ACP5: Tartrate-Resistant Acid Phosphatase 5
A key enzyme in bone metabolism and immune regulation, associated with skeletal dysplasia and cancer.
Gene Information Card
| Symbol | ACP5 |
|---|---|
| Full Name | Acid Phosphatase 5, Tartrate Resistant |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 54 ncbi.nlm.nih.gov/gene/54 |
| Ensembl ID | ENSG00000102575 |
| UniProt ID | P13686 |
| OMIM ID | 171640 |
| HGNC ID | 124 |
| Aliases | TRAP, TRACP5, TR-AP, PP5C |
Description
The ACP5 gene encodes tartrate-resistant acid phosphatase (TRAP), a metalloenzyme expressed primarily in osteoclasts, macrophages, and dendritic cells. TRAP is involved in bone resorption, immune regulation, and iron metabolism. Mutations in ACP5 cause spondyloenchondrodysplasia (SPENCD), a skeletal dysplasia with immune dysfunction. Elevated TRAP activity is a biomarker for bone metastasis and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondyloenchondrodysplasia (SPENCD) | Loss-of-function mutations in ACP5 impair TRAP activity, leading to defective bone remodeling and immune dysregulation. | OMIM #607944; multiple case reports |
| Bone metastasis (e.g., breast, prostate cancer) | Increased TRAP secretion by osteoclasts and tumor cells promotes bone resorption and tumor growth. | ClinVar; COSMIC; literature review |
| Gaucher disease | Elevated serum TRAP levels reflect macrophage activation and bone involvement. | NCBI Gene; clinical studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Osteoclasts | High | Primary cell type for TRAP expression |
| Macrophages (M1) | Medium | Activated macrophages express TRAP |
| Dendritic cells | Medium | Immature dendritic cells show moderate expression |
| HEK293 | Low | Common cell line for recombinant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.155C>T (p.Pro52Leu) | Missense | Rare | Loss of function; associated with SPENCD |
| c.442G>A (p.Gly148Arg) | Missense | Rare | Loss of function; associated with SPENCD |
| c.665G>A (p.Arg222His) | Missense | Rare | Loss of function; associated with SPENCD |
| c.1048C>T (p.Arg350*) | Nonsense | Rare | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Most ACP5 mutations are loss-of-function, leading to reduced TRAP enzymatic activity and causing spondyloenchondrodysplasia.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ACP5.
Dominant Negative (DN)
No dominant-negative mutations have been described for ACP5.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003993 - acid phosphatase activity | • GO:0005737 - cytoplasm |
| • GO:0005764 - lysosome | • GO:0005886 - plasma membrane |
| • GO:0016787 - hydrolase activity | • GO:0045454 - cell redox homeostasis |
| • GO:0031402 - sodium ion transmembrane transport |
Pathways
• Osteoclast differentiation (RANKL/RANK signaling)
• Lysosome
• Iron metabolism and transport
Protein Summary
Tartrate-resistant acid phosphatase (TRAP) is a 35 kDa metalloenzyme that exists as two isoforms: TRAP 5a (sialylated) and TRAP 5b (non-sialylated). TRAP 5b is secreted by osteoclasts and is a serum marker of bone resorption. The enzyme catalyzes the hydrolysis of phosphomonoesters and is involved in reactive oxygen species (ROS) production, iron transport, and immune modulation. TRAP is also implicated in cancer progression and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACP5 Knockout HEK293 Cell Line | EDJ-KQ4000 | Human | 54 | Details Get a Quote |
| ACP5 Knockout HeLa Cell Line | EDJ-KQ52537 | Human | 54 | Details Get a Quote |
| ACP5 Knockout A-549 Cell Line | EDJ-KQ61019 | Human | 54 | Details Get a Quote |
| ACP5 Knockout HCT 116 Cell Line | EDJ-KQ69494 | Human | 54 | Details Get a Quote |
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