UVSSA (UV stimulated scaffold protein A)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57654
Gene name Gene Name - the full gene name approved by the HGNC.
UV stimulated scaffold protein A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UVSSA
Synonyms (NCBI Gene) Gene synonyms aliases
KIAA1530, UVSS3
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.3
Summary Summary of gene provided in NCBI Entrez Gene.
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, an
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs387907163 A>G,T Pathogenic Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs387907164 T>C Pathogenic Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs778975867 G>- Pathogenic Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT018930 hsa-miR-335-5p Microarray 18185580
MIRT046480 hsa-miR-15b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0000993 Function RNA polymerase II complex binding IBA
GO:0000993 Function RNA polymerase II complex binding IDA 22466611, 22466612
GO:0000993 Function RNA polymerase II complex binding IMP 22466610
GO:0005515 Function Protein binding IPI 22466611, 22466612, 32296183
GO:0005634 Component Nucleus IDA 32355176
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614632 29304 ENSG00000163945
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q2YD98
Protein name UV-stimulated scaffold protein A
Protein function Factor involved in transcription-coupled nucleotide excision repair (TC-NER), a mechanism that rapidly removes RNA polymerase II-blocking lesions from the transcribed strand of active genes (PubMed:22466610, PubMed:22466611, PubMed:22466612, Pub
PDB 5XV8 , 7OO3 , 7OOP , 7OPC , 7OPD , 8B3D , 8B3G , 8QH5 , 9BZ0 , 9ER2 , 9FD2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09740 DUF2043 497 → 603 Uncharacterized conserved protein (DUF2043) Family
Sequence 
MDQKLSKLVEELTTSGEPRLNPEKMKELKKICKSSEEQLSRAYRLLIAQLTQEHAEIRLS
AFQIVEELFVRSHQFRMLVVSNFQEFLELTLGTDPAQPLPPPREAAQRLRQATTRAVEGW
NEKFGEAYKKLALGYHFLRHNKKVDFQDTNARSLAERKREEEKQKHLDKIYQERASQAER
EMQEMSGEIESCLTEVESCFRLLVPFDFDPNPETESLGMASGMSDALRSSCAGQVGPCRS
GTPDPRDGEQPCCSRDLPASAGHPRAGGGAQPSQTATGDPSDEDEDSDLEEFVRSHGLGS
HKYTLDVELCSEGLKVQENEDNLALIHAARDTLKLIRNKFLPAVCSWIQRFTRVGTHGGC
LKRAIDLKAELELVLRKYKELDIEPEGGERRRTEALGDAEEDEDDEDFVEVPEKEGYEPH
IPDHLRPEYGLEAAPEKDTVVRCLRTRTRMDEEVSDPTSAAAQLRQLRDHLPPPSSASPS
RALPEPQEAQKLAAERARAPVVPYGVDLHYWGQELPTAGKIVKSDSQHRFWKPSEVEEEV
VNADISEMLRSRHITFAGKFEPVQHWCRAPRPDGRLCERQDRLKCPFHGKIVPRDDEGRP
LDPEDRAREQRRQLQKQERPEWQDPELMRDVEAATGQDLGSSRYSGKGRGKKRRYPSLTN
LKAQADTARARIGRKVFAKAAVRRVVAAMNRMDQKKHEKFSNQFNYALN
Sequence length 709
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Nucleotide excision repair   Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
UV-Sensitive Syndrome uv-sensitive syndrome 3 rs387907163, rs778975867, rs387907164 N/A
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 33482886
Margins of Excision Associate 29323787
Neoplasms Associate 35254895
Protein S Deficiency Associate 22466610
UV Sensitive Syndrome Associate 22466610, 29323787