ACTMAP Gene - Actin Maturation Protease
Functional genomics and clinical relevance of ACTMAP
Gene Information Card
| Symbol | ACTMAP |
|---|---|
| Full Name | Actin Maturation Protease |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 116151 ncbi.nlm.nih.gov/gene/116151 |
| Ensembl ID | ENSG00000188010 |
| UniProt ID | Q5VY43 |
| OMIM ID | 618839 |
| HGNC ID | 28285 |
| Aliases | C19orf60, PRO2675 |
Description
ACTMAP (actin maturation protease) encodes a protease involved in the processing of actin, specifically the removal of the N-terminal methionine from actin proteins, a critical step in actin maturation and cytoskeletal dynamics. The gene is located on chromosome 19q13.33 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Moderate expression |
| HeLa | 9.8 | Low expression |
| K562 | 7.1 | Low expression |
| A549 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential start loss, uncertain significance |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • metallopeptidase activity (GO:0008237) | • proteolysis (GO:0006508) |
| • actin maturation (GO:0042987) | • cytoplasm (GO:0005737) |
Pathways
• Actin cytoskeleton regulation
Protein Summary
The ACTMAP protein (UniProt Q5VY43) is a metalloprotease that catalyzes the removal of the N-terminal methionine from actin, a key step in actin maturation. It is localized in the cytoplasm and is involved in cytoskeletal organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTMAP Knockout HEK293 Cell Line | EDJ-KQ12274 | Human | 284325 | Details Get a Quote |
| ACTMAP Knockout A-549 Cell Line | EDJ-KQ41075 | Human | 284325 | Details Get a Quote |
| ACTMAP Knockout HCT 116 Cell Line | EDJ-KQ41076 | Human | 284325 | Details Get a Quote |
| ACTMAP Knockout HeLa Cell Line | EDJ-KQ41077 | Human | 284325 | Details Get a Quote |
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