Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51008
Gene name Gene Name - the full gene name approved by the HGNC.
Activating signal cointegrator 1 complex subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASCC1
Synonyms (NCBI Gene) Gene synonyms aliases
ASC1p50, CGI-18, SMABF2, p50
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614215 24268 ENSG00000138303
Protein
UniProt ID 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.
  Reactome
    ALKBH3 mediated reversal of alkylation damage
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinal Muscular Atrophy With Congenital Bone Fractures spinal muscular atrophy with congenital bone fractures 2 rs1389098934, rs753324947, rs747595523, rs183415577, rs866050664 N/A
Akinesia Fetal akinesia deformation sequence 1 rs747595523 N/A
Centronuclear Myopathy centronuclear myopathy rs866050664 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Sarcoidosis Sarcoidosis N/A N/A GWAS
Associations from Text Mining Disease 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