KIAA1530

UV-stimulated scaffold protein A
Identifiers
Symbols	UVSSA ; KIAA1530; UVSS3
External IDs	OMIM: 614632 HomoloGene: 13807 GeneCards: UVSSA Gene
Gene ontology Molecular function • RNA polymerase II core binding • protein binding Cellular component • chromosome Biological process • transcription-coupled nucleotide-excision repair • response to UV • protein ubiquitination Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57654	71101
Ensembl	ENSG00000163945	ENSMUSG00000037355
UniProt	Q2YD98	Q9D479
RefSeq (mRNA)	NM_020894	NM_001081101
RefSeq (protein)	NP_065945	NP_001074570
Location (UCSC)	Chr 4: 1.35 – 1.39 Mb	Chr 5: 33.38 – 33.42 Mb
PubMed search

KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA.^[1] Mutations in this gene have been identified to cause the UV-sensitive syndrome and recently, its important role in Transcription-coupled repair has been identified.^[2]

Clinical relevance

Mutations in this gene cause UV-sensitive syndrome.^[3]

References

1. "Entrez Gene: KIAA1530". Retrieved 2012-05-07.
2. Schwertman P, Lagarou A, Dekkers DH, Raams A, van der Hoek AC, Laffeber C, Hoeijmakers JH, Demmers JA, Fousteri M, Vermeulen W, Marteijn JA (May 2012). "UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair". Nat. Genet. 44 (5): 598–602. doi:10.1038/ng.2230. PMID 22466611.
3. Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K (May 2012). "Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair". Nat. Genet. 44 (5): 593–7. doi:10.1038/ng.2228. PMID 22466612.

Further reading

• Yashin AI, Wu D, Arbeev KG, Ukraintseva SV (September 2010). "Joint influence of small-effect genetic variants on human longevity". Aging (Albany NY) 2 (9): 612–20. PMC 2984609. PMID 20834067.