ASCC1

ASCC1 is 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), nu

Full Name

Activating Signal Cointegrator 1 Complex Subunit 1

Function

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.

Biological Process

DNA dealkylation involved in DNA repair Source: Reactome
Regulation of transcription, DNA-templated Source: MGI

Cellular Location

Nucleus; Nucleus speckle. Colocalizes with PRPF8 in nuclear speckles in the absence of DNA damage.

Involvement in disease

Barrett esophagus (BE): A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes.
Spinal muscular atrophy with congenital bone fractures 2 (SMABF2): An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures.