Version 5.4
Homo sapiens Protein: UVSSA
Summary
InnateDB Protein IDBP-482751.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UVSSA
Protein Name KIAA1530
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000421741
InnateDB Gene IDBG-6670 (UVSSA)
Protein Structure
UniProt Annotation
Function Factor involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage. TC-NER allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Acts by promoting stabilization of ERCC6 by recruiting deubiquitinating enzyme USP7 to TC-NER complexes, preventing UV-induced degradation of ERCC6 by the proteasome. Interacts with the elongating form of RNA polymerase II (RNA pol IIo) and facilitates its ubiquitination at UV damage sites, leading to promote RNA pol IIo backtracking to allow access to the nucleotide excision repair machinery. Not involved in processing oxidative damage. {ECO:0000269PubMed:22466610, ECO:0000269PubMed:22466611, ECO:0000269PubMed:22466612}.
Subcellular Localization Chromosome {ECO:0000269PubMed:22466611, ECO:0000269PubMed:22466612}. Note=Accumulates at UV DNA damage sites.
Disease Associations UV-sensitive syndrome 3 (UVSS3) [MIM:614640]: An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. {ECO:0000269PubMed:22466610, ECO:0000269PubMed:22466611, ECO:0000269PubMed:22466612}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000993 RNA polymerase II core binding
GO:0005515 protein binding
Biological Process
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0009411 response to UV
GO:0016567 protein ubiquitination
Cellular Component
GO:0005694 chromosome
Protein Structure and Domains
PDB ID
InterPro IPR008942 ENTH/VHS
IPR018610 Protein of unknown function DUF2043
PFAM PF09740
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q2YD98
PhosphoSite PhosphoSite-Q2YD98
TrEMBL
UniProt Splice Variant
Entrez Gene 57654
UniGene Hs.380475
RefSeq XP_005272347
HUGO HGNC:29304
OMIM 614632
CCDS CCDS33938
HPRD 17216
IMGT
EMBL AB040963 AC078852 AC118281 AK292661 BC021930 BC110331 BC140901
GenPept AAH21930 AAI10332 AAI40902 BAA96054 BAF85350

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca