| 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 | P-value |
|---|---|---|
| posterior fossa group B ependymoma | 1530 | 3.04344731647495E-10 |
| ovarian cancer | 8492 | 7.16925041060432E-6 |
| osteosarcoma | 7933 | 4.91389783364546E-4 |
| psoriasis | 6685 | 0.00125424288619345 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neurodegenerative disease | 383 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Distal arthrogryposis | 45 | 3.583 | 1.8 |
| Disease | Target Count |
|---|---|
| Barrett's esophagus | 185 |
| Disease | Target Count |
|---|---|
| Barrett Esophagus | 20 |
| Spinal muscular atrophy with congenital bone fractures 2 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| psoriasis | -1.100 | 0.001 |
| osteosarcoma | 1.517 | 0.000 |
| posterior fossa group B ependymoma | 1.500 | 0.000 |
| ovarian cancer | 1.500 | 0.000 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA EggNOG Inparanoid |
| Platypus | OMA EggNOG Inparanoid |
| Anole lizard | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| Zebrafish | OMA EggNOG Inparanoid |
| C. elegans | OMA EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 26503956 | ASCC1 inhibits NF-kappaB activation and a truncated and inactive variant of ASCC1 is associated with a more severe disease, which could have clinical value for assessing the progression and prognosis of Rheumatoid Arthritis. |
| 21791690 | Three major genes, MSR1, ASCC1, and CTHRC1 were associated with Barrett esophagus/esophageal adenocarcinoma |
| 19680556 | Observational study of gene-disease association. (HuGE Navigator) |
| 19074642 | Gastrin activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1. |
| 16385451 | Observational study of gene-disease association. (HuGE Navigator) |
MEVLRPQLIRIDGRNYRKNPVQEQTYQHEEDEEDFYQGSMECADEPCDAYEVEQTPQGFRSTLRAPSLLY 1 - 70 NLIHLNTSNDCGFQKITLDCQNIYTWKSRHIVGKRGDTRKKIEMETKTSISIPKPGQDGEIVITGQHRNG 71 - 140 VISARTRIDVLLDTFRRKQPFTHFLAFFLNEVEVQEGFLRFQEEVLAKCSMDHGVDSSIFQNPKKLHLTI 141 - 210 GMLVLLSEEEIQQTCEMLQQCKEEFINDISGGKPLEVEMAGIEYMNDDPGMVDVLYAKVHMKDGSNRLQE 211 - 280 LVDRVLERFQASGLIVKEWNSVKLHATVMNTLFRKDPNAEGRYNLYTAEGKYIFKERESFDGRNILKSFA 281 - 350 LLPRLEYNDAISAHCNLCLPGSSDSPASASQVAGITGVSDAYSQSLPGKS 351 - 400 //
| PMID | Year | Title |
|---|---|---|
| 26924529 | 2016 | Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. |
| 26503956 | 2015 | A Truncated Variant of ASCC1, a Novel Inhibitor of NF-?B, Is Associated with Disease Severity in Patients with Rheumatoid Arthritis. |
| 25416956 | 2014 | A proteome-scale map of the human interactome network. |
| 22055184 | 2011 | DNA unwinding by ASCC3 helicase is coupled to ALKBH3-dependent DNA alkylation repair and cancer cell proliferation. |
| 21791690 | 2011 | Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma. |
| 21269460 | 2011 | Initial characterization of the human central proteome. |
| 19680556 | 2009 | Genetic variation in healthy oldest-old. |
| 19074642 | 2009 | Gastrin activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1. |
| 17207965 | 2007 | hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. |
| More... |
