HPS4 [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.
======= HPS4 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: HPS4
  * **<color #00a2e8>Official Name</color>**: HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=89781|89781]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NQG7|Q9NQG7]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HPS4&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HPS4|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606682|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. COMPLETENESS: complete on the 3' end. 
  * **<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'>
|positive regulation of eye pigmentation|
|platelet dense granule|
|BLOC-3 complex|
|regulation of eye pigmentation|
|melanosome assembly|
|positive regulation of developmental pigmentation|
|regulation of developmental pigmentation|
|melanocyte differentiation|
|melanosome organization|
|pigment granule organization|
|pigment cell differentiation|
|positive regulation of protein targeting to mitochondrion|
|developmental pigmentation|
|regulation of protein targeting to mitochondrion|
|cellular pigmentation|
|positive regulation of establishment of protein localization to mitochondrion|
|lytic vacuole organization|
|lysosome organization|
|regulation of establishment of protein localization to mitochondrion|
|regulation of protein targeting|
|pigmentation|
|melanosome|
|guanyl-nucleotide exchange factor activity|
|positive regulation of mitochondrion organization|
|vacuole organization|
|Rab GTPase binding|
|positive regulation of intracellular protein transport|
|protein dimerization activity|
|protein stabilization|
|regulation of mitochondrion organization|
|positive regulation of intracellular transport|
|regulation of intracellular protein transport|
|lysosome|
|regulation of protein stability|
|blood coagulation|
|coagulation|
|hemostasis|
|vesicle organization|
|positive regulation of cellular protein localization|
|regulation of intracellular transport|
|protein targeting|
|positive regulation of protein transport|
|positive regulation of establishment of protein localization|
|wound healing|
|regulation of body fluid levels|
|regulation of cellular protein localization|
|response to wounding|
|positive regulation of organelle organization|
|regulation of protein transport|
|regulation of peptide transport|
|regulation of establishment of protein localization|
|organelle assembly|
|protein homodimerization activity|
|regulation of cellular localization|
|positive regulation of transport|
|intracellular protein transport|
|regulation of protein localization|
|positive regulation of cellular component organization|
|regulation of organelle organization|
|protein transport|
|intracellular transport|
|peptide transport|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|establishment of localization in cell|
|nitrogen compound transport|
|regulation of transport|
|membrane|
</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:exp459|Bleomycin 5μM R08 exp459]]|-2.22|
</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>**: 8905
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 9.86 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='HPS4 Expression in NALM6 Cells: 9.86'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>