ASCC1

Chr 10q22.1

activating signal cointegrator 1 complex subunit 1

Aliases:: CGI-18, ASC1p50, Em:AC022392.3, p50
MANE:: ENST00000672957.1

OMIM: 614215 ↗NCBI: 51008 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ASCC1 · Q8N9N2

v62025-08-01

Predicted Aligned Error matrix for ASCC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.4/ 100

Low

400 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)38%
Low(50–70)12%
Very low(< 50)33%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

spinal muscular atrophy with congenital bone fractures 2
0.71
proximal spinal muscular atrophy
0.51
spinal muscular atrophy
0.51
arthrogryposis
0.50
contracture
0.50
Hypotonia
0.50
Barrett esophagus
0.48
hereditary disease
0.47
fetal akinesia deformation sequence 1
0.43
prenatal-onset spinal muscular atrophy with congenital bone fractures
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Activating signal cointegrator 1 complex subunit 1

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, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction