KIAA1530

UVSSA
Identifiers
Aliases	UVSSA, KIAA1530, UVSS3, UV stimulated scaffold protein A
External IDs	OMIM: 614632; MGI: 1918351; HomoloGene: 13807; GeneCards: UVSSA; OMA:UVSSA - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p16.3 Start 1,345,691 bp[1] End 1,395,989 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 B1 Start 33,535,893 bp[2] 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 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
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KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA.^[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]

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