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Gene Ontology Classifications
Symbol
Name
ID
Dtnbp1
dystrobrevin binding protein 1
MGI:2137586

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Dtnbp1. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. Benson MA et al. (2004) Myospryn is a novel binding partner for dysbindin in muscle. J Biol Chem, 279:10450-8. (PubMed:14688250)
  2. Benson MA et al. (2001) Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain. J Biol Chem, 276:24232-41. (PubMed:11316798)
  3. Chen XW et al. (2008) DTNBP1, a schizophrenia susceptibility gene, affects kinetics of transmitter release. J Cell Biol, 181:791-801. (PubMed:18504299)
  4. Fei E et al. (2010) Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression. J Biol Chem, 285:38630-40. (PubMed:20921223)
  5. Ghiani CA et al. (2010) The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. Mol Psychiatry, 15:115, 204-15. (PubMed:19546860)
  6. Ji Y et al. (2009) Role of dysbindin in dopamine receptor trafficking and cortical GABA function. Proc Natl Acad Sci U S A, 106:19593-8. (PubMed:19887632)
  7. Larimore J et al. (2011) The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell, 22:4854-67. (PubMed:21998198)
  8. Li W et al. (2003) Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet, 35:84-9. (PubMed:12923531)
  9. Setty SR et al. (2007) BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol Biol Cell, 18:768-80. (PubMed:17182842)
  10. Swank RT et al. (1991) Sandy: a new mouse model for platelet storage pool deficiency. Genet Res, 58:51-62. (PubMed:1936982)
  11. Talbot K et al. (2006) Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin. Hum Mol Genet, 15:3041-54. (PubMed:16980328)
  12. Yang Q et al. (2012) The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic, 13:1160-9. (PubMed:22554196)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory