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Aliases for UVSSA Gene

Aliases for UVSSA Gene

  • UV Stimulated Scaffold Protein A 2 3 5
  • KIAA1530 2 3 4
  • UVSS3 3

External Ids for UVSSA Gene

Previous HGNC 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, 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]

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. Among its related pathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). 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

Regulatory Elements for UVSSA Gene

Enhancers for UVSSA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UVSSA on UCSC Golden Path with GeneCards custom track

Promoters for UVSSA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UVSSA on UCSC Golden Path with GeneCards custom track

Genomic Location for UVSSA Gene

Chromosome:
4
Start:
1,345,658 bp from pter
End:
1,388,049 bp from pter
Size:
42,392 bases
Orientation:
Plus strand

Genomic View for UVSSA Gene

Genes around UVSSA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UVSSA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UVSSA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

No data available for DME Specific Peptides for UVSSA Gene

Domains & Families for UVSSA Gene

Protein Domains for UVSSA Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q2YD98

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for UVSSA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for UVSSA Gene

miRTarBase miRNAs that target UVSSA

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UVSSA Gene COMPARTMENTS Subcellular localization image for UVSSA gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for UVSSA Gene

Pathways & Interactions for UVSSA Gene

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

Interacting Proteins for UVSSA Gene

Gene Ontology (GO) - Biological Process for UVSSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
genes like me logo Genes that share ontologies with UVSSA: view

No data available for SIGNOR curated interactions for UVSSA Gene

Drugs & Compounds for UVSSA Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for UVSSA Gene

This gene is overexpressed in Cerebrospinal fluid (52.8) and Plasma (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with UVSSA: view

Protein tissue co-expression partners for UVSSA Gene

Primer Products

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia UVSSA 35
  • 98.78 (n)
  • 99.01 (a)
UVSSA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uvssa 35
  • 76.56 (n)
  • 72.08 (a)
cow
(Bos Taurus)
Mammalia UVSSA 36
  • 67 (a)
OneToOne
KIAA1530 35
  • 76.4 (n)
  • 70.21 (a)
oppossum
(Monodelphis domestica)
Mammalia UVSSA 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UVSSA 36
  • 57 (a)
OneToOne
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)
zebrafish
(Danio rerio)
Actinopterygii Dr.27106 35
uvssa 35
  • 58.83 (n)
  • 53.87 (a)
uvssa 36
  • 50 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12844 35
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

(1) 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
rs2276904 - 1,355,241(+) AAGGC(A/G/T)CAGGG nc-transcript-variant, downstream-variant-500B, reference, missense
rs28522910 - 1,380,986(+) GCGCC(C/T)GGGTA nc-transcript-variant, downstream-variant-500B, reference, missense
VAR_067798 UV-sensitive syndrome 3 (UVSS3)
rs9603 -- 1,387,627(+) TTTGT(G/T)TGTGG utr-variant-3-prime
rs10678 -- 1,387,477(+) TGTTT(C/T)TTTCT utr-variant-3-prime

Variation tolerance for UVSSA Gene

Residual Variation Intolerance Score: 98.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.61; 56.46% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(3) MalaCards diseases for UVSSA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
uv-sensitive syndrome 3
  • uvss3
uv-sensitive syndrome
  • uv sensitive syndrome
cockayne syndrome
  • cockayne's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search UVSSA in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for UVSSA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UVSSA
genes like me logo Genes that share disorders with UVSSA: view

No data available for Genatlas for UVSSA Gene

Publications for UVSSA Gene

  1. 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 67
  2. 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
  3. 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. 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
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for UVSSA Gene

Sources for UVSSA Gene

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