KIAA1530

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]

UVSSA
Identifiers
Aliases	UVSSA, KIAA1530, UVSS3, UV stimulated scaffold protein A
External IDs	OMIM: 614632 MGI: 1918351 HomoloGene: 13807 GeneCards: UVSSA
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p16.3 Start 1,347,208 bp[1] End 1,395,989 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 B1 Start 33,378,549 bp[2] End 33,419,754 bp[2]
Gene ontology Molecular function • RNA polymerase II core binding • GO:0001948 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
Species	Human	Mouse
Entrez	57654	71101
Ensembl	ENSG00000163945	ENSMUSG00000037355
UniProt	Q2YD98	Q9D479
RefSeq (mRNA)	NM_020894 NM_001317934 NM_001317935	NM_001081101 NM_027674
RefSeq (protein)	NP_001304863 NP_001304864 NP_065945	NP_001074570 NP_081950
Location (UCSC)	Chr 4: 1.35 – 1.4 Mb	Chr 5: 33.38 – 33.42 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Clinical relevance

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

References

1. GRCh38: Ensembl release 89: ENSG00000163945 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037355 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: KIAA1530". Retrieved 2012-05-07.
6. 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. S2CID 5486230.
7. 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. S2CID 5094505.

Further reading

• Yashin AI, Wu D, Arbeev KG, Ukraintseva SV (September 2010). "Joint influence of small-effect genetic variants on human longevity". Aging. 2 (9): 612–20. doi:10.18632/aging.100191. PMC 2984609. PMID 20834067.