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 Wednesday, January 23, 2013.)

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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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Dtnbp1
  • participates in the following biological processes:
    • actin cytoskeleton reorganization ^[8]
    • neuron projection morphogenesis ^[8]
    • organelle organization ^[5]
  • is located in the following cellular components:
    • axon ^[2]
    • axon part ^[8]
    • BLOC-1 complex ^{[3, 6]}
    • cytoplasm ^[2]
    • dendritic spine ^[8]
    • endoplasmic reticulum membrane ^[8]
    • growth cone ^[8]
    • nucleus ^[2]
    • plasma membrane ^[2]
    • postsynaptic density ^[8]
    • sarcolemma ^[2]
    • sarcoplasm ^[1]
    • synaptic vesicle membrane ^[8]
• The gene product of Dtnbp1 has been shown to bind to the gene products of Bloc1s5, Bloc1s6, Cmya5, Dtna, Snapin. ^{[1, 2, 4, 5, 8]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Dtnbp1
  • participates in the following biological processes:
    • anterograde axon cargo transport ^[4]
    • anterograde synaptic vesicle transport ^[4]
    • blood coagulation ^[7]
    • platelet dense granule organization ^[7]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Dtnbp1:
  • participates in the following biological processes:
    • neuron projection development
  • is located in the following cellular components:
    • BLOC-1 complex
    • neuron projection
    • postsynaptic density
    • synaptic vesicle membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Dtnbp1 indicates that it:
  • participates in the following biological processes:
    • response to stimulus
  • is located in the following cellular components:
    • cell junction
    • cytoplasmic vesicle
    • endoplasmic reticulum
    • endosome
    • membrane
    • postsynaptic membrane
    • synapse

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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. 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)
4. 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)
5. 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)
6. 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)
7. Swank RT et al. (1991) Sandy: a new mouse model for platelet storage pool deficiency. Genet Res, 58:51-62. (PubMed:1936982)
8. 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)

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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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