Human Gene C11orf11 (R3237) Description and Page Index
Description: neural stem cell-derived dendrite regulator RefSeq Summary (NM_006133): This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC150176.1, BC152453.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257215.10/ ENSP00000257215.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg17 chr11:61,204,486-61,271,048 Size: 66,563 Total Exon Count: 20 Strand: + Coding Region Position: hg17 chr11:61,244,204-61,268,537 Size: 24,334 Coding Exon Count: 19
ID:DGLA_HUMAN DESCRIPTION: RecName: Full=Sn1-specific diacylglycerol lipase alpha; Short=DGL-alpha; EC=3.1.1.-; AltName: Full=Neural stem cell-derived dendrite regulator; 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. COFACTOR: Calcium. ENZYME REGULATION: Inhibited by p-hydroxy-mercuri-benzoate and HgCl(2), but not to PMSF. Also inhibited by RHC80267, a drug that blocks 2-AG formation. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=154.7 uM for diacylglycerol; Vmax=33.3 nmol/min/mg enzyme; pH dependence: Optimum pH is 7.0; SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Highly expressed in brain and pancreas. DISEASE: Defects in DAGLA may be a cause of spinocerebellar ataxia type 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. Note=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. SIMILARITY: Belongs to the AB hydrolase superfamily. Lipase family. SEQUENCE CAUTION: Sequence=BAA31634.2; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y4D2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.