UVSSA

Protein-coding gene in the species Homo sapiens

UVSSA

Identifiers

UVSSA , KIAA1530, UVSS3, UV stimulated scaffold protein A

External IDs

OMIM: 614632; MGI: 1918351; GeneCards: UVSSA

Gene location (Human)
Chromosome 4 (human)
Chr.	Chromosome 4 (human) ^[1]
Chromosome 4 (human) Genomic location for UVSSA Genomic location for UVSSA
Band	4p16.3	Start	1,345,691 bp ^[1]
Band	4p16.3	End	1,395,989 bp ^[1]

Gene location (Mouse)
Chromosome 5 (mouse)
Chr.	Chromosome 5 (mouse)^[2]
Chromosome 5 (mouse) Genomic location for UVSSA Genomic location for UVSSA
Band	5\|5 B1	Start	33,535,893 bp ^[2]
Band	5\|5 B1	End	33,577,098 bp ^[2]

RNA expression pattern

Bgee

Human	Mouse (ortholog)
Top expressed in pancreatic ductal cell corpus epididymis caput epididymis mucosa of ileum tail of epididymis buccal mucosa cell right uterine tube sperm skin of arm tibia	Top expressed in hand lumbar subsegment of spinal cord ciliary body prostate pituitary gland lobe of prostate vas deferens retinal pigment epithelium mesenteric lymph nodes skin of external ear
More reference expression data

BioGPS

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

Databases

NCBI: entry; OMA: entry

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: 33.54 – 33.58 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human View/Edit Mouse

UV-stimulated scaffold protein A is a protein that in humans that is encoded by the UVSSA gene (previously KIAA1530).^[5] This protein is involved in DNA repair in response to UV radiation damage.^[5] In particular, it interacts with nucleotide excision repair proteins (specifically TC-NER subunits) along with RNA polymerase II subunits that have stalled.^[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

[edit ]

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

References

[edit ]

1 2 3 GRCh38: Ensembl release 89: ENSG00000163945 – Ensembl, May 2017
1 2 3 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.
1 2 3 "Entrez Gene: KIAA1530" . Retrieved 2012年05月07日.
↑ 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.

Clinical relevance

References

Further reading