Entity Details

Primary name PNKD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N490
EntryNamePNKD_HUMAN
FullNameProbable hydrolase PNKD
TaxID9606
Evidenceevidence at protein level
Length385
SequenceStatuscomplete
DateCreated2007-09-11
DateModified2021-06-02

Ontological Relatives

GenesPNKD

GO terms

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GOName
GO:0004416 hydroxyacylglutathione hydrolase activity
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0016020 membrane
GO:0019243 methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione
GO:0032225 regulation of synaptic transmission, dopaminergic
GO:0042053 regulation of dopamine metabolic process
GO:0046872 metal ion binding
GO:0046929 negative regulation of neurotransmitter secretion
GO:0050884 neuromuscular process controlling posture

Subcellular Location

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Subcellular Location
Cytoplasm
Membrane
Mitochondrion
Nucleus

Domains

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DomainNameCategoryType
IPR001279 Metallo-beta-lactamaseDomainDomain
IPR017782 Hydroxyacylglutathione hydrolaseFamilyFamily
IPR032282 Hydroxyacylglutathione hydrolase, C-terminal domainDomainDomain
IPR035680 Hydroxyacylglutathione hydrolase, MBL domainDomainDomain
IPR036866 Ribonuclease Z/Hydroxyacylglutathione hydrolase-likeFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
118800 OMIMDystonia 8 (DYT8)A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face. The disease is caused by variants affecting the gene represented in this entry.