ENSG00000163945


Homo sapiens
proteinrepairtc-nerUVSSAdnaregulationresponsetranscription-coupledcellularuvestrogenmembranebindingpost-setdomainenthvhsunknownfunctiondufnucleotide-excisionkinaseactivitydamagestimulusubiquitinationintracellularreceptorsignalingpathwaycytoskeleton

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)
nitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimulusregulation of molecular functionresponse to abiotic stimuluscell communicationresponse to endogenous stimulusresponse to chemicalresponse to estrogencellular component organizationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimulusregulation of molecular functionresponse to abiotic stimuluscell communicationresponse to endogenous stimulusresponse to chemicalresponse to estrogencellular component organizationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimulusregulation of molecular functionresponse to abiotic stimuluscell communicationresponse to endogenous stimulusresponse to chemicalresponse to estrogencellular component organizationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimulusregulation of molecular functionresponse to abiotic stimuluscell communicationresponse to endogenous stimulusresponse to chemicalresponse to estrogencellular component organizationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimulusregulation of molecular functionresponse to abiotic stimuluscell communicationresponse to endogenous stimulusresponse to chemicalresponse to estrogencellular component organizationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimulusregulation of molecular functionresponse to abiotic stimuluscell communicationresponse to endogenous stimulusresponse to chemicalresponse to estrogencellular component organizationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimulusregulation of molecular functionresponse to abiotic stimuluscell communicationresponse to endogenous stimulusresponse to chemicalresponse to estrogencellular component organizationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimulusregulation of molecular functionresponse to abiotic stimuluscell communicationresponse to endogenous stimulusresponse to chemicalresponse to estrogencellular component organizationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimulusregulation of molecular functionresponse to abiotic stimuluscell communicationresponse to endogenous stimulusresponse to chemicalresponse to estrogencellular component organizationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimulusregulation of molecular functionresponse to abiotic stimuluscell communicationresponse to endogenous stimulusresponse to chemicalresponse to estrogencellular component organizationnitrogen cnitrogen compound metabolic processresponse tresponse to stresscellular mcellular metabolic processprimary meprimary metabolic processorganic suorganic substance metabolic processcellular rcellular response to stimulusregulationregulation of molecular functionresponse tresponse to abiotic stimuluscell commucell communicationresponse tresponse to endogenous stimulusresponse tresponse to chemicalresponse tresponse to estrogencellular ccellular component organization
protein bindingprotein-containing complex bindingprotein bindingprotein-containing complex bindingprotein bindingprotein-containing complex bindingprotein bindingprotein-containing complex bindingprotein bindingprotein-containing complex bindingprotein bindingprotein-containing complex bindingprotein bindingprotein-containing complex bindingprotein bindingprotein-containing complex bindingprotein bindingprotein-containing complex bindingprotein bindingprotein-containing complex bindingprotein bindingprotein bindingprotein-containing complex bindingprotein-containing complex binding
cellorganellemembrane-enclosed lumenmembranecellorganellemembrane-enclosed lumenmembranecellorganellemembrane-enclosed lumenmembranecellorganellemembrane-enclosed lumenmembranecellorganellemembrane-enclosed lumenmembranecellorganellemembrane-enclosed lumenmembranecellorganellemembrane-enclosed lumenmembranecellorganellemembrane-enclosed lumenmembranecellorganellemembrane-enclosed lumenmembranecellorganellemembrane-enclosed lumenmembranecellcellorganelleorganellemembrane-enclosed lumenmembrane-enclosed lumenmembranemembrane
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)
Autosomal recessive inheritanceIntegument abnormalityAbnormality of the cardiovascular systemMetabolism abnormalityAge of onsetAutosomal recessive inheritanceIntegument abnormalityAbnormality of the cardiovascular systemMetabolism abnormalityAge of onsetAutosomal recessive inheritanceIntegument abnormalityAbnormality of the cardiovascular systemMetabolism abnormalityAge of onsetAutosomal recessive inheritanceIntegument abnormalityAbnormality of the cardiovascular systemMetabolism abnormalityAge of onsetAutosomal recessive inheritanceIntegument abnormalityAbnormality of the cardiovascular systemMetabolism abnormalityAge of onsetAutosomal recessive inheritanceIntegument abnormalityAbnormality of the cardiovascular systemMetabolism abnormalityAge of onsetAutosomal recessive inheritanceIntegument abnormalityAbnormality of the cardiovascular systemMetabolism abnormalityAge of onsetAutosomal recessive inheritanceIntegument abnormalityAbnormality of the cardiovascular systemMetabolism abnormalityAge of onsetAutosomal recessive inheritanceIntegument abnormalityAbnormality of the cardiovascular systemMetabolism abnormalityAge of onsetAutosomal recessive inheritanceIntegument abnormalityAbnormality of the cardiovascular systemMetabolism abnormalityAge of onsetAutosomal recessive inheritaAutosomal recessive inheritanceIntegument abnormalityIntegument abnormalityAbnormality of the cardiovasAbnormality of the cardiovascular systemMetabolism abnormalityMetabolism abnormalityAge of onsetAge of onset
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]
Show

 HP:0000958 Dry skin 
Show

 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]
Show

 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]
Show

 HP:0001480 Freckling 
Show

 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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr