KIAA1530

UVSSA
Identifiers
Aliases	UVSSA, KIAA1530, UVSS3, UV stimulated scaffold protein A
External IDs	MGI: 1918351 HomoloGene: 13807 GeneCards: UVSSA
Gene location (Human)
Chr.	Chromosome 4 (human)[1]
End	1,395,992 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	33,419,754 bp[2]
Gene ontology
Molecular function	• RNA polymerase II core binding; • protein binding;
Cellular component	• nucleoplasm; • chromosome;
Biological process	• transcription-coupled nucleotide-excision repair; • response to UV; • protein ubiquitination; • cellular response to DNA damage stimulus; • DNA repair;
	Sources:Amigo / QuickGO
Orthologs
	57654
	71101
	ENSG00000163945
	ENSMUSG00000037355
	Q2YD98
	Q9D479
	NM_020894; NM_001317934; NM_001317935
	NM_001081101; NM_027674
	NP_001304863; NP_001304864; NP_065945
	NP_001074570; NP_081950
	Wikidata
View/Edit Human	View/Edit Mouse

KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA.^[5] 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.^[6]

Clinical relevance

Mutations in this gene cause UV-sensitive syndrome.^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000163945 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037355 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ "Entrez Gene: KIAA1530". Retrieved 2012-05-07.
↑ 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.
↑ 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.

KIAA1530

Clinical relevance

References

Further reading