ASCC1 (activating signal cointegrator 1 complex subunit 1)

2007-04-01  

Identity

HGNC
LOCATION
10q22.1
LOCUSID
ALIAS
ASC1p50,CGI-18,SMABF2,p50
FUSION GENES

Other Information

Locus ID:

NCBI: 51008
MIM: 614215
HGNC: 24268
Ensembl: ENSG00000138303

Variants:

dbSNP: 51008
ClinVar: 51008
TCGA: ENSG00000138303
COSMIC: ASCC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138303ENST00000317126Q8N9N2
ENSG00000138303ENST00000317126A0A024QZM0
ENSG00000138303ENST00000317168Q8N9N2
ENSG00000138303ENST00000342444Q8N9N2
ENSG00000138303ENST00000394915Q8N9N2
ENSG00000138303ENST00000394919Q8N9N2
ENSG00000138303ENST00000394919A0A024QZM0
ENSG00000138303ENST00000461369H0YE79
ENSG00000138303ENST00000486689H0YCB3
ENSG00000138303ENST00000524829E9PKM6
ENSG00000138303ENST00000525286H0YE76
ENSG00000138303ENST00000526751E9PL92
ENSG00000138303ENST00000527593E9PQZ6
ENSG00000138303ENST00000530394H0YER2
ENSG00000138303ENST00000530461E9PM82
ENSG00000138303ENST00000531048E9PR40
ENSG00000138303ENST00000532011E9PQ44
ENSG00000138303ENST00000533958E9PJM2
ENSG00000138303ENST00000672957A0A024QZM0

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
DNA RepairREACTOMER-HSA-73894
DNA Damage ReversalREACTOMER-HSA-73942
Reversal of alkylation damage by DNA dioxygenasesREACTOMER-HSA-73943
ALKBH3 mediated reversal of alkylation damageREACTOMER-HSA-112126

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
217916902011Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.30
196805562009Genetic variation in healthy oldest-old.20
190746422009Gastrin activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1.8
282183882017The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.6
265039562015A Truncated Variant of ASCC1, a Novel Inhibitor of NF-κB, Is Associated with Disease Severity in Patients with Rheumatoid Arthritis.5
299972532018RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage.5
303274472019Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.3

Citation

Dessen P

ASCC1 (activating signal cointegrator 1 complex subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46807/ascc1-(activating-signal-cointegrator-1-complex-subunit-1)