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Aliases for UVSSA Gene

Aliases for UVSSA Gene

  • UV-Stimulated Scaffold Protein A 2 3
  • KIAA1530 2 3 4 6
  • UVSS3 3 6

External Ids for UVSSA Gene

Previous Symbols for UVSSA Gene

  • KIAA1530

Summaries for UVSSA Gene

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. GO annotations related to this gene include RNA polymerase II core binding.

UniProtKB/Swiss-Prot for UVSSA Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UVSSA Gene

Genomics for UVSSA Gene

Genomic Location for UVSSA Gene

Start:
1,347,255 bp from pter
End:
1,388,049 bp from pter
Size:
40,795 bases
Orientation:
Plus strand

Genomic View for UVSSA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UVSSA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UVSSA Gene

No data available for Regulatory Elements for UVSSA Gene

Proteins for UVSSA Gene

  • Protein details for UVSSA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2YD98-UVSSA_HUMAN
    Recommended name:
    UV-stimulated scaffold protein A
    Protein Accession:
    Q2YD98
    Secondary Accessions:
    • A8K9E6
    • B2RU11
    • Q8WTX4
    • Q9P1Z8

    Protein attributes for UVSSA Gene

    Size:
    709 amino acids
    Molecular mass:
    80591 Da
    Quaternary structure:
    • Interacts with the elongating form of RNA polymerase II (RNA pol IIo). Interacts with ERCC6, ERCC8 and USP7.
    SequenceCaution:
    • Sequence=BAA96054.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for UVSSA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UVSSA Gene

Proteomics data for UVSSA Gene at MOPED

Post-translational modifications for UVSSA Gene

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

Other Protein References for UVSSA Gene

No data available for DME Specific Peptides for UVSSA Gene

Domains for UVSSA Gene

Protein Domains for UVSSA Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q2YD98

UniProtKB/Swiss-Prot:

UVSSA_HUMAN
Family:
  • Belongs to the UVSSA family.:
    • Q2YD98
genes like me logo Genes that share domains with UVSSA: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for UVSSA Gene

Function for UVSSA Gene

Molecular function for UVSSA Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for UVSSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 RNA polymerase II core binding IMP 22466610
GO:0005515 protein binding IPI 22466611
genes like me logo Genes that share ontologies with UVSSA: view

miRNA for UVSSA Gene

miRTarBase miRNAs that target UVSSA

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for UVSSA Gene

Localization for UVSSA Gene

Subcellular locations from UniProtKB/Swiss-Prot for UVSSA Gene

Chromosome. Note=Accumulates at UV DNA damage sites.

Gene Ontology (GO) - Cellular Components for UVSSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005694 chromosome IDA 22466611
genes like me logo Genes that share ontologies with UVSSA: view

No data available for Subcellular locations from COMPARTMENTS for UVSSA Gene

Pathways for UVSSA Gene

SuperPathways for UVSSA Gene

No Data Available

Interacting Proteins for UVSSA Gene

Gene Ontology (GO) - Biological Process for UVSSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006283 transcription-coupled nucleotide-excision repair IMP 22466610
GO:0009411 response to UV IMP 22466610
GO:0016567 protein ubiquitination IMP 22466610
genes like me logo Genes that share ontologies with UVSSA: view

No data available for Pathways by source for UVSSA Gene

Transcripts for UVSSA Gene

Unigene Clusters for UVSSA Gene

UV-stimulated scaffold protein A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UVSSA Gene

No ASD Table

Relevant External Links for UVSSA Gene

GeneLoc Exon Structure for
UVSSA
ECgene alternative splicing isoforms for
UVSSA

Expression for UVSSA Gene

mRNA expression in normal human tissues for UVSSA Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UVSSA Gene

SOURCE GeneReport for Unigene cluster for UVSSA Gene Hs.380475

genes like me logo Genes that share expressions with UVSSA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UVSSA Gene

Orthologs for UVSSA Gene

This gene was present in the common ancestor of animals.

Orthologs for UVSSA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UVSSA 35
  • 98.78 (n)
  • 99.01 (a)
UVSSA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1530 35
  • 76.4 (n)
  • 70.21 (a)
UVSSA 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UVSSA 35
  • 76.28 (n)
  • 72.17 (a)
UVSSA 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uvssa 35
  • 76.91 (n)
  • 72.55 (a)
Uvssa 16
Uvssa 36
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UVSSA 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UVSSA 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uvssa 35
  • 76.56 (n)
  • 72.08 (a)
chicken
(Gallus gallus)
Aves UVSSA 35
  • 63.74 (n)
  • 61.58 (a)
UVSSA 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UVSSA 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uvssa 35
  • 61.87 (n)
  • 53.85 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12844 35
zebrafish
(Danio rerio)
Actinopterygii Dr.27106 35
uvssa 35
  • 58.83 (n)
  • 53.87 (a)
uvssa 36
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZK742.2 36
  • 24 (a)
OneToOne
Species with no ortholog for UVSSA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UVSSA Gene

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

Paralogs for UVSSA Gene

Selected SIMAP similar genes for UVSSA Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with UVSSA: view

No data available for Paralogs for UVSSA Gene

Variants for UVSSA Gene

Sequence variations from dbSNP and Humsavar for UVSSA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs9603 -- 1,387,627(+) TTTGT(G/T)TGTGG utr-variant-3-prime
rs10678 -- 1,387,477(+) TGTTT(C/T)TTTCT utr-variant-3-prime
rs1137634 -- 1,350,632(+) TTGTT(G/T)TAATG intron-variant
rs1137635 -- 1,350,692(+) ctgga(A/G)gccga intron-variant
rs1137636 -- 1,350,697(+) agccg(A/G)ggctg intron-variant

Relevant External Links for UVSSA Gene

HapMap Linkage Disequilibrium report
UVSSA
Human Gene Mutation Database (HGMD)
UVSSA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for UVSSA Gene

Disorders for UVSSA Gene

(1) OMIM Diseases for UVSSA Gene (614632)

UniProtKB/Swiss-Prot

UVSSA_HUMAN
  • 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. {ECO:0000269 PubMed:22466610, ECO:0000269 PubMed:22466611, ECO:0000269 PubMed:22466612}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with UVSSA: view

Publications for UVSSA Gene

  1. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. (PMID: 22466610) Nakazawa Y. … Ogi T. (Nat. Genet. 2012) 2 3 4
  2. UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair. (PMID: 22466611) Schwertman P. … Marteijn J.A. (Nat. Genet. 2012) 2 3 4
  3. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. (PMID: 22466612) Zhang X. … Tanaka K. (Nat. Genet. 2012) 2 3 4
  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. (PMID: 10819331) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for UVSSA Gene

Sources for UVSSA Gene

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