ENSG00000253729


Homo sapiens

Features
Gene ID: ENSG00000253729
  
Biological name :PRKDC
  
Synonyms : P78527 / PRKDC / protein kinase, DNA-activated, catalytic polypeptide
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q11.21
Gene start: 47773108
Gene end: 47960183
  
Corresponding Affymetrix probe sets: 208694_at (Human Genome U133 Plus 2.0 Array)   210543_s_at (Human Genome U133 Plus 2.0 Array)   215757_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000313420
Ensembl peptide - ENSP00000345182
Ensembl peptide - ENSP00000441157
Ensembl peptide - ENSP00000442177
NCBI entrez gene - 5591     See in Manteia.
OMIM - 600899
RefSeq - NM_006904
RefSeq - NM_001081640
RefSeq Peptide - NP_001075109
RefSeq Peptide - NP_008835
swissprot - P78527
swissprot - F5GX40
swissprot - H0YG84
Ensembl - ENSG00000253729
  
Related genetic diseases (OMIM): 615966 - Immunodeficiency 26, with or without neurologic abnormalities, 615966
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
 prkdcENSDARG00000075083Danio rerio
 PRKDCENSGALG00000042469Gallus gallus
 PrkdcENSMUSG00000022672Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ATR / Q13535 / ATR serine/threonine kinaseENSG0000017505411


Protein motifs (from Interpro)
Interpro ID Name
 IPR000403  Phosphatidylinositol 3-/4-kinase, catalytic domain
 IPR003151  PIK-related kinase, FAT
 IPR003152  FATC domain
 IPR011009  Protein kinase-like domain superfamily
 IPR011989  Armadillo-like helical
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR012582  NUC194
 IPR014009  PIK-related kinase
 IPR016024  Armadillo-type fold
 IPR018936  Phosphatidylinositol 3/4-kinase, conserved site
 IPR036940  Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000723 telomere maintenance IEA
 biological_processGO:0001756 somitogenesis IEA
 biological_processGO:0001933 negative regulation of protein phosphorylation ISS
 biological_processGO:0002218 activation of innate immune response IDA
 biological_processGO:0002326 B cell lineage commitment IEA
 biological_processGO:0002328 pro-B cell differentiation IEA
 biological_processGO:0002360 T cell lineage commitment IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002377 immunoglobulin production IEA
 biological_processGO:0002638 negative regulation of immunoglobulin production IEA
 biological_processGO:0002684 positive regulation of immune system process IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006302 double-strand break repair IMP
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining TAS
 biological_processGO:0006310 DNA recombination IEA
 biological_processGO:0006464 cellular protein modification process TAS
 biological_processGO:0006468 protein phosphorylation IMP
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008283 cell proliferation IMP
 biological_processGO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IEA
 biological_processGO:0010212 response to ionizing radiation IEA
 biological_processGO:0010332 response to gamma radiation IEA
 biological_processGO:0014823 response to activity IEA
 biological_processGO:0016233 telomere capping IMP
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0016567 protein ubiquitination TAS
 biological_processGO:0018105 peptidyl-serine phosphorylation IDA
 biological_processGO:0030098 lymphocyte differentiation IEA
 biological_processGO:0031648 protein destabilization IEA
 biological_processGO:0032481 positive regulation of type I interferon production TAS
 biological_processGO:0032869 cellular response to insulin stimulus IMP
 biological_processGO:0033077 T cell differentiation in thymus IEA
 biological_processGO:0033151 V(D)J recombination IEA
 biological_processGO:0033152 immunoglobulin V(D)J recombination IEA
 biological_processGO:0033153 T cell receptor V(D)J recombination IEA
 biological_processGO:0035234 ectopic germ cell programmed cell death IEA
 biological_processGO:0042752 regulation of circadian rhythm ISS
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0048146 positive regulation of fibroblast proliferation IEA
 biological_processGO:0048511 rhythmic process IEA
 biological_processGO:0048536 spleen development IEA
 biological_processGO:0048538 thymus development IEA
 biological_processGO:0048639 positive regulation of developmental growth IEA
 biological_processGO:0048660 regulation of smooth muscle cell proliferation IMP
 biological_processGO:0072431 signal transduction involved in mitotic G1 DNA damage checkpoint IMP
 biological_processGO:0097681 double-strand break repair via alternative nonhomologous end joining TAS
 biological_processGO:2000773 negative regulation of cellular senescence IEA
 biological_processGO:2001229 negative regulation of response to gamma radiation IEA
 cellular_componentGO:0000784 nuclear chromosome, telomeric region HDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IDA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005958 DNA-dependent protein kinase-DNA ligase 4 complex IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0032991 protein-containing complex IMP
 cellular_componentGO:0032993 protein-DNA complex IDA
 cellular_componentGO:0070419 nonhomologous end joining complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003690 double-stranded DNA binding IDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0004672 protein kinase activity IMP
 molecular_functionGO:0004674 protein serine/threonine kinase activity IDA
 molecular_functionGO:0004677 DNA-dependent protein kinase activity IDA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0019904 protein domain specific binding IPI


Pathways (from Reactome)
Pathway description
Cytosolic sensors of pathogen-associated DNA
IRF3-mediated induction of type I IFN
Nonhomologous End-Joining (NHEJ)
E3 ubiquitin ligases ubiquitinate target proteins


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:0000054 Micropenis 
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 HP:0000219 Thin upper lip 
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000331 Small chin 
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 HP:0000343 Long philtrum 
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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 HP:0000490 Deep set eyes 
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 HP:0000505 Impaired vision 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001302 Pachygyria "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators]
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 HP:0001320 Cerebellar vermis hypoplasia 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0002783 Recurrent lower respiratory tract infections 
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 HP:0003429 Hypomyelination 
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 HP:0003593 Early onset 
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 HP:0004430 Severe combined immunodeficiency "Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems." [HPO:curators]
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 HP:0009879 Cortical gyral simplification "An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex." [HPO:curators]
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 HP:0010557 Overlapping fingers "Overlapping of the fingers occuring as the result of a deviation of the fingers from their normal position." [HPO:curators]
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 HP:0011107 Recurrent aphthous stomatitis "Recurrent episodes of ulceration of the oral mucosa." [HPO:probinson]
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 HP:0011220 Prominent forehead "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436]
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 HP:0012444 Brain atrophy "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000152422 XRCC4 / Q13426 / X-ray repair cross complementing 4  / reaction
 ENSG00000151692 P50876 / RNF144A / ring finger protein 144A  / complex / reaction
 ENSG00000152457 Q96SD1 / DCLRE1C / DNA cross-link repair 1C  / complex / reaction
 ENSG00000253729 PRKDC / P78527 / protein kinase, DNA-activated, catalytic polypeptide  / reaction / complex
 ENSG00000196419 XRCC6 / P12956 / X-ray repair cross complementing 6  / reaction / complex
 ENSG00000122678 POLM / Q9NP87 / DNA polymerase mu  / reaction
 ENSG00000166169 POLL / Q9UGP5 / DNA polymerase lambda  / reaction
 ENSG00000079246 XRCC5 / P13010 / X-ray repair cross complementing 5  / reaction / complex
 ENSG00000185651 P68036 / UBE2L3 / ubiquitin conjugating enzyme E2 L3  / reaction / complex
 ENSG00000174405 LIG4 / P49917 / DNA ligase 4  / reaction
 ENSG00000187736 NHEJ1 / Q9H9Q4 / non-homologous end joining factor 1  / reaction






 

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