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UVSSA UV stimulated scaffold protein A [ Homo sapiens (human) ]

Gene ID: 57654, updated on 6-Feb-2016
Official Symbol
UVSSAprovided by HGNC
Official Full Name
UV stimulated scaffold protein Aprovided by HGNC
Primary source
HGNC:HGNC:29304
See related
Ensembl:ENSG00000163945; HPRD:17216; MIM:614632; Vega:OTTHUMG00000160167
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UVSS3; KIAA1530
Summary
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, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Orthologs
See UVSSA in Epigenomics, MapViewer
Location:
4p16.3
Exon count:
31
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (1345658..1388049)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1341043..1381837)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374347 Neighboring gene uncharacterized LOC105374346 Neighboring gene macrophage erythroblast attacher Neighboring gene uncharacterized LOC101928621 Neighboring gene cysteine rich PAK1 inhibitor Neighboring gene NK1 homeobox 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
UV-sensitive syndrome 3
MedGen: C3553328 OMIM: 614640 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Joint influence of small-effect genetic variants on human longevity.
NHGRI GWA Catalog
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Dual incision in TC-NER, organism-specific biosystem (from REACTOME)
    Dual incision in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), the oligonucleotide that contains the lesion is excised from the open bubbl...
  • Formation of TC-NER Pre-Incision Complex, organism-specific biosystem (from REACTOME)
    Formation of TC-NER Pre-Incision Complex, organism-specific biosystemFormation of TC-NER pre-incision complex is initiated when the RNA polymerase II (RNA Pol II) complex stalls at a DNA damage site. The stalling is caused by misincorporation of a ribonucleotide oppos...
  • Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystem (from REACTOME)
    Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), DNA polymerases delta or epsilon, or the Y family DNA polymerase kappa, fil...
  • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
    Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...
  • Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystem (from REACTOME)
    Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystemDNA damage in transcribed strands of active genes is repaired through a specialized nucleotide excision repair (NER) pathway known as transcription-coupled nucleotide excision repair (TC-NER). TC-NER...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1530, MGC117169, AC078852.1

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II core binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA repair TAS
Traceable Author Statement
more info
 
nucleotide-excision repair TAS
Traceable Author Statement
more info
 
protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription-coupled nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
chromosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
UV-stimulated scaffold protein A

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032753.1 RefSeqGene

    Range
    5001..45734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317934.1NP_001304863.1  UV-stimulated scaffold protein A

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL390128, BC021930, BC110331
    Conserved Domains (1) summary
    pfam09740
    Location:495605
    DUF2043; Uncharacterized conserved protein (DUF2043)
  2. NM_001317935.1NP_001304864.1  UV-stimulated scaffold protein A

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL390128, BC021930, BC110331, HY104489
    Conserved Domains (1) summary
    pfam09740
    Location:495605
    DUF2043; Uncharacterized conserved protein (DUF2043)
  3. NM_020894.3NP_065945.2  UV-stimulated scaffold protein A

    See identical proteins and their annotated locations for NP_065945.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AB040963, AC078852, AL390128, BC021930, BC110331, EL735271
    Consensus CDS
    CCDS33938.1
    UniProtKB/Swiss-Prot
    Q2YD98
    Related
    ENSP00000374501, OTTHUMP00000217693, ENST00000389851, OTTHUMT00000359480
    Conserved Domains (1) summary
    pfam09740
    Location:495605
    DUF2043; Uncharacterized conserved protein (DUF2043)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    1345658..1388049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513527.1XP_011511829.1  

    See identical proteins and their annotated locations for XP_011511829.1

    Conserved Domains (1) summary
    pfam09740
    Location:506616
    DUF2043; Uncharacterized conserved protein (DUF2043)
  2. XM_011513532.1XP_011511834.1  

