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 

Page IndexSequence and LinksUniProtKB CommentsMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesMethods
Data last updated: 2005-06-03

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:61,204,486-61,271,048)mRNA (may differ from genome)Protein (1042 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HPRDMGIOMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  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;

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.60111-0.510 Picture PostScript Text
3' UTR -1187.012511-0.473 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002921 - Lipase_3

Pfam Domains:
PF01764 - Lipase (class 3)

ModBase Predicted Comparative 3D Structure on Q9Y4D2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
MGI EnsemblFlyBaseWormBaseSGD
Protein Sequence  Protein SequenceProtein SequenceProtein Sequence
Alignment  AlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016787 hydrolase activity
GO:0046872 metal ion binding
GO:0047372 acylglycerol lipase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0007216 G-protein coupled glutamate receptor signaling pathway
GO:0007405 neuroblast proliferation
GO:0016042 lipid catabolic process
GO:0019369 arachidonic acid metabolic process
GO:0022008 neurogenesis
GO:0042136 neurotransmitter biosynthetic process
GO:0046340 diacylglycerol catabolic process
GO:0071926 endocannabinoid signaling pathway
GO:0098921 retrograde trans-synaptic signaling by endocannabinoid

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043196 varicosity
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  BC150176 - Homo sapiens diacylglycerol lipase, alpha, mRNA (cDNA clone MGC:164868 IMAGE:40148003), complete cds.
BC150195 - Homo sapiens diacylglycerol lipase, alpha, mRNA (cDNA clone MGC:165019 IMAGE:40148734), complete cds.
AB014559 - Homo sapiens KIAA0659 mRNA for KIAA0659 protein.
BC152453 - Homo sapiens diacylglycerol lipase, alpha, mRNA (cDNA clone MGC:176707 IMAGE:8862586), complete cds.
JD278776 - Sequence 259800 from Patent EP1572962.
JD335448 - Sequence 316472 from Patent EP1572962.
JD193359 - Sequence 174383 from Patent EP1572962.
JD064960 - Sequence 45984 from Patent EP1572962.
AB383944 - Synthetic construct DNA, clone: pF1KSDA0659, Homo sapiens DAGLA gene for Sn1-specific diacylglycerol lipase alpha, complete cds, without stop codon, in Flexi system.
AY275377 - Homo sapiens neural stem cell-derived dendrite regulator (NSDDR) mRNA, complete cds.
JD482990 - Sequence 464014 from Patent EP1572962.
JD121366 - Sequence 102390 from Patent EP1572962.
JD121367 - Sequence 102391 from Patent EP1572962.
JD220756 - Sequence 201780 from Patent EP1572962.
JD402028 - Sequence 383052 from Patent EP1572962.
JD389578 - Sequence 370602 from Patent EP1572962.
JD277696 - Sequence 258720 from Patent EP1572962.
JD310877 - Sequence 291901 from Patent EP1572962.
JD437649 - Sequence 418673 from Patent EP1572962.
JD193811 - Sequence 174835 from Patent EP1572962.
JD201729 - Sequence 182753 from Patent EP1572962.
JD382575 - Sequence 363599 from Patent EP1572962.
JD065658 - Sequence 46682 from Patent EP1572962.
JD148396 - Sequence 129420 from Patent EP1572962.
JD536780 - Sequence 517804 from Patent EP1572962.
JD473741 - Sequence 454765 from Patent EP1572962.
JD424293 - Sequence 405317 from Patent EP1572962.
JD081326 - Sequence 62350 from Patent EP1572962.
JD230482 - Sequence 211506 from Patent EP1572962.
JD420858 - Sequence 401882 from Patent EP1572962.
JD054946 - Sequence 35970 from Patent EP1572962.
JD477477 - Sequence 458501 from Patent EP1572962.
JD068660 - Sequence 49684 from Patent EP1572962.
JD547501 - Sequence 528525 from Patent EP1572962.
JD550606 - Sequence 531630 from Patent EP1572962.
JD243949 - Sequence 224973 from Patent EP1572962.
JD060005 - Sequence 41029 from Patent EP1572962.
JD253670 - Sequence 234694 from Patent EP1572962.
JD102697 - Sequence 83721 from Patent EP1572962.
JD217078 - Sequence 198102 from Patent EP1572962.
JD157124 - Sequence 138148 from Patent EP1572962.
JD456643 - Sequence 437667 from Patent EP1572962.
JD115966 - Sequence 96990 from Patent EP1572962.
JD055405 - Sequence 36429 from Patent EP1572962.
JD399645 - Sequence 380669 from Patent EP1572962.
JD192694 - Sequence 173718 from Patent EP1572962.
JD193964 - Sequence 174988 from Patent EP1572962.
JD383883 - Sequence 364907 from Patent EP1572962.
JD475787 - Sequence 456811 from Patent EP1572962.
JD415704 - Sequence 396728 from Patent EP1572962.
JD480648 - Sequence 461672 from Patent EP1572962.
JD343194 - Sequence 324218 from Patent EP1572962.
JD216054 - Sequence 197078 from Patent EP1572962.
JD160213 - Sequence 141237 from Patent EP1572962.
JD316008 - Sequence 297032 from Patent EP1572962.
JD049600 - Sequence 30624 from Patent EP1572962.
JD098592 - Sequence 79616 from Patent EP1572962.
JD541820 - Sequence 522844 from Patent EP1572962.
JD563006 - Sequence 544030 from Patent EP1572962.
JD365623 - Sequence 346647 from Patent EP1572962.
JD189067 - Sequence 170091 from Patent EP1572962.
JD130329 - Sequence 111353 from Patent EP1572962.
JD096970 - Sequence 77994 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AB014559, AY275377, KIAA0659, NSDDR
UCSC ID: NM_006133
RefSeq Accession: NM_006133
Protein: Q9Y4D2 (aka DGLA_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.