KIAA1530

UVSSA
Identifiers
Aliases UVSSA, KIAA1530, UVSS3, UV stimulated scaffold protein A
External IDs MGI: 1918351 HomoloGene: 13807 GeneCards: UVSSA
Orthologs
Species Human Mouse
Entrez

57654

71101

Ensembl

ENSG00000163945

ENSMUSG00000037355

UniProt

Q2YD98

Q9D479

RefSeq (mRNA)

NM_020894
NM_001317934
NM_001317935

NM_001081101

RefSeq (protein)

NP_065945.2
NP_001304863.1
NP_001304864.1

NP_001074570.1

Location (UCSC) Chr 4: 1.35 – 1.39 Mb Chr 5: 33.38 – 33.42 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA.[3] 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.[4]

Clinical relevance

Mutations in this gene cause UV-sensitive syndrome.[5]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ "Entrez Gene: KIAA1530". Retrieved 2012-05-07.
  4. ↑ 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.
  5. ↑ 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


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