SNAPC1
Small Nuclear RNA Activating Complex Subunit 1
Gene Information Card
| Symbol | SNAPC1 |
|---|---|
| Full Name | Small Nuclear RNA Activating Complex Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 6617 ncbi.nlm.nih.gov/gene/6617 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q16533 |
| OMIM ID | 602094 |
| HGNC ID | 11134 |
| Aliases | SNAP43, PTFgamma, SNAPc-43kDa |
Description
SNAPC1 encodes a subunit of the small nuclear RNA (snRNA) activating protein complex (SNAPc), which is required for transcription of snRNA genes by RNA polymerase II and III. The protein directly binds to the PSE (proximal sequence element) of snRNA promoters and recruits additional transcription factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No curated disease entries in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 7.1 | Low |
| Liver | 6.4 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 8.5 | Low expression |
| K562 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
Pathways
• snRNA transcription (Reactome: R-HSA-6807505)
Protein Summary
SNAPC1 is a 43 kDa subunit of the SNAPc complex. It contains a conserved SNAPc domain and is essential for the assembly of the pre-initiation complex on snRNA gene promoters. The protein interacts with other SNAPc subunits (SNAPC2, SNAPC3, SNAPC4, SNAPC5) and with TBP (TATA-box binding protein).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
