ACP7: Acid Phosphatase 7, Tartrate Resistant
A lysosomal acid phosphatase involved in bone resorption and iron metabolism
Gene Information Card
| Symbol | ACP7 |
|---|---|
| Full Name | Acid Phosphatase 7, Tartrate Resistant |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 54 ncbi.nlm.nih.gov/gene/54 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | P13686 |
| OMIM ID | 171640 |
| HGNC ID | 124 |
| Aliases | TRAP, TR-AP, TRACP, PAP, SPENCDI |
Description
ACP7 encodes tartrate-resistant acid phosphatase (TRAP), a lysosomal enzyme highly expressed in osteoclasts and macrophages. TRAP is involved in bone resorption, iron transport, and immune regulation. Mutations in ACP7 cause spondyloenchondrodysplasia with immune dysregulation (SPENCDI).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) | Loss-of-function mutations in ACP7 impair TRAP activity, leading to skeletal dysplasia and immune abnormalities. | OMIM #607944; PMID: 21129723 |
| Osteopetrosis (related) | Deficient TRAP activity may contribute to impaired bone resorption. | PMID: 10642597 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 5.1 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Osteoclasts (primary) | High | Key cell type for TRAP expression |
| Macrophages (THP-1) | Medium | Induced by differentiation |
| HEK293 | Low | Not endogenous |
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 SPENCDI |
| c.511G>A (p.Gly171Arg) | Missense | Rare | Loss of function; associated with SPENCDI |
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Loss of function; associated with SPENCDI |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations in ACP7 reduce or abolish TRAP enzymatic activity, leading to SPENCDI.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; SPENCDI is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003993 - acid phosphatase activity | • GO:0005764 - lysosome |
| • GO:0008152 - metabolic process | • GO:0045454 - cell redox homeostasis |
| • GO:0001503 - ossification |
Pathways
• Bone resorption (osteoclast signaling)
• Lysosomal degradation pathway
Protein Summary
Tartrate-resistant acid phosphatase (TRAP) is a 35 kDa lysosomal enzyme that hydrolyzes phosphomonoesters under acidic conditions. It exists as a monomer or dimer and contains a binuclear iron center essential for catalysis. TRAP is a marker for osteoclast activity and is involved in bone matrix degradation and iron recycling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACP7 Knockout HEK293 Cell Line | EDJ-KQ12262 | Human | 390928 | Details Get a Quote |
| ACP7 Knockout HCT 116 Cell Line | EDJ-KQ41059 | Human | 390928 | Details Get a Quote |
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