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
AliasesUVSSA, KIAA1530, UVSS3, UV stimulated scaffold protein A
External IDsOMIM: 614632 MGI: 1918351 HomoloGene: 13807 GeneCards: UVSSA
Gene location (Human)
Chr.Chromosome 4 (human)[1]
Band4p16.3Start1,347,208 bp[1]
End1,395,989 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 5: 33.38 – 33.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.