======= HPS1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: HPS1
  * **<color #00a2e8>Official Name</color>**: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3257|3257]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q92902|Q92902]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HPS1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HPS1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/604982|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. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991). {ECO:0000269|PubMed:23084991}.

<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'>
|BLOC-3 complex|
|melanosome assembly|
|melanosome organization|
|pigment granule organization|
|cellular pigmentation|
|lytic vacuole organization|
|lysosome organization|
|pigmentation|
|guanyl-nucleotide exchange factor activity|
|vacuole organization|
|protein dimerization activity|
|visual perception|
|sensory perception of light stimulus|
|lysosome|
|cytoplasmic vesicle|
|vesicle organization|
|organelle assembly|
|sensory perception|
|nervous system process|
|system process|
</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:exp529|Thimerosal 0.85μM R08 exp529]]|-1.98|
|[[:results:exp534|Trientine 500μM R08 exp534]]|-1.94|
|[[:results:exp223|Cabazitaxel 0.001μM R05 exp223]]|-1.84|
|[[:results:exp495|IWR1 50μM R08 exp495]]|-1.76|
|[[:results:exp319|ABT-702 5μM plus Dimethyloxaloylglycine 11μM R07 exp319]]|1.73|
|[[:results:exp393|Resminostat 0.5μM R07 exp393]]|1.8|
|[[:results:exp1|5-Fluorouracil 2μM R00 exp1]]|2.17|
</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>**: 11907
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.99 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='HPS1 Expression in NALM6 Cells: 4.99'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>