KIAA1530

KIAA1530
Identifikatori
Aliasi	UVSSA
Vanjski ID-jevi	OMIM: 614632 MGI: 1918351 HomoloGene: 13807 GeneCards: UVSSA
Lokacija gena (čovjek)
Hrom.	Hromosom 4 (čovjek)
Kraj	1,395,989 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	33,577,098 bp
Ontologija gena
Molekularna funkcija	• RNA polymerase II complex binding; • GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• nukleoplazma; • hromosom;
Biološki proces	• transcription-coupled nucleotide-excision repair; • response to UV; • protein ubiquitination; • cellular response to DNA damage stimulus; • GO:0100026 Popravka DNK;
	Izvori:Amigo / QuickGO
Ortolozi
	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
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

KIAA1530, znan i kao UVSSA jest protein koji je kod ljudi kodiran genom KIAA1530 sa hromosoma 4.^[5]

Aminokiselinska sekvenca[uredi | uredi izvor]

Utvrđeno je da mutacije ovog gena uzrokuju UV-senzitivni sindrom i nedavno je identificirana njegova važna uloga u popravkana vezanim uz transkripcijutranskripciju.^[7]^[8]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163945 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037355 - Ensembl, maj 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". Pristupljeno 7. 5. 2012.
^ "UniProt, Q2YD98" (jezik: engleski). Pristupljeno 29. 10. 2021.
^ Schwertman P, Lagarou A, Dekkers DH, Raams A, van der Hoek AC, Laffeber C, Hoeijmakers JH, Demmers JA, Fousteri M, Vermeulen W, Marteijn JA (maj 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 (maj 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.