ENSG00000116288


Homo sapiens

Features
Gene ID: ENSG00000116288
  
Biological name :PARK7
  
Synonyms : PARK7 / Parkinsonism associated deglycase / Q99497
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p36.23
Gene start: 7954291
Gene end: 7985505
  
Corresponding Affymetrix probe sets: 200006_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000466756
Ensembl peptide - ENSP00000465404
Ensembl peptide - ENSP00000466242
Ensembl peptide - ENSP00000340278
Ensembl peptide - ENSP00000366708
Ensembl peptide - ENSP00000366711
Ensembl peptide - ENSP00000418770
NCBI entrez gene - 11315     See in Manteia.
OMIM - 602533
RefSeq - XM_005263424
RefSeq - NM_001123377
RefSeq - NM_007262
RefSeq Peptide - NP_001116849
RefSeq Peptide - NP_009193
swissprot - K7ELW0
swissprot - Q99497
swissprot - K7EN27
swissprot - V9HWC2
Ensembl - ENSG00000116288
  
Related genetic diseases (OMIM): 606324 - Parkinson disease 7, autosomal recessive early-onset, 606324
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
 park7ENSDARG00000116835Danio rerio
 PARK7ENSGALG00000036214Gallus gallus
 Park7ENSMUSG00000028964Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR002818  DJ-1/PfpI
 IPR006287  Protein/nucleic acid deglycase DJ-1
 IPR029062  Class I glutamine amidotransferase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001933 negative regulation of protein phosphorylation IGI
 biological_processGO:0001963 synaptic transmission, dopaminergic IEA
 biological_processGO:0002866 positive regulation of acute inflammatory response to antigenic stimulus ISS
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006469 negative regulation of protein kinase activity IGI
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006517 protein deglycosylation IMP
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007005 mitochondrion organization ISS
 biological_processGO:0007265 Ras protein signal transduction TAS
 biological_processGO:0007338 single fertilization IEA
 biological_processGO:0008344 adult locomotory behavior IEA
 biological_processGO:0009438 methylglyoxal metabolic process IDA
 biological_processGO:0010273 detoxification of copper ion IMP
 biological_processGO:0010628 positive regulation of gene expression TAS
 biological_processGO:0010629 negative regulation of gene expression IDA
 biological_processGO:0018323 enzyme active site formation via L-cysteine sulfinic acid IEA
 biological_processGO:0019249 lactate biosynthetic process IDA
 biological_processGO:0030073 insulin secretion ISS
 biological_processGO:0031397 negative regulation of protein ubiquitination IDA
 biological_processGO:0032091 negative regulation of protein binding IMP
 biological_processGO:0032148 activation of protein kinase B activity IC
 biological_processGO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
 biological_processGO:0032757 positive regulation of interleukin-8 production IDA
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation IMP
 biological_processGO:0033234 negative regulation of protein sumoylation IDA
 biological_processGO:0033864 positive regulation of NAD(P)H oxidase activity ISS
 biological_processGO:0034599 cellular response to oxidative stress IMP
 biological_processGO:0034614 cellular response to reactive oxygen species IEA
 biological_processGO:0036471 cellular response to glyoxal IDA
 biological_processGO:0036526 peptidyl-cysteine deglycation IDA
 biological_processGO:0036527 peptidyl-arginine deglycation IDA
 biological_processGO:0036528 peptidyl-lysine deglycation IDA
 biological_processGO:0036529 protein deglycation, glyoxal removal IDA
 biological_processGO:0036530 protein deglycation, methylglyoxal removal IDA
 biological_processGO:0036531 glutathione deglycation IDA
 biological_processGO:0042177 negative regulation of protein catabolic process IEA
 biological_processGO:0042542 response to hydrogen peroxide IEA
 biological_processGO:0042593 glucose homeostasis ISS
 biological_processGO:0042743 hydrogen peroxide metabolic process IDA
 biological_processGO:0043066 negative regulation of apoptotic process IDA
 biological_processGO:0043523 regulation of neuron apoptotic process IDA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0046295 glycolate biosynthetic process IDA
 biological_processGO:0046826 negative regulation of protein export from nucleus IGI
 biological_processGO:0050727 regulation of inflammatory response ISS
 biological_processGO:0050787 detoxification of mercury ion IMP
 biological_processGO:0050821 protein stabilization IDA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity TAS
 biological_processGO:0051444 negative regulation of ubiquitin-protein transferase activity IDA
 biological_processGO:0051583 dopamine uptake involved in synaptic transmission IEA
 biological_processGO:0051881 regulation of mitochondrial membrane potential IMP
 biological_processGO:0051897 positive regulation of protein kinase B signaling IC
 biological_processGO:0051899 membrane depolarization IEA
 biological_processGO:0060081 membrane hyperpolarization IEA
 biological_processGO:0060548 negative regulation of cell death IDA
 biological_processGO:0060765 regulation of androgen receptor signaling pathway IDA
 biological_processGO:0070301 cellular response to hydrogen peroxide IDA
 biological_processGO:0090073 positive regulation of protein homodimerization activity IDA
 biological_processGO:0098869 cellular oxidant detoxification IEA
 biological_processGO:0106044 guanine deglycation IDA
 biological_processGO:0106045 guanine deglycation, methylglyoxal removal IDA
 biological_processGO:0106046 guanine deglycation, glyoxal removal IDA
 biological_processGO:1900182 positive regulation of protein localization to nucleus IMP
 biological_processGO:1901215 negative regulation of neuron death IDA
 biological_processGO:1901671 positive regulation of superoxide dismutase activity IDA
 biological_processGO:1901984 negative regulation of protein acetylation IDA
