• Gene id: 57654

Gene Summary

• Gene Symbol: UVSSA   Gene   UCSC   Ensembl
• Aliases: KIAA1530, UVSS3
• Gene name: UV stimulated scaffold protein A
• Alternate names: UV-stimulated scaffold protein A,
• Gene location: 4p16.3 (1341997: 1388048)     Exons: 27     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 614632

Protein Summary

• Protein general information: Q2YD98  
  • Name: UV stimulated scaffold protein A
  • Length: 709  
  • Mass: 80591
• Sequence:

  MDQKLSKLVEELTTSGEPRLNPEKMKELKKICKSSEEQLSRAYRLLIAQLTQEHAEIRLSAFQIVEELFVRSHQF
  RMLVVSNFQEFLELTLGTDPAQPLPPPREAAQRLRQATTRAVEGWNEKFGEAYKKLALGYHFLRHNKKVDFQDTN
  ARSLAERKREEEKQKHLDKIYQERASQAEREMQEMSGEIESCLTEVESCFRLLVPFDFDPNPETESLGMASGMSD
  ALRSSCAGQVGPCRSGTPDPRDGEQPCCSRDLPASAGHPRAGGGAQPSQTATGDPSDEDEDSDLEEFVRSHGLGS
  HKYTLDVELCSEGLKVQENEDNLALIHAARDTLKLIRNKFLPAVCSWIQRFTRVGTHGGCLKRAIDLKAELELVL
  RKYKELDIEPEGGERRRTEALGDAEEDEDDEDFVEVPEKEGYEPHIPDHLRPEYGLEAAPEKDTVVRCLRTRTRM
  DEEVSDPTSAAAQLRQLRDHLPPPSSASPSRALPEPQEAQKLAAERARAPVVPYGVDLHYWGQELPTAGKIVKSD
  SQHRFWKPSEVEEEVVNADISEMLRSRHITFAGKFEPVQHWCRAPRPDGRLCERQDRLKCPFHGKIVPRDDEGRP
  LDPEDRAREQRRQLQKQERPEWQDPELMRDVEAATGQDLGSSRYSGKGRGKKRRYPSLTNLKAQADTARARIGRK
  VFAKAAVRRVVAAMNRMDQKKHEKFSNQFNYALN

• Structural information:
  • Interpro: IPR018610  
  • PDB: 5XV8
  • PDBsum: 5XV8
  • STRING: ENSP00000374501
• Other Databases: GeneCards:  UVSSA  Malacards:  UVSSA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000993	RNA polymerase II complex binding	IBA	molecular function
GO:0005694	chromosome	IBA	cellular component
GO:0006283	transcription-coupled nucleotide-excision repair	IBA	biological process
GO:0009411	response to UV	IBA	biological process
GO:0000993	RNA polymerase II complex binding	IDA	molecular function
GO:0000993	RNA polymerase II complex binding	IDA	molecular function
GO:0016567	protein ubiquitination	IMP	biological process
GO:0009411	response to UV	IMP	biological process
GO:0009411	response to UV	IMP	biological process
GO:0009411	response to UV	IMP	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	IMP	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	IMP	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000993	RNA polymerase II complex binding	IMP	molecular function
GO:0009411	response to UV	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IDA	cellular component
GO:0005694	chromosome	IDA	cellular component

Diseases

Associated diseases	References
UV-sensitive syndrome	KEGG:H02131
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray