======= GNPTAB =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GNPTAB
  * **<color #00a2e8>Official Name</color>**: N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79158|79158]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q3T906|Q3T906]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GNPTAB&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GNPTAB|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607840|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment. {ECO:0000269|PubMed:19955174, ECO:0000269|PubMed:23733939, ECO:0000269|PubMed:28918368}.

<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'>
|DMAP binding|
|Notch|
|DUF3184|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|N-glycan processing to lysosome|
|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|
|secretion of lysosomal enzymes|
|N-glycan processing|
|protein targeting to lysosome|
|carbohydrate phosphorylation|
|protein targeting to vacuole|
|protein localization to lysosome|
|establishment of protein localization to vacuole|
|lytic vacuole organization|
|lysosome organization|
|protein localization to vacuole|
|lysosomal transport|
|vacuole organization|
|vacuolar transport|
|protein secretion|
|establishment of protein localization to extracellular region|
|protein localization to extracellular region|
|cellular carbohydrate metabolic process|
|peptide secretion|
|protein targeting|
|glycoprotein metabolic process|
|establishment of protein localization to organelle|
|carbohydrate metabolic process|
|Golgi membrane|
|calcium ion binding|
|protein localization to organelle|
|Golgi apparatus|
|intracellular protein transport|
|secretion by cell|
|carbohydrate derivative metabolic process|
|export from cell|
|secretion|
|phosphorylation|
|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|
</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:exp490|Hydroxychloroquine 30μM R08 exp490]]|-1.78|
|[[:results:exp243|S-trityl-L-cysteine 0.5μM R05 exp243]]|1.71|
|[[:results:exp58|UM131593 0.1μM R01 exp58]]|1.71|
|[[:results:exp519|RS-1 10μM R08 exp519]]|1.88|
</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>**: 2861
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.24 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GNPTAB Expression in NALM6 Cells: 6.24'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>