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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SMABF2
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
GO:0005634 Component Nucleus IDA 12077347, 26924529
GO:0005654 Component Nucleoplasm TAS
GO:0005667 Component Transcription regulator complex IDA 12077347
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
28749478
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Esophageal carcinoma Esophageal carcinoma rs121912967
Patent ductus arteriosus Patent ductus arteriosus rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Unknown
Disease term Disease name Evidence References Source
Barrett esophagus Barrett Esophagus, NON RARE IN EUROPE: Barrett esophagus ClinVar
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Peripheral axonal neuropathy Peripheral axonal neuropathy ClinVar
Dementia Dementia GWAS
Associations from Text Mining
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