About: PRKDC wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • PRKDC wt Allele
equivalentClass
OMIM_Number
  • 600899
GenBank_Accession_Number
  • NM_006904
Semantic_Type
  • Gene or Genome
Preferred_Name
  • PRKDC wt Allele
UMLS_CUI
  • C1705560
GO_Annotation
  • DNA recombinationGO:0006310NR29-SEP-2003CGAP
  • protein kinase activityGO:0004672TAS29-SEP-2003CGAP
  • double-strand break repairGO:0006302NR29-SEP-2003CGAP
  • protein modificationGO:0006464TAS29-SEP-2003CGAP
EntrezGene_ID
  • 5591
Legacy_Concept_Name
  • PRKDC_wt_Allele
HGNC_ID
  • HGNC:9413
FULL_SYN
  • Protein Kinase, DNA-Activated, Catalytic Polypeptide wt AlleleSYNCI
  • PRKDC wt AllelePTNCI
  • p350SYNCI
  • DNPK1SYNCI
  • HYRC1SYNCI
  • XRCC7SYNCI
  • DNAPKSYNCI
  • Hyper-Radiosensitivity Of Murine SCID Mutation, Complementing 1 GeneSYNCI
  • p350 GeneSYNCI
  • DNPK1 GeneSYNCI
  • HYRC1 GeneSYNCI
  • XRCC7 GeneSYNCI
  • DNAPK GeneSYNCI
Gene_Encodes_Product
  • DNA-Activated Protein Kinase Catalytic Subunit
DEFINITION
  • Human PRKDC wild-type allele is located in the vicinity of 8q11 and is approximately 187 kb in length. This allele, which encodes PMS1 protein homolog 2 protein, may play a role in DNA double strand break repair and several other processes.NCI
DesignNote
  • PRKDC relies on the heterodimer Ku70/Ku80 autoantigen, the DNA-binding DNA-PK component, to direct it to DNA double-stranded breaks for other discontinuities in the DNA double helix and trigger its kinase activity. PRKDC is critical for repair of DNA double strand breaks via the nonhomologous DNA end joining, telomere maintenance via telomere capping, innate immune response via V(D)J recombination (where V is variable, D is diversity, and J is joining) as well as transcriptional regulation via p53, the site-specific recombination process in developing B and T lymphocytes to generate the variable regions of immunoglobulin and T cell receptor genes.
code
  • C51004
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