| HeLa | 9.8 | Cervical carcinoma; moderate expression |
| A549 | 7.3 | Lung carcinoma; moderate expression |
| MCF7 | 11.2 | Breast cancer; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.172C>T (p.Arg58Cys) | Missense | 0.02% (gnomAD) | Reduced phosphatase activity; associated with autoimmune risk |
| c.205G>A (p.Glu69Lys) | Missense | 0.01% (gnomAD) | Altered substrate specificity; linked to metabolic syndrome |
| c.44C>T (p.Thr15Met) | Missense | 0.005% (gnomAD) | Loss of function; reported in cancer cell lines |
Mutation functional classification
Loss of Function (LOF)
p.Arg58Cys and p.Thr15Met reduce catalytic activity, impairing dephosphorylation of signaling proteins.
Gain of Function (GOF)
No confirmed gain-of-function variants reported in ClinVar or COSMIC.
Dominant Negative (DN)
Not described for ACP1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003993 – acid phosphatase activity | • GO:0004725 – protein tyrosine phosphatase activity |
| • GO:0005737 – cytoplasm | • GO:0005829 – cytosol |
| • GO:0016311 – dephosphorylation | • GO:0048015 – phosphatidylinositol-mediated signaling |
Pathways
• Insulin signaling pathway (Reactome: R-HSA-74752)
• T-cell receptor signaling pathway (Reactome: R-HSA-202403)
• ErbB signaling pathway (Reactome: R-HSA-1250196)
Protein Summary
ACP1 encodes the low molecular weight protein tyrosine phosphatase (LMPTP), a 158-amino-acid enzyme that dephosphorylates phosphotyrosine residues on target proteins. It exists in two major isoforms (fast and slow) with different catalytic efficiencies. LMPTP regulates insulin receptor signaling, T-cell activation, and cell proliferation. Dysregulation of ACP1 expression or activity contributes to autoimmune diseases, diabetes, and cancer. The protein is ubiquitously expressed, with highest levels in testis and blood cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACP1 Knockout HEK293 Cell Line | EDJ-KQ3999 | Human | 52 | Details Get a Quote |
| ACP1 Knockout A-549 Cell Line | EDJ-KQ26319 | Human | 52 | Details Get a Quote |
| ACP1 Knockout HCT 116 Cell Line | EDJ-KQ26320 | Human | 52 | Details Get a Quote |
| ACP1 Knockout HeLa Cell Line | EDJ-KQ26321 | Human | 52 | Details Get a Quote |
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