Description: Homo sapiens activating signal cointegrator 1 complex subunit 1 (ASCC1), transcript variant 1, mRNA. RefSeq Summary (NM_001198799): 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]. Transcript (Including UTRs) Position: hg19 chr10:73,855,790-73,976,199 Size: 120,410 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chr10:73,862,127-73,973,056 Size: 110,930 Coding Exon Count: 11
ID:ASCC1_HUMAN DESCRIPTION: RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50; FUNCTION: 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. SUBUNIT: Part of TRIP4 complex, that contains ASCC1, ASCC2 and ASCC3. The TRIP4 complex interacts with ALKHB3. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Ubiquitous. DISEASE: Defects in ASCC1 may be a cause of Barrett esophagus (BE) [MIM:614266]. 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. Note=Genetic variants in ASCC1 have been found in individuals with Barrett esophagus and are thought to contribute to disease susceptibility. SIMILARITY: Contains 1 KH domain. SEQUENCE CAUTION: Sequence=CAI15908.1; Type=Erroneous gene model prediction;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 54791 - Eukaryotic type KH-domain (KH-domain type I)
ModBase Predicted Comparative 3D Structure on Q8N9N2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006307 DNA dealkylation involved in DNA repair GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated
AF132952 - Homo sapiens CGI-18 protein mRNA, complete cds. AY013290 - Homo sapiens ASC-1 complex subunit P50 mRNA, complete cds. AK096409 - Homo sapiens cDNA FLJ39090 fis, clone NT2RP7019445, highly similar to Activating signal cointegrator 1 complex subunit 1. AK094170 - Homo sapiens cDNA FLJ36851 fis, clone ASTRO2014363. AK023436 - Homo sapiens cDNA FLJ13374 fis, clone PLACE1000769, highly similar to Homo sapiens activating signal cointegrator 1 complex subunit 1 (ASCC1), mRNA. BC012291 - Homo sapiens activating signal cointegrator 1 complex subunit 1, mRNA (cDNA clone MGC:8735 IMAGE:3858865), complete cds. AK298302 - Homo sapiens cDNA FLJ55237 complete cds, highly similar to Homo sapiens activating signal cointegrator 1 complex subunit 1 (ASCC1), mRNA. HQ448286 - Synthetic construct Homo sapiens clone IMAGE:100071689; CCSB000582_01 activating signal cointegrator 1 complex subunit 1 (ASCC1) gene, encodes complete protein. KJ893774 - Synthetic construct Homo sapiens clone ccsbBroadEn_03168 ASCC1 gene, encodes complete protein. AB590918 - Synthetic construct DNA, clone: pFN21AE1841, Homo sapiens ASCC1 gene for activating signal cointegrator 1 complex subunit 1, without stop codon, in Flexi system. CU680272 - Synthetic construct Homo sapiens gateway clone IMAGE:100017092 5' read ASCC1 mRNA. AK093971 - Homo sapiens cDNA FLJ36652 fis, clone UTERU2000922. AK124364 - Homo sapiens cDNA FLJ42373 fis, clone UTERU2031295, highly similar to Homo sapiens CGI-18 protein (CGI-18). JD167271 - Sequence 148295 from Patent EP1572962. JD561134 - Sequence 542158 from Patent EP1572962. JD503859 - Sequence 484883 from Patent EP1572962. JD396492 - Sequence 377516 from Patent EP1572962. JD279142 - Sequence 260166 from Patent EP1572962. JD126115 - Sequence 107139 from Patent EP1572962. JD380669 - Sequence 361693 from Patent EP1572962. AL359339 - Homo sapiens EST from clone 628609, 5' end. JD496461 - Sequence 477485 from Patent EP1572962. JD337633 - Sequence 318657 from Patent EP1572962. JD463148 - Sequence 444172 from Patent EP1572962. JD352779 - Sequence 333803 from Patent EP1572962. JD046837 - Sequence 27861 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q8N9N2 (Reactome details) participates in the following event(s):
R-HSA-5657617 ALKBH3 associated with ASCC1:ASCC2:ASCC3 binds alkylated dsDNA containing 3-meC R-HSA-5657637 ALKBH3 associated with ASCC1:ASCC2:ASCC3 binds alkylated dsDNA containing 1-meA R-HSA-5657642 ALKBH3 in complex with ASCC1:ASCC2:ASCC3 binds alkylated DNA containing 1-etA R-HSA-112123 Oxidative demethylation of 1-meA damaged DNA By ALKBH3 R-HSA-112124 Oxidative demethylation of 3-meC damaged DNA By ALKBH3 R-HSA-112125 Oxidative dealkylation of 1-EtA damaged DNA by ABH3 R-HSA-112126 ALKBH3 mediated reversal of alkylation damage R-HSA-73943 Reversal of alkylation damage by DNA dioxygenases R-HSA-73942 DNA Damage Reversal R-HSA-73894 DNA Repair
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