ENSG00000051341


Homo sapiens

Features
Gene ID: ENSG00000051341
  
Biological name :POLQ
  
Synonyms : DNA polymerase theta / O75417 / POLQ
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q13.33
Gene start: 121431427
Gene end: 121546641
  
Corresponding Affymetrix probe sets: 207746_at (Human Genome U133 Plus 2.0 Array)   219510_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000481120
Ensembl peptide - ENSP00000264233
NCBI entrez gene - 10721     See in Manteia.
OMIM - 604419
RefSeq - XM_017005565
RefSeq - NM_199420
RefSeq - XM_011512347
RefSeq - XM_011512348
RefSeq - XM_011512352
RefSeq - XM_011512343
RefSeq Peptide - NP_955452
swissprot - O75417
swissprot - A0A087WXL3
Ensembl - ENSG00000051341
  
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
 polqENSDARG00000044622Danio rerio
 POLQENSGALG00000014924Gallus gallus
 PolqENSMUSG00000034206Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HELQ / Q8TDG4 / helicase, POLQ likeENSG0000016331211
O75643 / SNRNP200 / small nuclear ribonucleoprotein U5 subunit 200ENSG0000014402811
ASCC3 / Q8N3C0 / activating signal cointegrator 1 complex subunit 3ENSG0000011224911
POLN / Q7Z5Q5 / DNA polymerase nuENSG0000013099710


Protein motifs (from Interpro)
Interpro ID Name
 IPR001098  DNA-directed DNA polymerase, family A, palm domain
 IPR001650  Helicase, C-terminal
 IPR002298  DNA polymerase A
 IPR011545  DEAD/DEAH box helicase domain
 IPR012337  Ribonuclease H-like superfamily
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR019760  DNA-directed DNA polymerase, family A, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000724 double-strand break repair via homologous recombination TAS
 biological_processGO:0006260 DNA replication IEA
 biological_processGO:0006261 DNA-dependent DNA replication IEA
 biological_processGO:0006281 DNA repair TAS
 biological_processGO:0006284 base-excision repair IDA
 biological_processGO:0006302 double-strand break repair IDA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0016446 somatic hypermutation of immunoglobulin genes IEA
 biological_processGO:0051260 protein homooligomerization IDA
 biological_processGO:0071897 DNA biosynthetic process IEA
 biological_processGO:0097681 double-strand break repair via alternative nonhomologous end joining IDA
 biological_processGO:2000042 negative regulation of double-strand break repair via homologous recombination IDA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005737 cytoplasm IBA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003684 damaged DNA binding TAS
 molecular_functionGO:0003887 DNA-directed DNA polymerase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016779 nucleotidyltransferase activity IEA
 molecular_functionGO:0043142 single-stranded DNA-dependent ATPase activity IDA
 molecular_functionGO:0051575 5"-deoxyribose-5-phosphate lyase activity IDA


Pathways (from Reactome)
Pathway description
HDR through MMEJ (alt-NHEJ)


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000101773 RBBP8 / Q99708 / RB binding protein 8, endonuclease  / complex / reaction
 ENSG00000113522 RAD50 / Q92878 / RAD50 double strand break repair protein  / complex / reaction
 ENSG00000168496 FEN1 / P39748 / flap structure-specific endonuclease 1  / reaction / complex
 ENSG00000104320 NBN / nibrin / O60934  / reaction / complex
 ENSG00000143799 PARP1 / P09874 / poly(ADP-ribose) polymerase 1  / reaction / complex
 ENSG00000020922 MRE11 / P49959 / MRE11 homolog, double strand break repair nuclease  / reaction / complex
 ENSG00000051341 POLQ / O75417 / DNA polymerase theta  / complex






 

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