ASCC1: Activating Signal Cointegrator 1 Complex Subunit 1
A key component of the ASC-1 complex involved in transcriptional coactivation and DNA repair
Gene Information Card
| Symbol | ASCC1 |
|---|---|
| Full Name | Activating Signal Cointegrator 1 Complex Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 51008 ncbi.nlm.nih.gov/gene/51008 |
| Ensembl ID | ENSG00000138185 |
| UniProt ID | Q8N9N2 |
| OMIM ID | 614215 |
| HGNC ID | 24268 |
| Aliases | ASC1p, CGI-09, p50, MGC13170 |
Description
ASCC1 encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex, which functions as a transcriptional coactivator by bridging transcription factors and the basal transcription machinery. The ASC-1 complex also plays a role in DNA repair, particularly in the alkylation damage response pathway. ASCC1 contains a KH domain that binds RNA and is involved in post-transcriptional regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal muscular atrophy with congenital bone fractures (SMABF) | Loss-of-function mutations in ASCC1 disrupt the ASC-1 complex, impairing DNA repair and transcriptional regulation, leading to neuromuscular and skeletal abnormalities. | OMIM #614215; ClinVar |
| Alkylation repair deficiency | ASCC1 is required for the repair of alkylated DNA bases via the ALKBH3-dependent pathway; deficiency leads to increased sensitivity to alkylating agents. | PubMed; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Adrenal gland | 10.2 | Medium |
| Thyroid | 9.8 | Medium |
| Brain | 7.1 | Low |
| Liver | 6.5 | Low |
| Heart | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Embryonic kidney; high expression |
| HeLa | 12.1 | Cervical carcinoma; moderate expression |
| HepG2 | 8.7 | Hepatocellular carcinoma; moderate expression |
| K562 | 6.4 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; associated with SMABF |
| c.487_488del (p.Leu163Valfs*12) | Frameshift | Rare | Loss of function; associated with SMABF |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with SMABF |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations in ASCC1 result in truncated or absent protein, impairing ASC-1 complex assembly and function, leading to spinal muscular atrophy with congenital bone fractures.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ASCC1.
Dominant Negative (DN)
No dominant-negative mutations have been described for ASCC1.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity (GO:0003712) | • DNA repair (GO:0006281) |
| • nucleus (GO:0005634) | • RNA binding (GO:0003723) |
| • protein N-terminus binding (GO:0047485) | • nucleoplasm (GO:0005654) |
Pathways
• Alkylation damage repair via ALKBH3-ASCC complex
• Transcriptional coactivation by ASC-1 complex
Protein Summary
ASCC1 is a 50 kDa protein that contains a KH domain for RNA binding and a coiled-coil region for protein-protein interactions. It is a core component of the ASC-1 complex, which includes ASCC2, ASCC3, and TRIP4. The complex mediates transcriptional coactivation by linking transcription factors to the basal machinery and is also essential for the repair of alkylated DNA lesions through the ALKBH3-dependent demethylation pathway. ASCC1 is ubiquitously expressed with highest levels in testis and adrenal gland.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASCC1 Knockout HEK293 Cell Line | EDJ-KQ2376 | Human | 51008 | Details Get a Quote |
| ASCC1 Knockout A-549 Cell Line | EDJ-KQ22839 | Human | 51008 | Details Get a Quote |
| ASCC1 Knockout HCT 116 Cell Line | EDJ-KQ22840 | Human | 51008 | Details Get a Quote |
| ASCC1 Knockout HeLa Cell Line | EDJ-KQ22841 | Human | 51008 | Details Get a Quote |
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