UVSSA
Sign in to saveAlso known as KIAA1530, UVSS3, UV stimulated scaffold protein A
KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA. 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.
Gene data
UVSSA- Name
- UV stimulated scaffold protein A
- Type
- protein-coding
- Position
- 1,345,691–1,395,989 (+)
- Aliases
- KIAA1530, UVSS3
- Ensembl
- ENSG00000163945
- RefSeq RNA
- NM_001317934.2, NM_001317935.2, NM_020894.4, XM_017008490.1, XM_017008492.3
- RefSeq protein
- NP_001304863.1, NP_001304864.1, NP_065945.2, XP_016863979.1, XP_016863981.1
The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
UV stimulated scaffold protein A
- Symbol
- UVSSA
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 4:1,345,691-1,395,989
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 13807
- exact match
- identifiers.org/ncbigene/57654
- genomic end
- 1395989
- genomic start
- 1345691
- cytogenetic location
- 4p16.3
Sources (4)
via Wikidata · CC0
~1 min read
Article
3 sectionsContents
- Clinical relevance
- References
- Further reading
KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA. 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.
==Clinical relevance== Mutations in this gene cause UV-sensitive syndrome.