KIAA1530

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]
End	1,395,989 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	33,577,098 bp[2]
RNA expression pattern
	Top expressed in
	pancreatic ductal cell; ; corpus epididymis; ; caput epididymis; ; right uterine tube; ; sperm; ; tibia; ; nipple; ; sural nerve; ; visceral pleura; ; parietal pleura;
	Top expressed in
	hand; ; ciliary body; ; prostate; ; pituitary gland; ; vas deferens; ; retinal pigment epithelium; ; foot; ; pineal gland; ; parotid gland; ; seminal vesicula;
	More reference expression data
	n/a
Gene ontology
Molecular function	RNA polymerase II complex 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

GRCh38: Ensembl release 89: ENSG00000163945 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000037355 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"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. S2CID 5486230.
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.

KIAA1530

Clinical relevance

References

Further reading