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 i... See more...

Aliases for UVSSA Gene

Aliases for UVSSA Gene

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

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 Transcription-Coupled Nucleotide Excision Repair (TC-NER) and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include RNA polymerase II complex binding.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for UVSSA Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UVSSA Gene

Genomics for UVSSA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UVSSA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J001344 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 632.4 +4.9 4892 4.3 SP1 CREB1 ZNF629 TFE3 RFX1 IKZF1 POLR2A ZNF692 RCOR2 BACH1 UVSSA lnc-NKX1-1-4 MAEA CTBP1 CTBP1-DT SLC49A3 lnc-MAEA-1 ENSG00000288380
GH04J001374 Promoter 0.3 EPDnew 600.3 +32.9 32895 0.1 lnc-NKX1-1-3 UVSSA piR-57594 ENSG00000288380
GH04J001342 Enhancer 0.3 Ensembl 600.7 +0.1 103 0.2 ZNF7 UVSSA CTBP1 CTBP1-DT lnc-NKX1-1-4 ENSG00000288380
GH04J001792 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 29.3 +455.9 455892 10.4 HNRNPL GATAD2A TEAD4 SOX13 KDM1A FOXA1 MTA2 ZIC2 RBFOX2 RXRB FGFR3 RNF4 IDUA UVSSA HAUS3 NELFA GAK CTBP1-DT MAEA ENSG00000270195
GH04J000673 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 29.2 -664.3 -664297 9.8 BRCA1 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 ATF7 PRDM10 ZNF629 ATP5ME MYL5 PCGF3 PIGG UVSSA ENSG00000272588 ZNF718 GAK IDUA SLC49A3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UVSSA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UVSSA

Genomic Locations for UVSSA Gene

Genomic Locations for UVSSA Gene
chr4:1,341,998-1,395,989
(GRCh38/hg38)
Size:
53,992 bases
Orientation:
Plus strand
chr4:1,341,054-1,381,837
(GRCh37/hg19)
Size:
40,784 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=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UVSSA Gene

    Alternative splice isoforms for UVSSA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UVSSA Gene

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

Gene Families for UVSSA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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 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.

Phenotypes From GWAS Catalog for UVSSA Gene

Gene Ontology (GO) - Molecular Function for UVSSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 RNA polymerase II complex binding IBA,IMP 22466610
GO:0005515 protein binding IPI 22466611
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UVSSA

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. {ECO:0000269 PubMed:22466611}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UVSSA gene
Compartment Confidence
nucleus 5
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UVSSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IBA,IDA 22466611
genes like me logo Genes that share ontologies with UVSSA: view

Pathways & Interactions for UVSSA Gene

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

Gene Ontology (GO) - Biological Process for UVSSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006283 transcription-coupled nucleotide-excision repair IBA,TAS --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0009411 response to UV IEA,IMP 22466610
GO:0016567 protein ubiquitination IMP 22466610
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

mRNA/cDNA for UVSSA Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UVSSA

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

No ASD Table

Relevant External Links for UVSSA Gene

GeneLoc Exon Structure for
UVSSA

Expression for UVSSA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for UVSSA Gene



Protein tissue co-expression partners for UVSSA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UVSSA

SOURCE GeneReport for Unigene cluster for UVSSA Gene:

Hs.380475

Evidence on tissue expression from TISSUES for UVSSA Gene

  • Skin(4.3)
  • Intestine(4.3)
  • Lung(4.2)
  • Liver(4.2)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UVSSA Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
Regions:
General:
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns 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 30 31
  • 98.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Uvssa 30 17 31
  • 76.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Uvssa 30
  • 76.56 (n)
Cow
(Bos Taurus)
Mammalia KIAA1530 30
  • 76.4 (n)
UVSSA 31
  • 67 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia UVSSA 30 31
  • 76.28 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UVSSA 31
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UVSSA 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves UVSSA 30 31
  • 63.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UVSSA 31
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia uvssa 30
  • 61.87 (n)
Zebrafish
(Danio rerio)
Actinopterygii uvssa 30 31
  • 58.83 (n)
OneToOne
Dr.27106 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12844 30
Worm
(Caenorhabditis elegans)
Secernentea ZK742.2 31
  • 24 (a)
OneToOne
Species where no ortholog for UVSSA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for UVSSA: view image

Paralogs for UVSSA Gene

(1) SIMAP similar genes for UVSSA Gene using alignment to 2 proteins:

  • UVSSA_HUMAN
  • H0Y924_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UVSSA Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
31570 Pathogenic: UV-sensitive syndrome 3 1,348,177(+) AG/A FRAMESHIFT_VARIANT
719090 Benign: not provided 1,355,113(+) G/A INTRON_VARIANT
720788 Likely Benign: not provided 1,353,216(+) G/A MISSENSE_VARIANT
730848 Likely Benign: not provided 1,376,093(+) G/A MISSENSE_VARIANT
731349 Likely Benign: not provided 1,383,821(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for UVSSA Gene

Structural Variations from Database of Genomic Variants (DGV) for UVSSA Gene

Variant ID Type Subtype PubMed ID
esv1006299 CNV deletion 20482838
esv1410483 CNV deletion 17803354
esv1756129 CNV deletion 17803354
esv1935041 CNV deletion 18987734
esv2394121 CNV deletion 18987734
esv2668038 CNV deletion 23128226
esv2678428 CNV deletion 23128226
esv2726788 CNV deletion 23290073
esv2726789 CNV deletion 23290073
esv2726790 CNV deletion 23290073
esv2726791 CNV deletion 23290073
esv2726792 CNV deletion 23290073
esv3563236 CNV deletion 23714750
esv3569247 CNV loss 25503493
esv4355 CNV loss 18987735
esv5140 CNV loss 18987735
nsv1120470 CNV tandem duplication 24896259
nsv1126031 CNV deletion 24896259
nsv1149343 CNV deletion 26484159
nsv292411 CNV deletion 16902084
nsv4197 CNV insertion 18451855
nsv461157 CNV loss 19166990
nsv508988 CNV insertion 20534489
nsv593278 CNV loss 21841781
nsv593281 CNV loss 21841781
nsv593298 CNV loss 21841781
nsv593301 CNV loss 21841781
nsv593302 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv822434 CNV gain 20364138
nsv950332 CNV deletion 24416366

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)

Additional Variant Information for UVSSA Gene

Human Gene Mutation Database (HGMD)
UVSSA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UVSSA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UVSSA Gene

Disorders for UVSSA Gene

MalaCards: The human disease database

(11) MalaCards diseases for UVSSA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.
genes like me logo Genes that share disorders with UVSSA: view

No data available for Genatlas for UVSSA Gene

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 (Nature genetics 2012) 2 3 4
  2. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. (PMID: 22466612) Zhang X … Tanaka K (Nature genetics 2012) 2 3 4
  3. UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair. (PMID: 22466611) Schwertman P … Marteijn JA (Nature genetics 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for UVSSA Gene

Sources for UVSSA Gene