ASCC1

Chr 10

activating signal cointegrator 1 complex subunit 1

Also known as: ASC1p50, CGI-18, SMABF2, p50

NCBI Gene: 51008 ENSG00000138303 UniProt: Q8N9N2

The protein functions as a subunit of the activating signal cointegrator 1 (ASC-1) complex, which serves as a transcriptional coactivator for multiple transcription factors including AP-1, NF-kappa-B, and serum response factor, and also participates in DNA damage repair. Autosomal recessive mutations cause spinal muscular atrophy with congenital bone fractures, affecting both the neuromuscular system and skeletal development from birth. The gene shows relatively high tolerance to loss-of-function variants based on population data.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBarrett esophagus

UniProtSpinal muscular atrophy with congenital bone fractures 2

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.32

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429