Gene Symbol | ASCC1 |
Entrez Gene ID | 51008 |
Full Name | activating signal cointegrator 1 complex subunit 1 |
Synonyms | ASC1p50,CGI-18,SMABF2,p50 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Barrett esophagus/esophageal adenocarcinoma, 614266 (3); ?Spinal muscular atrophy with congenital bone fractures 2, 616867 (3) |