Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



UVSSA Gene

protein-coding   GIFtS: 41
GCID: GC04P001341

UV-Stimulated Scaffold Protein A

(Previous name: KIAA1530)
(Previous symbol: KIAA1530)
  See UVSSA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
UV-Stimulated Scaffold Protein A1 2
KIAA15301 2 3 5
UVSS32 5

External Ids:    HGNC: 293041   Entrez Gene: 576542   Ensembl: ENSG000001639457   OMIM: 6146325   UniProtKB: Q2YD983   

Export aliases for UVSSA gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for UVSSA 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 to help repair UV-induced DNA damage. Defects in this gene can cause UV-sensitive
syndrome 3. (provided by RefSeq, May 2012)

GeneCards Summary for UVSSA Gene:
UVSSA (UV-stimulated scaffold protein A) is a protein-coding gene. Diseases associated with UVSSA include uv-sensitive syndrome 3, and uv-sensitive syndrome 1. GO annotations related to this gene include RNA polymerase II core binding.

UniProtKB/Swiss-Prot: UVSSA_HUMAN, Q2YD98
Function: Factor involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage.
TC-NER allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active
genes. Acts by promoting stabilization of ERCC6 by recruiting deubiquitinating enzyme USP7 to TC-NER complexes,
preventing UV-induced degradation of ERCC6 by the proteasome. Interacts with the elongating form of RNA
polymerase II (RNA pol IIo) and facilitates its ubiquitination at UV damage sites, leading to promote RNA pol IIo
backtracking to allow access to the nucleotide excision repair machinery. Not involved in processing oxidative
damage




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000004.12  NT_006051.19  NC_018915.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for UVSSA
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for UVSSA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UVSSA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

UVSSA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UVSSA gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P001341:  view genomic region     (about GC identifiers)

Start:
1,341,054 bp from pter      End:
1,381,837 bp from pter
Size:
40,784 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: UVSSA_HUMAN, Q2YD98 (See protein sequence)
Recommended Name: UV-stimulated scaffold protein A  
Size: 709 amino acids; 80591 Da
Subunit: Interacts with the elongating form of RNA polymerase II (RNA pol IIo). Interacts with ERCC6, ERCC8 and
USP7
Sequence caution: Sequence=BAA96054.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K9E6 B2RU11 Q8WTX4 Q9P1Z8
Alternative splicing: 2 isoforms:  Q2YD98-1   Q2YD98-2   

Explore the universe of human proteins at neXtProt for UVSSA: NX_Q2YD98

Explore proteomics data for UVSSA at MOPED

Post-translational modifications: 

  • Monoubiquitinated: ubiquitination does not increase in response to UV1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See UVSSA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065945.2  
    ENSEMBL proteins: 
     ENSP00000425130   ENSP00000374501   ENSP00000421741   ENSP00000423340   ENSP00000427701  
     ENSP00000422795  

    UVSSA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for UVSSA
    OriGene Protein Over-expression Lysate for UVSSA
    OriGene MassSpec for UVSSA
    OriGene Custom Protein Services for UVSSA
    GenScript Custom Purified and Recombinant Proteins Services for UVSSA
    Novus Biologicals UVSSA Protein
    Novus Biologicals UVSSA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for UVSSA 

    UVSSA Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for UVSSA
    Novus Biologicals UVSSA Antibodies
    Abcam antibodies for UVSSA
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for UVSSA
    Search LSBio for Antibodies for UVSSA

    UVSSA Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for UVSSA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UVSSA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for UVSSA 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR018610 DUF2043

    Graphical View of Domain Structure for InterPro Entry Q2YD98

    ProtoNet protein and cluster: Q2YD98

    UniProtKB/Swiss-Prot: UVSSA_HUMAN, Q2YD98
    Similarity: Belongs to the UVSSA family


    Find genes that share domains with UVSSA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UVSSA_HUMAN, Q2YD98
    Function: Factor involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage.
    TC-NER allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active
    genes. Acts by promoting stabilization of ERCC6 by recruiting deubiquitinating enzyme USP7 to TC-NER complexes,
    preventing UV-induced degradation of ERCC6 by the proteasome. Interacts with the elongating form of RNA
    polymerase II (RNA pol IIo) and facilitates its ubiquitination at UV damage sites, leading to promote RNA pol IIo
    backtracking to allow access to the nucleotide excision repair machinery. Not involved in processing oxidative
    damage

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000993RNA polymerase II core binding IMP--
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with UVSSA           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UVSSA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UVSSA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UVSSA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UVSSA

    miRNA
    Products:
        
    miRTarBase miRNAs that target UVSSA:
    hsa-mir-335-5p (MIRT018930), hsa-mir-15b-5p (MIRT046480)

    Block miRNA regulation of human, mouse, rat UVSSA using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate UVSSA
    SwitchGear 3'UTR luciferase reporter plasmidUVSSA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UVSSA
    Predesigned siRNA for gene silencing in human, mouse, rat UVSSA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UVSSA

