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PARK7 Parkinson disease (autosomal recessive, early onset) 7 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_007262 Homo sapiens Parkinson disease (autosomal recessive, early onset) 7 (PARK7), transcript variant 1, mRNA. Full Length $283.91
ORF Sequence $165.30
NM_001123377 Homo sapiens Parkinson disease (autosomal recessive, early onset) 7 (PARK7), transcript variant 2, mRNA. Full Length $267.09
ORF Sequence $165.30


Gene Symbol PARK7
Entrez Gene ID 11315
Full Name Parkinson disease (autosomal recessive, early onset) 7
Synonyms DJ-1, DJ1, FLJ27376, FLJ34360, FLJ92274
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1p36.23

Summary The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq].
Disorder

MIM: 602533

Parkinson disease 7, autosomal recessive early-onset, 606324 (3);

mRNA NM_007262, 183227676
Protein NP_009193, 31543380
Product protein DJ-1
RefSeq Status REVIEWED
mRNA NM_001123377, 183227677
Protein NP_001116849, 183227678
Product protein DJ-1
RefSeq Status REVIEWED
KEGG
hsa05012Parkinson's disease
Pathway Interaction Database
alphasynuclein_pathwayAlpha-synuclein signaling
Homo sapiens (human)PARK7NP_001116849.1
Pan troglodytes (chimpanzee)PARK7XP_001158093.1
Canis lupus familiaris (dog)PARK7XP_536733.1
Bos taurus (cattle)PARK7NP_001015572.1
Mus musculus (house mouse)Park7NP_065594.2
Rattus norvegicus (Norway rat)Park7NP_476484.1
Gallus gallus (chicken)PARK7NP_989916.1
Danio rerio (zebrafish)park7NP_001005938.1
Drosophila melanogaster (fruit fly)dj-1betaNP_651825.3
Drosophila melanogaster (fruit fly)DJ-1alphaNP_610916.1
Caenorhabditis elegansdjr-1.1NP_493696.1
Caenorhabditis elegansdjr-1.2NP_504132.1
Process
IDNameEvidence
GO:0006914autophagyIEA
GO:0007005mitochondrion organizationISS
GO:0007338single fertilizationIEA
GO:0008344adult locomotory behaviorIEA
GO:0032091negative regulation of protein bindingIDA
GO:0034599cellular response to oxidative stressIEA
GO:0042493response to drugIEA
GO:0042743hydrogen peroxide metabolic processIEA
GO:0043526neuroprotectionIDA
GO:0050727regulation of inflammatory responseISS
GO:0050821protein stabilizationIMP
GO:0051583dopamine uptakeIEA
GO:0051899membrane depolarizationIEA
GO:0060081membrane hyperpolarizationIEA
GO:0060548negative regulation of cell deathIDA
GO:0060765regulation of androgen receptor signaling pathwayIDA
GO:0070301cellular response to hydrogen peroxideIDA
GO:2000277positive regulation of oxidative phosphorylation uncoupler activityIEA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005737cytoplasmIDA
GO:0005739mitochondrionIDA
GO:0005829cytosolIEA
GO:0030424axonIEA
Function
IDNameEvidence
GO:0003729mRNA bindingIDA
GO:0004601peroxidase activityISS
GO:0005515protein bindingIPI
GO:0008233peptidase activityIDA
GO:0042803protein homodimerization activityIDA
GO:0051920peroxiredoxin activityIEA
GeneCards PARK7
PDB 2OR3, 1UCF, 3BWE, 2R1U, 3EZG, 1SOA, 3CZ9, 2R1V, 3B3A, 3B36, 1Q2U, 1PDW, 1J42, 2RK4, 3CZA, 3B38, 1PDV, 3CYF, 1PE0, 2R1T, 2RK6, 2RK3, 3F71, 3CY6, 1P5F
UniProt Q99497
MIM 602533
Ensembl ENSG00000116288
HGNC 16369
HPRD 03961

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