ENSG00000196419


Homo sapiens

Features
Gene ID: ENSG00000196419
  
Biological name :XRCC6
  
Synonyms : P12956 / X-ray repair cross complementing 6 / XRCC6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q13.2
Gene start: 41621119
Gene end: 41664048
  
Corresponding Affymetrix probe sets: 200792_at (Human Genome U133 Plus 2.0 Array)   215308_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000384941
Ensembl peptide - ENSP00000384082
Ensembl peptide - ENSP00000403679
Ensembl peptide - ENSP00000384257
Ensembl peptide - ENSP00000352257
Ensembl peptide - ENSP00000353192
NCBI entrez gene - 2547     See in Manteia.
OMIM - 152690
RefSeq - NM_001288978
RefSeq - NM_001469
RefSeq - NM_001288976
RefSeq - NM_001288977
RefSeq Peptide - NP_001275906
RefSeq Peptide - NP_001460
RefSeq Peptide - NP_001275905
RefSeq Peptide - NP_001275907
swissprot - P12956
swissprot - A0A024R1N4
swissprot - B1AHC9
Ensembl - ENSG00000196419
  
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
 xrcc6ENSDARG00000071551Danio rerio
 XRCC6ENSGALG00000011932Gallus gallus
 Xrcc6ENSMUSG00000022471Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR003034  SAP domain
 IPR005160  Ku70/Ku80 C-terminal arm
 IPR005161  Ku70/Ku80, N-terminal alpha/beta
 IPR006164  Ku70/Ku80 beta-barrel domain
 IPR006165  Ku70
 IPR016194  SPOC-like, C-terminal domain superfamily
 IPR027388  Ku70, bridge and pillars domain superfamily
 IPR036361  SAP domain superfamily
 IPR036465  von Willebrand factor A-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000723 telomere maintenance IEA
 biological_processGO:0002218 activation of innate immune response IDA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006266 DNA ligation TAS
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining IEA
 biological_processGO:0006310 DNA recombination IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0032481 positive regulation of type I interferon production TAS
 biological_processGO:0032508 DNA duplex unwinding IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045860 positive regulation of protein kinase activity IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0048660 regulation of smooth muscle cell proliferation IMP
 biological_processGO:0051290 protein heterotetramerization IDA
 biological_processGO:0071475 cellular hyperosmotic salinity response IEA
 biological_processGO:0071480 cellular response to gamma radiation IDA
 biological_processGO:0071481 cellular response to X-ray IEA
 biological_processGO:0075713 establishment of integrated proviral latency TAS
 biological_processGO:0097680 double-strand break repair via classical nonhomologous end joining IDA
 cellular_componentGO:0000783 nuclear telomere cap complex TAS
 cellular_componentGO:0000784 nuclear chromosome, telomeric region HDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005667 transcription factor complex IDA
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0032993 protein-DNA complex IDA
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0043564 Ku70:Ku80 complex IEA
 cellular_componentGO:0070419 nonhomologous end joining complex IDA
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003684 damaged DNA binding IEA
 molecular_functionGO:0003690 double-stranded DNA binding TAS
 molecular_functionGO:0003691 double-stranded telomeric DNA binding IDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004003 ATP-dependent DNA helicase activity IEA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0030332 cyclin binding IPI
 molecular_functionGO:0042162 telomeric DNA binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0044877 protein-containing complex binding IPI
 molecular_functionGO:0051575 5"-deoxyribose-5-phosphate lyase activity IMP


Pathways (from Reactome)
Pathway description
2-LTR circle formation
Cytosolic sensors of pathogen-associated DNA
IRF3-mediated induction of type I IFN
Nonhomologous End-Joining (NHEJ)
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000152422 XRCC4 / Q13426 / X-ray repair cross complementing 4  / reaction / complex
 ENSG00000253729 PRKDC / P78527 / protein kinase, DNA-activated, catalytic polypeptide  / complex / reaction
 ENSG00000067369 Q12888 / TP53BP1 / tumor protein p53 binding protein 1  / reaction
 ENSG00000128731 HERC2 / O95714 / HECT and RLD domain containing E3 ubiquitin protein ligase 2  / reaction
 ENSG00000112130 RNF8 / O76064 / ring finger protein 8  / reaction
 ENSG00000174405 LIG4 / P49917 / DNA ligase 4  / reaction / complex
 ENSG00000137337 MDC1 / Q14676 / mediator of DNA damage checkpoint 1  / reaction
 ENSG00000168148 Q16695 / HIST3H3 / histone cluster 3 H3  / reaction
 ENSG00000169139 Q15819 / UBE2V2 / ubiquitin conjugating enzyme E2 V2  / reaction
 ENSG00000113522 RAD50 / Q92878 / RAD50 double strand break repair protein  / reaction
 ENSG00000172977 KAT5 / Q92993 / lysine acetyltransferase 5  / reaction
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / reaction
 ENSG00000104320 NBN / nibrin / O60934  / reaction
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / reaction
 ENSG00000196419 XRCC6 / P12956 / X-ray repair cross complementing 6  / complex / reaction
 ENSG00000122678 POLM / Q9NP87 / DNA polymerase mu  / reaction
 ENSG00000080345 RIF1 / Q5UIP0 / replication timing regulatory factor 1  / reaction
 ENSG00000105229 PIAS4 / Q8N2W9 / protein inhibitor of activated STAT 4  / reaction
 ENSG00000188486 H2AFX / P16104 / H2A histone family member X  / reaction
 ENSG00000109685 NSD2 / O96028 / nuclear receptor binding SET domain protein 2  / reaction
 ENSG00000079246 XRCC5 / P13010 / X-ray repair cross complementing 5  / complex / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / reaction
 ENSG00000020922 MRE11 / P49959 / MRE11 homolog, double strand break repair nuclease  / reaction
 ENSG00000177889 UBE2N / P61088 / ubiquitin conjugating enzyme E2 N  / reaction
 ENSG00000166169 POLL / Q9UGP5 / DNA polymerase lambda  / reaction
 ENSG00000163961 Q8IYW5 / RNF168 / ring finger protein 168  / reaction
 ENSG00000152457 Q96SD1 / DCLRE1C / DNA cross-link repair 1C  / complex / reaction
 ENSG00000157212 PAXIP1 / Q6ZW49 / PAX interacting protein 1  / reaction
 ENSG00000187736 NHEJ1 / Q9H9Q4 / non-homologous end joining factor 1  / reaction






 

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