Entity Details

Primary name DGLA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y4D2
EntryNameDGLA_HUMAN
FullNameDiacylglycerol lipase-alpha
TaxID9606
Evidenceevidence at protein level
Length1042
SequenceStatuscomplete
DateCreated2006-09-05
DateModified2021-06-02

Ontological Relatives

GenesDAGLA

GO terms

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GOName
GO:0005886 plasma membrane
GO:0007216 G protein-coupled glutamate receptor signaling pathway
GO:0007405 neuroblast proliferation
GO:0016787 hydrolase activity
GO:0019369 arachidonic acid metabolic process
GO:0022008 neurogenesis
GO:0031901 early endosome membrane
GO:0032590 dendrite membrane
GO:0032591 dendritic spine membrane
GO:0042136 neurotransmitter biosynthetic process
GO:0043196 varicosity
GO:0045211 postsynaptic membrane
GO:0046340 diacylglycerol catabolic process
GO:0046872 metal ion binding
GO:0071926 endocannabinoid signaling pathway
GO:0098839 postsynaptic density membrane
GO:0098921 retrograde trans-synaptic signaling by endocannabinoid
GO:0099055 integral component of postsynaptic membrane
GO:0150077 regulation of neuroinflammatory response

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cell projection
Early endosome membrane

Domains

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DomainNameCategoryType
IPR002921 Fungal lipase-like domainDomainDomain
IPR029058 Alpha/Beta hydrolase foldFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
608687 OMIMSpinocerebellar ataxia 20 (SCA20)Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA20 is an autosomal dominant, adult-onset form characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia. The disease may be caused by variants affecting the gene represented in this entry. A copy number variation consisting of a 260-kb duplication at chromosome 11q12.2-12.3 is responsible for SCA20. The critical gene within the duplicated segment may be DAGLA.