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

    Gene ID: 57654, updated on 9-Jun-2013
    Official Symbol
    UVSSAprovided by HGNC
    Official Full Name
    UV-stimulated scaffold protein Aprovided by HGNC
    Primary source
    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 to help repair UV-induced DNA damage. Defects in this gene can cause UV-sensitive syndrome 3. [provided by RefSeq, May 2012]
    Location :
    4p16.3
    Sequence :
    Chromosome: 4; NC_000004.11 (1341104..1381837)
    See UVSSA in Epigenomics, MapViewer

    Chromosome 4 - NC_000004.11Genomic Context describing neighboring genes Neighboring gene CTBP1 antisense RNA 2 (head to head) Neighboring gene macrophage erythroblast attacher Neighboring gene cysteine-rich PAK1 inhibitor Neighboring gene NK1 homeobox 1

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. KIAA1530 protein is recruited by Cockayne syndrome complementation group protein A (CSA) to participate in transcription-coupled repair (TCR). Fei J, et al. J Biol Chem, 2012 Oct 12. PMID 22902626.
    2. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. Zhang X, et al. Nat Genet, 2012 May. PMID 22466612.
    3. UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair. Schwertman P, et al. Nat Genet, 2012 May. PMID 22466611.
    4. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nakazawa Y, et al. Nat Genet, 2012 May. PMID 22466610.
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.

    See all (9) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. KIAA1530 is an important player in TCR but also lead to a better understanding of the molecular mechanism underlying UV(s)S syndrome.
      Title: KIAA1530 protein is recruited by Cockayne syndrome complementation group protein A (CSA) to participate in transcription-coupled repair (TCR).
    2. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
      Title: Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
    3. Mutations in UVSSA cause UV-sensitive syndrome and recruits USP7 to regulate transcription-coupled repair.
      Title: UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair.
    4. Mutations in the UVSSA gene is associated with UV-sensitive syndrome.
      Title: Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
    Submit: New GeneRIF Correction

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:121689 BioGRID:107457 CDK7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121689 BioGRID:108009 DDB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121689 BioGRID:108380 ERCC2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121689 BioGRID:108383 ERCC3    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:121689 BioGRID:107581 ERCC8    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:121689 BioGRID:109220 GTF2H1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121689 BioGRID:115088 SETD1A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121689 BioGRID:116983 SIRT1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121689 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121689 BioGRID:113622 USP7    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 

    Markers

    Genotypes

    Homology

    Clone Names

    • KIAA1530, MGC117169

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II core binding IDA
    Inferred from Direct Assay
    more info
    		  
    RNA polymerase II core binding IMP
    Inferred from Mutant Phenotype
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    Process Evidence Code Pubs
    protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		  
    response to UV IMP
    Inferred from Mutant Phenotype
    more info
    		  
    transcription-coupled nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    		  
    Component Evidence Code Pubs
    chromosomal part IDA
    Inferred from Direct Assay
    more info
    		  
    Preferred Names
    UV-stimulated scaffold protein A
    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_020894.2 → NP_065945.2  UV-stimulated scaffold protein A

      Status: REVIEWED

      Source sequence(s)
      AB040963, AC078852, AC118281, BC110331, EL735271
      Consensus CDS
      CCDS33938.1
      UniProtKB/Swiss-Prot
      Q2YD98
      Related
      ENSP00000374501, OTTHUMP00000217693, ENST00000389851, OTTHUMT00000359480
      Conserved Domains (1) summary
      pfam09740
      Location:495 – 605
      Blast Score: 510
      DUF2043; Uncharacterized conserved protein (DUF2043)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000004.11 Reference GRCh37.p10 Primary Assembly

      Range
      1341104..1381837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000136.1 Alternate HuRef

      Range
      1308628..1349495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018915.1 Alternate CHM1_1.0

      Range
      1327678..1368412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01019363.1 (51726..92593) None
    genomic AC078852.5 (59625..84981) None
    genomic AC118281.4 None
    genomic AMYH01013859.1 (1645..42379) None
    genomic CH471131.2 EAW82584.1
    mRNA AB040963.1 BAA96054.1
    mRNA AK292661.1 BAF85350.1
    mRNA AL110229.1 None
    mRNA AL390128.1 CAH10662.1
    mRNA BC021930.1 AAH21930.1
    mRNA BC110331.1 AAI10332.1
    mRNA BC140901.1 AAI40902.1
    mRNA EL735271.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2YD98.2 GenPept UniProtKB/Swiss-Prot:Q2YD98

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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      Supplemental Content

      Table of contents

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      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
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        Genome records having the gene annotated on corresponding genomic reference sequence.
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        GTR associated with a gene
      • HomoloGene
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        Link to related Nucleotide entry
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        Related Probe entry
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      • PubChem Compound
        PubChem Compounds
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        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
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        Link to Nucleotide RefSeq RNAs
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        Link to Nucleotide RefSeqGenes
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        Related SNP records
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        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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