 biological_processGO:1902177 positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IEA
 biological_processGO:1902236 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IGI
 biological_processGO:1902903 regulation of supramolecular fiber organization TAS
 biological_processGO:1902958 positive regulation of mitochondrial electron transport, NADH to ubiquinone IMP
 biological_processGO:1903073 negative regulation of death-inducing signaling complex assembly IC
 biological_processGO:1903094 negative regulation of protein K48-linked deubiquitination IDA
 biological_processGO:1903122 negative regulation of TRAIL-activated apoptotic signaling pathway IMP
 biological_processGO:1903168 positive regulation of pyrroline-5-carboxylate reductase activity IDA
 biological_processGO:1903178 positive regulation of tyrosine 3-monooxygenase activity IDA
 biological_processGO:1903181 positive regulation of dopamine biosynthetic process IDA
 biological_processGO:1903189 glyoxal metabolic process IDA
 biological_processGO:1903197 positive regulation of L-dopa biosynthetic process IMP
 biological_processGO:1903200 positive regulation of L-dopa decarboxylase activity IDA
 biological_processGO:1903202 negative regulation of oxidative stress-induced cell death IDA
 biological_processGO:1903204 negative regulation of oxidative stress-induced neuron death IEA
 biological_processGO:1903206 negative regulation of hydrogen peroxide-induced cell death IMP
 biological_processGO:1903208 negative regulation of hydrogen peroxide-induced neuron death IDA
 biological_processGO:1903377 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IDA
 biological_processGO:1903384 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway IGI
 biological_processGO:1903427 negative regulation of reactive oxygen species biosynthetic process ISS
 biological_processGO:1903428 positive regulation of reactive oxygen species biosynthetic process IEA
 biological_processGO:1903599 positive regulation of autophagy of mitochondrion NAS
 biological_processGO:1905259 negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway IDA
 biological_processGO:2000157 negative regulation of ubiquitin-specific protease activity IDA
 biological_processGO:2000277 positive regulation of oxidative phosphorylation uncoupler activity IEA
 biological_processGO:2000679 positive regulation of transcription regulatory region DNA binding IMP
 biological_processGO:2000825 positive regulation of androgen receptor activity IMP
 biological_processGO:2001237 negative regulation of extrinsic apoptotic signaling pathway IMP
 biological_processGO:2001268 negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway IMP
 cellular_componentGO:0000785 chromatin IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IMP
 cellular_componentGO:0005747 mitochondrial respiratory chain complex I IDA
 cellular_componentGO:0005758 mitochondrial intermembrane space IEA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005913 cell-cell adherens junction IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016605 PML body IDA
 cellular_componentGO:0030424 axon ISS
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0044297 cell body IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0098793 presynapse IEA
 molecular_functionGO:0003713 transcription coactivator activity TAS
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003729 mRNA binding IDA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005507 copper ion binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0016532 superoxide dismutase copper chaperone activity IDA
 molecular_functionGO:0016684 oxidoreductase activity, acting on peroxide as acceptor IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019900 kinase binding IPI
 molecular_functionGO:0019955 cytokine binding IPI
 molecular_functionGO:0036470 tyrosine 3-monooxygenase activator activity IDA
 molecular_functionGO:0036478 L-dopa decarboxylase activator activity IDA
 molecular_functionGO:0036524 protein deglycase activity IDA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0044388 small protein activating enzyme binding IPI
 molecular_functionGO:0044390 ubiquitin-like protein conjugating enzyme binding IPI
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0045340 mercury ion binding IDA
 molecular_functionGO:0050681 androgen receptor binding IPI
 molecular_functionGO:0051920 peroxiredoxin activity IEA
 molecular_functionGO:0070491 repressing transcription factor binding IPI
 molecular_functionGO:0097110 scaffold protein binding IPI
 molecular_functionGO:1903135 cupric ion binding IDA
 molecular_functionGO:1903136 cuprous ion binding IDA
 molecular_functionGO:1990381 ubiquitin-specific protease binding IPI


Pathways (from Reactome)
Pathway description
SUMOylation of transcription cofactors


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:0000643 Blepharospasm "An involuntary recurrent spasm of both eyelids." [HPO:curators]
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 HP:0000725 Psychotic episodes 
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 HP:0000739 Anxiety 
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 HP:0002063 Rigidity 
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 HP:0002067 Bradykinesia "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators]
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 HP:0002174 Postural tremor "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators]
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 HP:0002322 Resting tremor "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:curators]
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 HP:0003581 Onset in adulthood 
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 HP:0003677 Slow progression 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / reaction / complex






 

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