ASCC3

Chr 6q16.3

activating signal cointegrator 1 complex subunit 3

Aliases:: RNAH, ASC1p200, dJ121G13.4, dJ467N11.1
MANE:: ENST00000369162.7

OMIM: 614217 ↗NCBI: 10973 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ASCC3 · Q8N3C0

v62025-08-01

Predicted Aligned Error matrix for ASCC3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.8/ 100

Confident

2,202 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)54%
Low(50–70)10%
Very low(< 50)9%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual developmental disorder, autosomal recessive 81
0.70
major depressive disorder
0.42
smoking initiation
0.41
nephrolithiasis
0.38
insomnia
0.30
sleep apnea syndrome
0.30
congenital myopathy
0.30
Abnormality of the skeletal system
0.30
glomerulonephritis
0.29
bipolar disorder
0.29

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

Protein function (UniProt)

Activating signal cointegrator 1 complex subunit 3

ATPase involved both in DNA repair and rescue of stalled ribosomes (PubMed:22055184, PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773). 3'-5' DNA helicase involved in repair of alkylated DNA: promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3, enabling ALKBH3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions (PubMed:22055184). Also involved in activation of the ribosome quality control (RQC) pathway, a pathway that degrades nascent peptide chains during problematic translation (PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773). Drives the splitting of stalled ribosomes that are ubiquitinated in a ZNF598-dependent manner, as part of the ribosome quality control trigger (RQT) complex (PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347)