Recombinant Human Activating signal cointegrator 1 complex subunit 1 (ASCC1)

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

Subcellular Location

Nucleus; Nucleus speckle

Disease Association

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. [The gene represented in this entry may be involved in disease pathogenesis] | 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. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Ubiquitous

Subunit

Identified in the ASCC complex that contains ASCC1, ASCC2 and ASCC3 (PubMed:29144457, PubMed:29997253). Interacts directly with ASCC3 (PubMed:29997253). The ASCC complex interacts with ALKBH3 (PubMed:22055184, PubMed:29144457). Part of the ASC-1 complex, that contains TRIP4, ASCC1, ASCC2 and ASCC3 (PubMed:12077347). Interacts with CSRP1 (PubMed:26924529). Interacts with ZCCHC4 (PubMed:31799605)

• Jung D.-J. et al. Novel transcription coactivator complex containing activating signal cointegrator 1. — Mol. Cell. Biol. (2002)
• Lai C.-H. et al. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. — Genome Res. (2000)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Deloukas P. et al. The DNA sequence and comparative analysis of human chromosome 10. — Nature (2004)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Almeida-Vega S. et al. Gastrin activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1. — Am. J. Physiol. (2009)
• Burkard T.R. et al. Initial characterization of the human central proteome. — BMC Syst. Biol. (2011)