ENSG00000163945


Homo sapiens

Features
Gene ID: ENSG00000163945
  
Biological name :UVSSA
  
Synonyms : Q2YD98 / Q8N1N5 / UVSSA / UV stimulated scaffold protein A
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: p16.3
Gene start: 1347266
Gene end: 1395992
  
Corresponding Affymetrix probe sets: 1555107_a_at (Human Genome U133 Plus 2.0 Array)   228318_s_at (Human Genome U133 Plus 2.0 Array)   233893_s_at (Human Genome U133 Plus 2.0 Array)   241201_at (Human Genome U133 Plus 2.0 Array)   241408_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000427701
Ensembl peptide - ENSP00000421741
Ensembl peptide - ENSP00000422795
Ensembl peptide - ENSP00000423340
Ensembl peptide - ENSP00000425130
Ensembl peptide - ENSP00000323978
Ensembl peptide - ENSP00000374501
NCBI entrez gene - 57654     See in Manteia.
NCBI entrez gene - 285464     See in Manteia.
OMIM - 610203
OMIM - 614632
RefSeq - XM_017008500
RefSeq - NM_001317934
RefSeq - NM_001317935
RefSeq - NM_020894
RefSeq - NM_175918
RefSeq - XM_017008490
RefSeq - XM_017008491
RefSeq - XM_017008492
RefSeq - XM_017008493
RefSeq - XM_017008494
RefSeq - XM_017008495
RefSeq Peptide - NP_065945
RefSeq Peptide - NP_001304863
RefSeq Peptide - NP_001304864
RefSeq Peptide - NP_787114
swissprot - Q8N1N5
swissprot - Q2YD98
swissprot - H0Y924
Ensembl - ENSG00000163945
  
Related genetic diseases (OMIM): 614640 - UV-sensitive syndrome 3, 614640
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 uvssaENSDARG00000100916Danio rerio
 UVSSAENSGALG00000037699Gallus gallus
 UvssaENSMUSG00000037355Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003616  Post-SET domain
 IPR008942  ENTH/VHS
 IPR018610  Protein of unknown function DUF2043


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006283 transcription-coupled nucleotide-excision repair IMP
 biological_processGO:0006469 negative regulation of protein kinase activity IDA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0009411 response to UV IMP
 biological_processGO:0016567 protein ubiquitination IMP
 biological_processGO:0033147 negative regulation of intracellular estrogen receptor signaling pathway IDA
 biological_processGO:0043627 response to estrogen IDA
 biological_processGO:0051493 regulation of cytoskeleton organization IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0000993 RNA polymerase II core binding IMP
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000958 Dry skin 
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 HP:0000992 Photosensitivity "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators]
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 HP:0001009 Telangiectasia "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [HPO:curators]
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 HP:0001480 Freckling 
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 HP:0003224 Increased cellular sensitivity to UV light 
Show

 HP:0003593 Early onset 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000187555 USP7 / Q93009 / ubiquitin specific peptidase 7  / complex






 

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