PROCA1 Gene - Proline-Rich Basic Coiled-Coil 1
Comprehensive genomic and proteomic analysis of PROCA1
Gene Information Card
| Symbol | PROCA1 |
|---|---|
| Full Name | Proline-Rich Basic Coiled-Coil 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 147007 ncbi.nlm.nih.gov/gene/147007 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 618519 |
| HGNC ID | 33797 |
| Aliases | C17orf49, FLJ25333, MGC12966 |
Description
PROCA1 (Proline-Rich Basic Coiled-Coil 1) is a protein-coding gene located on chromosome 17q21.31. The encoded protein contains a proline-rich region and a coiled-coil domain, suggesting roles in protein-protein interactions and cellular signaling. Its exact biological function is not fully characterized, but it is expressed in various tissues and may be involved in cell cycle regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.3 | Low |
| Adrenal gland | 6.1 | Low |
| Brain | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 10.5 | Moderate expression |
| K562 | 7.8 | Low expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• No curated pathways available
Protein Summary
The PROCA1 protein (UniProt Q8N6T3) is 244 amino acids long, containing a proline-rich region and a coiled-coil domain. It is predicted to localize to the nucleus and cytoplasm and may participate in protein-protein interactions. Its precise molecular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PROCA1 Knockout HEK293 Cell Line | EDJ-KQ10539 | Human | 147011 | Details Get a Quote |
| PROCA1 Knockout A-549 Cell Line | EDJ-KQ37974 | Human | 147011 | Details Get a Quote |
| PROCA1 Knockout HeLa Cell Line | EDJ-KQ37975 | Human | 147011 | Details Get a Quote |
| PROCA1 Knockout HCT 116 Cell Line | EDJ-KQ75457 | Human | 147011 | Details Get a Quote |
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