InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DAGLA

Summary

InnateDB Protein

IDBP-50257.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DAGLA

Protein Name

diacylglycerol lipase, alpha

Synonyms

C11orf11; DAGL(ALPHA); DAGLALPHA; NSDDR;

Species

Homo sapiens

Ensembl Protein

ENSP00000257215

InnateDB Gene

IDBG-50255 (DAGLA)

Protein Structure

UniProt Annotation

Function

Catalyzes the hydrolysis of diacylglycerol (DAG) to 2- arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses. {ECO:0000269PubMed:14610053}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein.

Disease Associations

Spinocerebellar ataxia 20 (SCA20) [MIM:608687]: 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. {ECO:0000269PubMed:18801880}. Note=The disease may be caused by mutations 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.

Tissue Specificity

Highly expressed in brain and pancreas. {ECO:0000269PubMed:14610053, ECO:0000269PubMed:16051747}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004806	triglyceride lipase activity
GO:0046872	metal ion binding

Biological Process

GO:0006629	lipid metabolic process
GO:0007405	neuroblast proliferation
GO:0007596	blood coagulation
GO:0008219	cell death
GO:0019369	arachidonic acid metabolic process
GO:0022008	neurogenesis
GO:0030168	platelet activation
GO:0042136	neurotransmitter biosynthetic process
GO:0046340	diacylglycerol catabolic process
GO:0071926	endocannabinoid signaling pathway