DENND5A [The Human Chemical-Genetic Interaction Map Project]

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======= DENND5A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: DENND5A
  * **<color #00a2e8>Official Name</color>**: DENN domain containing 5A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=23258|23258]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6IQ26|Q6IQ26]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DENND5A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DENND5A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/617278|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of neurite outgrowth (By similarity). {ECO:0000250|UniProtKB:G3V7Q0, ECO:0000269|PubMed:20937701}.

<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'>
|RUN|
|dDENN|
|uDENN|
|PLAT|
|DENN|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|retromer complex|
|Rab guanyl-nucleotide exchange factor activity|
|retrograde transport, endosome to Golgi|
|cytosolic transport|
|negative regulation of neuron projection development|
|trans-Golgi network|
|negative regulation of cell projection organization|
|negative regulation of neuron differentiation|
|endosomal transport|
|negative regulation of neurogenesis|
|negative regulation of nervous system development|
|negative regulation of cell development|
|regulation of neuron projection development|
|Golgi membrane|
|regulation of neuron differentiation|
|regulation of plasma membrane bounded cell projection organization|
|negative regulation of cellular component organization|
|regulation of cell projection organization|
|negative regulation of cell differentiation|
|regulation of neurogenesis|
|regulation of nervous system development|
|regulation of cell development|
|negative regulation of developmental process|
|negative regulation of multicellular organismal process|
|intracellular transport|
|generation of neurons|
|neurogenesis|
|regulation of cell differentiation|
|establishment of localization in cell|
|vesicle-mediated 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:exp393|Resminostat 0.5μM R07 exp393]]|1.81|
|[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|2.06|
</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>**: 13640
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.73 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DENND5A Expression in NALM6 Cells: 5.73'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>