PMEL [The Human Chemical-Genetic Interaction Map Project]

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======= PMEL =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PMEL
  * **<color #00a2e8>Official Name</color>**: premelanosome protein
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6490|6490]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P40967|P40967]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PMEL&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PMEL|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/155550|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity. {ECO:0000269|PubMed:11694580, ECO:0000269|PubMed:21962903}.

<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'>
|PKD|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|multivesicular body membrane|
|melanin biosynthetic process|
|melanin metabolic process|
|secondary metabolite biosynthetic process|
|melanosome organization|
|pigment granule organization|
|phenol-containing compound biosynthetic process|
|cellular pigmentation|
|pigment biosynthetic process|
|secondary metabolic process|
|pigment metabolic process|
|phenol-containing compound metabolic process|
|pigmentation|
|melanosome|
|organic hydroxy compound biosynthetic process|
|vesicle organization|
|organic hydroxy compound metabolic process|
|endoplasmic reticulum membrane|
|Golgi apparatus|
|identical protein binding|
|aromatic compound biosynthetic process|
|organic cyclic compound biosynthetic process|
|integral component of plasma membrane|
|extracellular region|
</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:exp33|Rotenone 2μM R00 exp33]]|-1.74|
|[[:results:exp52|Ribavirin 10μM R01 exp52]]|1.77|
|[[:results:exp223|Cabazitaxel 0.001μM R05 exp223]]|1.81|
|[[:results:exp469|CFI-400945 25μM R08 exp469]]|1.81|
|[[:results:exp53|Suberoylanilide-Hydroxamic-Acid 0.02μM R01 exp53]]|1.84|
|[[:results:exp45|Docetaxel 0.002μM R01 exp45]]|2.02|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:ruvbl2|RUVBL2]]|0.533|
</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>**: 7085
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.31 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PMEL Expression in NALM6 Cells: 1.31'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>