  3. XM_011513531.1XP_011511833.1  

  4. XM_011513535.1XP_011511837.1  

  5. XM_011513538.1XP_011511840.1  

  6. XM_011513537.1XP_011511839.1  

  7. XM_011513536.1XP_011511838.1  

  8. XM_011513519.1XP_011511821.1  

    Conserved Domains (1) summary
    pfam09740
    Location:615725
    DUF2043; Uncharacterized conserved protein (DUF2043)
  9. XM_011513520.1XP_011511822.1  

    Conserved Domains (1) summary
    pfam09740
    Location:604714
    DUF2043; Uncharacterized conserved protein (DUF2043)
  10. XM_011513529.1XP_011511831.1  

    See identical proteins and their annotated locations for XP_011511831.1

    Conserved Domains (1) summary
    pfam09740
    Location:615706
    DUF2043; Uncharacterized conserved protein (DUF2043)
  11. XM_011513530.1XP_011511832.1  

    See identical proteins and their annotated locations for XP_011511832.1

    Conserved Domains (1) summary
    pfam09740
    Location:615706
    DUF2043; Uncharacterized conserved protein (DUF2043)
  12. XM_011513521.1XP_011511823.1  

    Conserved Domains (1) summary
    pfam09740
    Location:615725
    DUF2043; Uncharacterized conserved protein (DUF2043)
  13. XM_011513522.1XP_011511824.1  

    Conserved Domains (1) summary
    pfam09740
    Location:604714
    DUF2043; Uncharacterized conserved protein (DUF2043)
  14. XM_011513528.1XP_011511830.1  

    See identical proteins and their annotated locations for XP_011511830.1

    Conserved Domains (1) summary
    pfam09740
    Location:506616
    DUF2043; Uncharacterized conserved protein (DUF2043)
  15. XM_011513525.1XP_011511827.1  

    See identical proteins and their annotated locations for XP_011511827.1

    Conserved Domains (1) summary
    pfam09740
    Location:506616
    DUF2043; Uncharacterized conserved protein (DUF2043)
  16. XM_011513526.1XP_011511828.1  

    See identical proteins and their annotated locations for XP_011511828.1

    Conserved Domains (1) summary
    pfam09740
    Location:506616
    DUF2043; Uncharacterized conserved protein (DUF2043)
  17. XM_006713897.2XP_006713960.1  

    UniProtKB/Swiss-Prot
    Q2YD98
    Related
    ENSP00000425130, OTTHUMP00000217694, ENST00000511216, OTTHUMT00000359481
    Conserved Domains (1) summary
    pfam09740
    Location:495605
    DUF2043; Uncharacterized conserved protein (DUF2043)
  18. XM_011513524.1XP_011511826.1  

    See identical proteins and their annotated locations for XP_011511826.1

    Conserved Domains (1) summary
    pfam09740
    Location:506616
    DUF2043; Uncharacterized conserved protein (DUF2043)
  19. XM_011513523.1XP_011511825.1  

    See identical proteins and their annotated locations for XP_011511825.1

    Conserved Domains (1) summary
    pfam09740
    Location:506616
    DUF2043; Uncharacterized conserved protein (DUF2043)
  20. XM_005272290.3XP_005272347.1  

    UniProtKB/Swiss-Prot
    Q2YD98
    Related
    ENSP00000421741, OTTHUMP00000217695, ENST00000507531, OTTHUMT00000359482
    Conserved Domains (1) summary
    pfam09740
    Location:495605
    DUF2043; Uncharacterized conserved protein (DUF2043)
  21. XM_011513533.1XP_011511835.1  

    Conserved Domains (1) summary
    pfam09740
    Location:392502
    DUF2043; Uncharacterized conserved protein (DUF2043)
  22. XM_011513534.1XP_011511836.1  

    Conserved Domains (1) summary
    pfam09740
    Location:374484
    DUF2043; Uncharacterized conserved protein (DUF2043)

RNA

  1. XR_924982.1 RNA Sequence

  2. XR_924981.1 RNA Sequence

  3. XR_924984.1 RNA Sequence

  4. XR_924985.1 RNA Sequence

  5. XR_924979.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    1340917..1381652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)