    Clone
    Products:
         
    OriGene clones in human, mouse for UVSSA (see all 8)
    OriGene ORF clones in mouse, rat for UVSSA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for UVSSA
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UVSSA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UVSSA

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for UVSSA
    Browse ESI BIO Cell Lines and PureStem Progenitors for UVSSA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UVSSA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    UVSSA_HUMAN, Q2YD98: Chromosome. Note=Accumulates at UV DNA damage sites

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005694chromosome IDA--

    Find genes that share ontologies with UVSSA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UVSSA
    Interactions:

        Search GeneGlobe Interaction Network for UVSSA

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for UVSSA (ENSP000003745014) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP7ENSP000003435354STRING: ENSP00000343535
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006283transcription-coupled nucleotide-excision repair IMP--
    GO:0009411response to UV IMP--
    GO:0016567protein ubiquitination IMP--

    Find genes that share ontologies with UVSSA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UVSSA



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for UVSSA gene: 
    NM_020894.2  

    Unigene Cluster for UVSSA:

    UV-stimulated scaffold protein A
    Hs.380475  [show with all ESTs]
    Unigene Representative Sequence: NM_020894
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000511216 ENST00000389851(uc003gde.4 uc010ibv.3) ENST00000507531
    ENST00000505716 ENST00000511563 ENST00000512728 ENST00000503548 ENST00000507422

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat UVSSA using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate UVSSA
    SwitchGear 3'UTR luciferase reporter plasmidUVSSA 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for UVSSA
    Predesigned siRNA for gene silencing in human, mouse, rat UVSSA
    Clone
    Products:
         
    OriGene clones in human, mouse for UVSSA (see all 8)
    OriGene ORF clones in mouse, rat for UVSSA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for UVSSA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UVSSA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UVSSA
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for UVSSA
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat UVSSA
      QuantiTect SYBR Green Assays in human, mouse, rat UVSSA
      QuantiFast Probe-based Assays in human, mouse, rat UVSSA

    Additional mRNA sequence: 

    AB040963.1 AK292661.1 AL110229.1 BC021930.1 BC110331.1 BC140901.1 

    8 DOTS entries:

    DT.40218508  DT.92418151  DT.100777568  DT.95072358  DT.95213253  DT.121220147  DT.407710  DT.70101562 

    Selected AceView cDNA sequences (see all 60):

    R70766 BQ775260 BM673105 AL390128 AW450575 BF509460 AA227817 AI697892 
    BC021930 AI743059 BX100303 AA481135 BG760777 BF437936 AA234730 AA227991 
    CD638623 AA234799 BI907243 AI630779 AI239715 AL110229 BX110088 AA806760 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    UVSSA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    UVSSA Expression
    About this image

    UVSSA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UVSSA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.380475
        Custom PCR Arrays for UVSSA
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for UVSSA
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat UVSSA
    QuantiTect SYBR Green Assays in human, mouse, rat UVSSA
    QuantiFast Probe-based Assays in human, mouse, rat UVSSA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UVSSA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for UVSSA gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uvssa1 , 5 RIKEN cDNA 4933407H18 gene5
    UV stimulated scaffold protein A1
    76.91(n)1
    72.55(a)1
      5 (17.60 cM)5
    711011  NM_001081101.21  NP_001074570.11 
     333785515 
    chicken
    (Gallus gallus)
    Aves UVSSA1 UV-stimulated scaffold protein A 63.74(n)
    61.58(a)
      422903  XM_420845.4  XP_420845.4 
    lizard
    (Anolis carolinensis)
    Reptilia UVSSA6
    UV-stimulated scaffold protein A
    54(a)
    1 ↔ 1
    GL343447.1(302315-351826)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia uvssa1 UV-stimulated scaffold protein A 61.87(n)
    53.85(a)
      100135095  NM_001113834.1  NP_001107306.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.271062 Danio rerio cDNA clone IMAGE3815294, partial cds 74.31(n)    BC056778.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK742.26
    Protein ZK742.2 (ZK742.2) mRNA, complete cds
    24(a)
    1 ↔ 1
    V(7801465-7803842) WBGene00022812


    ENSEMBL Gene Tree for UVSSA (if available)
    TreeFam Gene Tree for UVSSA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for UVSSA gene
    1 SIMAP similar gene for UVSSA using alignment to 2 protein entries:     UVSSA_HUMAN (see all proteins):
    DKFZp434C189

