| Tbio | Activating signal cointegrator 1 complex subunit 1 |
Enhances NF-kappa-B, SRF and AP1 transactivation. 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.
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Barrett Esophagus | 16 | 0.0 | 0.0 |
| SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 | 1 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Esophageal carcinoma | 16 |
| Somatic mutation | 61 |
| Disease | Target Count | P-value |
|---|---|---|
| ependymoma | 4679 | 9.5e-11 |
| ovarian cancer | 8520 | 7.2e-06 |
| osteosarcoma | 7950 | 4.9e-04 |
| psoriasis | 6694 | 1.3e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neurodegenerative disease | 414 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Distal arthrogryposis | 42 | 3.474 | 1.7 |
| Disease | Target Count |
|---|---|
| Barrett's esophagus | 182 |
| Disease | log2 FC | p |
|---|---|---|
| ependymoma | 1.300 | 9.5e-11 |
| osteosarcoma | 1.517 | 4.9e-04 |
| ovarian cancer | 1.500 | 7.2e-06 |
| psoriasis | -1.100 | 1.3e-03 |
MEVLRPQLIRIDGRNYRKNPVQEQTYQHEEDEEDFYQGSMECADEPCDAYEVEQTPQGFRSTLRAPSLLY 1 - 70 NLIHLNTSNDCGFQKITLDCQNIYTWKSRHIVGKRGDTRKKIEMETKTSISIPKPGQDGEIVITGQHRNG 71 - 140 VISARTRIDVLLDTFRRKQPFTHFLAFFLNEVEVQEGFLRFQEEVLAKCSMDHGVDSSIFQNPKKLHLTI 141 - 210 GMLVLLSEEEIQQTCEMLQQCKEEFINDISGGKPLEVEMAGIEYMNDDPGMVDVLYAKVHMKDGSNRLQE 211 - 280 LVDRVLERFQASGLIVKEWNSVKLHATVMNTLFRKDPNAEGRYNLYTAEGKYIFKERESFDGRNILKSFA 281 - 350 LLPRLEYNDAISAHCNLCLPGSSDSPASASQVAGITGVSDAYSQSLPGKS 351 - 400 //
