DTNBP1 [The Human Chemical-Genetic Interaction Map Project]

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
======= DTNBP1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: DTNBP1
  * **<color #00a2e8>Official Name</color>**: dystrobrevin binding protein 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=84062|84062]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96EV8|Q96EV8]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DTNBP1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DTNBP1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607145|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2 pathway. {ECO:0000269|PubMed:15345706, ECO:0000269|PubMed:16837549, ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:17989303, ECO:0000269|PubMed:19094965, ECO:0000269|PubMed:20180862, ECO:0000269|PubMed:20921223}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Dysbindin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|platelet dense granule organization|
|sarcoplasm|
|regulation of dopamine receptor signaling pathway|
|melanosome membrane|
|synaptic vesicle transport along microtubule|
|synaptic vesicle cytoskeletal transport|
|anterograde synaptic vesicle transport|
|BLOC-1 complex|
|positive regulation of neurotransmitter secretion|
|melanosome organization|
|pigment granule organization|
|hippocampal mossy fiber to CA3 synapse|
|regulation of cellular response to drug|
|synaptic vesicle transport|
|secretory granule organization|
|positive regulation of neurotransmitter transport|
|regulation of dopamine secretion|
|synaptic vesicle localization|
|vesicle transport along microtubule|
|anterograde axonal transport|
|cellular pigmentation|
|vesicle cytoskeletal trafficking|
|axonal transport|
|axon cytoplasm|
|dendrite morphogenesis|
|regulation of catecholamine secretion|
|actin cytoskeleton reorganization|
|axo-dendritic transport|
|synaptic vesicle membrane|
|regulation of synaptic vesicle exocytosis|
|organelle transport along microtubule|
|Schaffer collateral - CA1 synapse|
|regulation of JUN kinase activity|
|pigmentation|
|regulation of amine transport|
|regulation of response to drug|
|sarcolemma|
|dendrite development|
|negative regulation of protein binding|
|regulation of neurotransmitter secretion|
|regulation of synaptic vesicle cycle|
|growth cone|
|negative regulation of protein serine/threonine kinase activity|
|regulation of neurotransmitter transport|
|dendritic spine|
|positive regulation of synaptic transmission|
|microtubule cytoskeleton|
|transport along microtubule|
|midbody|
|regulation of regulated secretory pathway|
|negative regulation of binding|
|establishment of vesicle localization|
|cytoskeleton-dependent intracellular transport|
|microtubule-based transport|
|vesicle localization|
|regulation of JNK cascade|
|postsynaptic membrane|
|endosome membrane|
|regulation of protein binding|
|regulation of exocytosis|
|negative regulation of protein kinase activity|
|regulation of stress-activated MAPK cascade|
|regulation of stress-activated protein kinase signaling cascade|
|negative regulation of kinase activity|
|postsynaptic density|
|microtubule-based movement|
|negative regulation of transferase activity|
|blood coagulation|
|coagulation|
|axon|
|hemostasis|
|vesicle organization|
|neuron projection|
|regulation of MAP kinase activity|
|glutamatergic synapse|
|regulation of neurotransmitter levels|
|establishment of organelle localization|
|regulation of binding|
|positive regulation of secretion by cell|
|negative regulation of protein phosphorylation|
|endomembrane system organization|
|cell morphogenesis involved in neuron differentiation|
|positive regulation of secretion|
|modulation of chemical synaptic transmission|
|regulation of trans-synaptic signaling|
|negative regulation of phosphorylation|
|wound healing|
|neuron projection morphogenesis|
|plasma membrane bounded cell projection morphogenesis|
|cell projection morphogenesis|
|actin cytoskeleton organization|
|regulation of body fluid levels|
|cell part morphogenesis|
|regulation of protein serine/threonine kinase activity|
|cell junction|
|regulation of vesicle-mediated transport|
|cell morphogenesis involved in differentiation|
|negative regulation of phosphate metabolic process|
|negative regulation of phosphorus metabolic process|
|actin filament-based process|
|response to wounding|
|organelle localization|
|negative regulation of protein modification process|
|neuron projection development|
|microtubule-based process|
|regulation of ion transport|
|cell morphogenesis|
|regulation of cellular response to stress|
|regulation of secretion by cell|
|regulation of MAPK cascade|
|negative regulation of catalytic activity|
|regulation of protein kinase activity|
|regulation of secretion|
|neuron development|
|cellular component morphogenesis|
|regulation of kinase activity|
|regulation of cellular localization|
|endoplasmic reticulum membrane|
|regulation of transferase activity|
|positive regulation of transport|
|neuron differentiation|
|negative regulation of cellular protein metabolic process|
|negative regulation of protein metabolic process|
|cytoskeleton organization|
|plasma membrane bounded cell projection organization|
|negative regulation of molecular function|
|cell projection organization|
|regulation of protein phosphorylation|
|regulation of response to stress|
|intracellular transport|
|generation of neurons|
|movement of cell or subcellular component|
|regulation of phosphorylation|
|neurogenesis|
|cell development|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|establishment of localization in cell|
|regulation of protein modification process|
|regulation of transport|
|positive regulation of gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp33|Rotenone 2μM R00 exp33]]|-1.94|
|[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|2.35|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 13126
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.39 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DTNBP1 Expression in NALM6 Cells: 4.39'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>