ASCC1 (activating signal cointegrator 1 complex subunit 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 51008
Gene name Activating signal cointegrator 1 complex subunit 1
Gene symbol ASCC1
Synonyms (NCBI Gene)
ASC1p50CGI-18SMABF2p50
Chromosome 10
Chromosome location 10q22.1
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 (
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
SNP ID Visualize variation Clinical significance Consequence
rs145940742 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs146370051 T>C Benign, pathogenic, likely-benign Coding sequence variant, missense variant, non coding transcript variant
rs183415577 G>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs747595523 C>T Pathogenic Splice donor variant
rs753324947 ->C Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
345
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (345)
miRTarBase ID miRNA Experiments Reference
MIRT714021 hsa-miR-6776-3p HITS-CLIP 19536157
MIRT714020 hsa-miR-224-5p HITS-CLIP 19536157
MIRT714019 hsa-miR-500b-3p HITS-CLIP 19536157
MIRT714018 hsa-miR-6840-3p HITS-CLIP 19536157
MIRT615731 hsa-miR-548n HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 25416956, 28514442, 29997253, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 12077347, 26924529, 29997253
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614215 24268 ENSG00000138303
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N9N2
Protein name Activating signal cointegrator 1 complex subunit 1 (ASC-1 complex subunit p50) (Trip4 complex subunit p50)
Protein 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,
PDB 8TLY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00013 KH_1 92 → 149 KH domain Domain
PF10469 AKAP7_NLS 161 → 378 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12077347}.
Sequence
Sequence length 400
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    ALKBH3 mediated reversal of alkylation damage
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arthrogryposis multiplex congenita Likely pathogenic; Pathogenic rs747595523 RCV000855457
ASCC1-related disorder Likely pathogenic; Pathogenic rs753324947, rs2493337844 RCV004579541
RCV003419044
Barrett esophagus Pathogenic rs138245920 RCV001706772
Centronuclear myopathy Pathogenic rs866050664 RCV004586997
Show/Hide Unknown Diseases (12)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs7086647 RCV005917152
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA Benign; Likely benign rs146370051 RCV000024125
Cholangiocarcinoma Benign rs7086647 RCV005917159
Familial cancer of breast Likely benign rs113569227 RCV005921342
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 21791690
Arthrogryposis Associate 33931933
Barrett Esophagus Associate 21791690
Blood Coagulation Disorders Inherited Associate 33931933
Bone Diseases Associate 37455927
Femoral Fractures Distal Associate 37455927
Fractures Bone Associate 38143368
Head and Neck Neoplasms Associate 35460558
Microphthalmia Syndromic 10 Associate 37455927
Muscle Hypotonia Associate 37455927