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0DTBP1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameDTNBP1
DescriptionDystrobrevin binding protein 1 (dysbindin) (hermansky-pudlak syndrome 7 protein).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0030424 axon (ISS)
0005737 cytoplasm (ISS)
0005634 nucleus (ISS)
0042383 sarcolemma (ISS)
0042802 protein self binding (IPI)
0006996 organelle organization and biogenesis (ISS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Dysbindin is an evolutionary conserved 40-kDa coiled-coil-containing protein that binds to alpha- and beta-dystrobrevin in muscle and brain. Dystrophin and alpha-dystrobrevin are co-immunoprecipitated with dysbindin.ndicating that dysbindin is DPC-associated in muscle. Dysbindin co-localises with alpha-dystrobrevin at the sarcolemma and is up-regulated in dystrophin-deficient muscle. In the brain.ysbindin is found primarily in axon bundles and especially in certain axon terminals.otably mossy fibre synaptic terminals in the cerebellum and hippocampus. Dysbindin may have implications for the molecular pathology of Duchenne muscular dystrophy and may provide an alternative route for anchoring dystrobrevin and the DPC to the muscle membrane . Genetic variation in the human dysbindin gene is also thought to be associated with Schizophrenia ..
  IPR007531:Dysbindin
IPR007531:Dysbindin 
Evalue:-77.1023712158203 
Location:173-331
SequencesProtein: DTBP1_HUMAN (351 aa)
mRNA: AK054593 NM_032122
Local Annotation
Synapse Ontology
Various stages of the synaptic vesicle cycle, including attachment, prefusion, triggering, recycling and reloading of the vesicles with transmitter.
sdb:0098 synaptic vesicle cycling  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 138 residues, 15631017-15631429Exon2: 50 residues, 15632735-15632879Exon3: 54 residues, 15641449-15641605Exon4: 9 residues, 15701268-15701291Exon5: 46 residues, 15723476-15723609Exon6: 46 residues, 15735552-15735685Exon7: 22 residues, 15745953-15746014Exon8: 19 residues, 15759522-15759573Exon9: 20 residues, 15760296-15760350Exon10: 77 residues, 15771023-15771250Exon11: 2 residues, -Jump to DTBP1_HUMANExon1: 137 residues, 15631019-15631429Exon2: 50 residues, 15632735-15632879Exon3: 54 residues, 15641449-15641605Exon4: 9 residues, 15701268-15701291Exon5: 46 residues, 15723476-15723609Exon6: 46 residues, 15735552-15735685Exon7: 22 residues, 15745953-15746014Exon8: 34 residues, 15759522-15759618Exon9: 20 residues, 15760296-15760350Exon10: 58 residues, 15771023-15771192Exon11: 2 residues, -Jump to DTBP1_HUMAN  
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