======= GPHN =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GPHN
  * **<color #00a2e8>Official Name</color>**: gephyrin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10243|10243]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NQX3|Q9NQX3]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GPHN&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GPHN|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603930|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. {ECO:0000269|PubMed:26613940}.

<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'>
|MoCF biosynth|
|MoeA N|
|MoeA C|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|molybdopterin adenylyltransferase activity|
|glycine receptor clustering|
|molybdenum incorporation into molybdenum-molybdopterin complex|
|molybdopterin molybdotransferase activity|
|metal incorporation into metallo-molybdopterin complex|
|postsynaptic specialization|
|postsynaptic specialization membrane|
|establishment of synaptic specificity at neuromuscular junction|
|gamma-aminobutyric acid receptor clustering|
|nitrate reductase activity|
|Mo-molybdopterin cofactor metabolic process|
|molybdopterin cofactor binding|
|Mo-molybdopterin cofactor biosynthetic process|
|prosthetic group metabolic process|
|molybdopterin cofactor metabolic process|
|molybdopterin cofactor biosynthetic process|
|neurotransmitter-gated ion channel clustering|
|receptor diffusion trapping|
|postsynaptic neurotransmitter receptor diffusion trapping|
|neurotransmitter receptor diffusion trapping|
|protein localization to postsynaptic specialization membrane|
|neurotransmitter receptor localization to postsynaptic specialization membrane|
|postsynaptic membrane organization|
|protein localization to postsynaptic membrane|
|receptor localization to synapse|
|neuromuscular junction development|
|receptor clustering|
|regulation of postsynaptic membrane neurotransmitter receptor levels|
|protein localization to synapse|
|localization within membrane|
|postsynapse organization|
|coenzyme biosynthetic process|
|postsynaptic membrane|
|cofactor biosynthetic process|
|protein localization to cell periphery|
|coenzyme metabolic process|
|postsynaptic density|
|protein-containing complex localization|
|synapse organization|
|cytoskeleton|
|response to metal ion|
|dendrite|
|cofactor metabolic process|
|protein localization to membrane|
|response to inorganic substance|
|organophosphate biosynthetic process|
|cell junction|
|protein localization to organelle|
|membrane organization|
|organophosphate metabolic process|
|oxidation-reduction process|
|heterocycle biosynthetic process|
|organic cyclic compound biosynthetic process|
|organonitrogen compound biosynthetic process|
|ATP binding|
|cellular protein localization|
|cellular macromolecule localization|
</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:exp399|Salubrinal 20μM R07 exp399]]|1.77|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.517|
</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>**: 15018
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.42 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GPHN Expression in NALM6 Cells: 5.42'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>