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Rabbit Anti-KIAA1530 antibody
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 to help repair USLVinduced DNA damage. Defects in this gene can cause USLVsensitive syndrome 3. [provided by RefSeq, May 2012]
Function:
Factor involved in transcription-coupled nucleotide excision repair (TSLCNER) in response to UV damage. TSLCNER 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 TSLCNER complexes, preventing USLVinduced 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:0000269|PubMed:22466610, ECO:0000269|PubMed:22466611, ECO:0000269|PubMed:22466612}.
Subunit:
Interacts with the elongating form of RNA polymerase II (RNA pol IIo). Interacts with ERCC6, ERCC8 and USP7.
Subcellular Location:
Chromosome {ECO:0000269|PubMed:22466611, ECO:0000269|PubMed:22466612}. Note=Accumulates at UV DNA damage sites.
Post-translational modifications:
Monoubiquitinated: ubiquitination does not increase in response to UV. {ECO:0000269|PubMed:22466611}.
DISEASE:
USLVsensitive syndrome 3 (UVSS3) [MIM:614128]: An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. {ECO:0000269|PubMed:22466610, ECO:0000269|PubMed:22466611, ECO:0000269|PubMed:22466612}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the UVSSA family.
SWISS:
Q2YD98
Gene ID:
57654
Database links:
Entrez Gene: 57654 Human
Omim: 614632 Human
SwissProt: Q2YD98 Human
Unigene: 380475 Human
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