UVSSA

Chr 4p16.3

UV stimulated scaffold protein A

MANE:: ENST00000389851.10

OMIM: 614632 ↗NCBI: 57654 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

UVSSA · Q2YD98

v62025-08-01

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

Mean pLDDT

73.6/ 100

Confident

709 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)35%
Low(50–70)19%
Very low(< 50)17%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cutaneous photosensitivity with a likely genetic cause
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Hydroa vacciniforme
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

UV-sensitive syndrome
0.67
UV-sensitive syndrome 3
0.65
neurodegenerative disease
0.40
Abnormality of the skeletal system
0.31
sunburn
0.29
musculoskeletal system disorder
0.28
estrogen-receptor positive breast cancer
0.24
ventricular septal defect
0.20
migraine disorder
0.19
vertebral disorder
0.15

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

Protein function (UniProt)

UV-stimulated scaffold protein A

Factor involved in transcription-coupled nucleotide excision repair (TC-NER), a mechanism that rapidly removes RNA polymerase II-blocking lesions from the transcribed strand of active genes (PubMed:22466610, PubMed:22466611, PubMed:22466612, PubMed:32142649, PubMed:32355176, PubMed:34526721, PubMed:38316879, PubMed:38600235, PubMed:38600236). Acts as a key adapter that promotes recruitment of factors involved in TC-NER (PubMed:22466611, PubMed:22466612, PubMed:32142649, PubMed:32355176, PubMed:34526721, PubMed:38600235, PubMed:38600236). Facilitates the ubiquitination of the elongating form of RNA polymerase II (RNA pol IIo) at DNA damage sites, thereby promoting RNA pol IIo backtracking and access by the TC-NER machinery to lesion sites (PubMed:22466611, PubMed:32142649). Also promotes stabilization of ERCC6/CSB by recruiting deubiquitinating enzyme USP7 to TC-NER complexes, preventing UV-induced degradation of ERCC6 by the proteasome (PubMed:22466611, PubMed:22466612). Mediates the recruitment of the TFIIH complex and other factors that are required for nucleotide excision repair to RNA polymerase II (PubMed:32142649, PubMed:32355176, PubMed:34526721, PubMed:38600235, PubMed:38600236). Also required to inactivate stalled RNA polymerase II by blocking the access of TCEA1/TFIIS, thereby preventing reactivation of RNA polymerase II (PubMed:38316879). Not involved in processing oxidative damage (PubMed:22466612)