BLOC1S3 [The Human Chemical-Genetic Interaction Map Project]

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======= BLOC1S3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BLOC1S3
  * **<color #00a2e8>Official Name</color>**: biogenesis of lysosomal organelles complex 1 subunit 3
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=388552|388552]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6QNY0|Q6QNY0]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BLOC1S3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BLOC1S3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609762|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [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. Plays a role in intracellular vesicle trafficking. {ECO:0000269|PubMed:16385460, ECO:0000269|PubMed:17182842}.

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|secretion of lysosomal enzymes|
|platelet dense granule organization|
|pigment granule maturation|
|endosome to melanosome transport|
|endosome to pigment granule transport|
|pigment accumulation|
|cellular pigment accumulation|
|anterograde synaptic vesicle transport|
|synaptic vesicle cytoskeletal transport|
|synaptic vesicle transport along microtubule|
|BLOC-1 complex|
|protein transmembrane transporter activity|
|positive regulation of natural killer cell activation|
|melanosome transport|
|pigment granule transport|
|establishment of melanosome localization|
|establishment of pigment granule localization|
|melanosome localization|
|melanosome organization|
|pigment granule organization|
|pigment granule localization|
|pigment cell differentiation|
|regulation of natural killer cell activation|
|synaptic vesicle transport|
|secretory granule organization|
|developmental pigmentation|
|synaptic vesicle localization|
|anterograde axonal transport|
|vesicle transport along microtubule|
|cellular pigmentation|
|vesicle cytoskeletal trafficking|
|axonal transport|
|axon cytoplasm|
|protein transmembrane transport|
|axo-dendritic transport|
|organelle transport along microtubule|
|pigmentation|
|transport vesicle|
|platelet activation|
|transport along microtubule|
|protein secretion|
|establishment of protein localization to extracellular region|
|protein localization to extracellular region|
|peptide secretion|
|establishment of vesicle localization|
|cytoskeleton-dependent intracellular transport|
|microtubule-based transport|
|vesicle localization|
|developmental maturation|
|microtubule-based movement|
|blood coagulation|
|coagulation|
|hemostasis|
|vesicle organization|
|eye development|
|positive regulation of lymphocyte activation|
|visual system development|
|establishment of organelle localization|
|sensory system development|
|positive regulation of leukocyte activation|
|positive regulation of cell activation|
|endomembrane system organization|
|wound healing|
|regulation of body fluid levels|
|regulation of lymphocyte activation|
|sensory organ development|
|response to wounding|
|organelle localization|
|regulation of leukocyte activation|
|regulation of cell activation|
|neuron projection development|
|microtubule-based process|
|molecular function|
|neuron development|
|secretion by cell|
|neuron differentiation|
|response to drug|
|export from cell|
|cell activation|
|secretion|
|plasma membrane bounded cell projection organization|
|positive regulation of immune system process|
|cell projection organization|
|transmembrane transport|
|protein transport|
|intracellular transport|
|generation of neurons|
|peptide transport|
|movement of cell or subcellular component|
|amide transport|
|establishment of protein localization|
|neurogenesis|
|cell development|
|regulation of immune system process|
|establishment of localization in cell|
|nitrogen compound transport|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|2.12|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rabl6|RABL6]]|0.408|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^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>**: 8587
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.87 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BLOC1S3 Expression in NALM6 Cells: 3.87'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>