    Find genes that share paralogs with UVSSA           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for UVSSA (see all 1383)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0677984
    UV-sensitive syndrome 3 (UVSS3)4--see VAR_0677982 C R mis40--------
    rs1917600381,2
    --1325605(+) AGGATC/GCAGGG 1 -- us2k10--------
    rs1389141051,2
    C--1325613(+) GGGCA-/GGCCCA
    GGCACGGT
    GGCCC
    1 -- us2k10--------
    rs1830111681,2
    --1325661(+) TCCCAA/GCACTT 1 -- us2k10--------
    rs1869794491,2
    --1325694(+) CACCTG/TAAGTC 1 -- us2k10--------
    rs1468507861,2
    --1325776(+) GTGGTG/TGCGGG 1 -- us2k10--------
    rs1918729181,2
    C--1325779(+) GTGGCA/GGGTGA 1 -- us2k10--------
    rs1825393831,2
    C--1325787(+) TGACTA/GTCATC 1 -- us2k10--------
    rs1877185461,2
    --1325814(+) CTGAGA/GCAGGA 1 -- us2k10--------
    rs1923837341,2
    --1325871(+) TGCCAC/GTGCAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UVSSA (1341054 - 1381837 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for UVSSA: --
    Human Gene Mutation Database (HGMD): UVSSA
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UVSSA
    DNA2.0 Custom Variant and Variant Library Synthesis for UVSSA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 614632   
    OMIM disorders: 614640  
    UniProtKB/Swiss-Prot: UVSSA_HUMAN, Q2YD98
  • UV-sensitive syndrome 3 (UVSS3) [MIM:614640]: An autosomal recessive disorder characterized by cutaneous
    photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 3 diseases for UVSSA:    
    About MalaCards
    uv-sensitive syndrome 3    uv-sensitive syndrome 1    multiple chemical sensitivity


    Find genes that share disorders with UVSSA           About GenesLikeMe


    Export disorders for UVSSA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for UVSSA gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with UVSSA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair. (PubMed id 22466611)1, 2, 3 Schwertman P.... Marteijn J.A. (Nat. Genet. 2012)
    2. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. (PubMed id 22466612)1, 2, 3 Zhang X.... Tanaka K. (Nat. Genet. 2012)
    3. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. (PubMed id 22466610)1, 2, 3 Nakazawa Y.... Ogi T. (Nat. Genet. 2012)
    4. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    5. [Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome]. (PubMed id 23631307)1 Ogi T....Nagayama Y. (Seikagaku 2013)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. UVSSA and USP7, a new couple in transcription-coupled DNA repair. (PubMed id 23760561)1 Schwertman P....Marteijn J.A. (Chromosoma 2013)
    8. KIAA1530 protein is recruited by Cockayne syndrome complementation group protein A (CSA) to participate in transcription-coupled repair (TCR). (PubMed id 22902626)1 Fei J. and Chen J. (J. Biol. Chem. 2012)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Joint influence of small-effect genetic variants on human longevity. (PubMed id 20834067)1 Yashin A.I....Ukraintseva S.V. (Aging (Albany NY) 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 57654 HGNC: 29304 AceView: KIAA1530 Ensembl:ENSG00000163945 euGenes: HUgn57654
    ECgene: UVSSA H-InvDB: UVSSA

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1530

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for UVSSA Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for UVSSA gene:
    Search GeneIP for patents involving UVSSA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for UVSSA  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for UVSSA  
     OriGene MassSpec something-or-other for UVSSA   OriGene clones in human, mouse for UVSSA  
     OriGene qSTAR qPCR primer pairs in human, mouse for UVSSA   OriGene Purified Protein for UVSSA  
     OriGene ORF clones in mouse, rat for UVSSA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for UVSSA   OriGene Custom Protein Services for UVSSA  

     
     
     Block miRNA regulation of human, mouse, rat UVSSA using miScript Target Protectors SeqTarget long-range PCR primers for resequencing UVSSA
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UVSSA Predesigned siRNA for gene silencing in human, mouse, rat UVSSA
     QuantiFast Probe-based Assays in human, mouse, rat UVSSA QuantiTect SYBR Green Assays in human, mouse, rat UVSSA
     Custom PCR Arrays for UVSSA Search Chromatin IP Primers for UVSSA
     Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat UVSSA Search GeneGlobe Interaction Network for UVSSA
     Search Regulatory tfbs for UVSSA
     GenScript Custom Purified and Recombinant Proteins Services for UVSSA GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for UVSSA
     GenScript Custom Assay Services for UVSSA GenScript Custom overexpressing Cell Line Services for UVSSA
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for UVSSA
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     UVSSA antibodies
     UVSSA proteins
     UVSSA lysates
     Antibodies for UVSSA
     See all of Abcam's Antibodies, Kits and Proteins for UVSSA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for UVSSA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UVSSA
     SwitchGear 3'UTR luciferase reporter plasmids for UVSSA
     Browse SwitchGear Promoter luciferase reporter plasmids for UVSSA
     ThermoFisher Antibodies for UVSSA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UVSSA
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UVSSA
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UVSSA
     Search LSBio for Antibodies for UVSSA
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for UVSSA
      Search eBioscience for proteins for UVSSA
      Search eBioscience for elisas for UVSSA
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      UVSSA gene at Home site.
    Version: 3.12.202 14 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4