Aliases for ASCC1 Gene
External Ids for ASCC1 Gene
Previous GeneCards Identifiers for ASCC1 Gene
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]
GeneCards Summary for ASCC1 Gene
ASCC1 (Activating Signal Cointegrator 1 Complex Subunit 1) is a Protein Coding gene. Diseases associated with ASCC1 include Spinal Muscular Atrophy With Congenital Bone Fractures 2 and Barrett Esophagus. Among its related pathways are DNA Damage Reversal and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding.
UniProtKB/Swiss-Prot Summary for ASCC1 Gene
Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction.