======= DIAPH1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: DIAPH1
  * **<color #00a2e8>Official Name</color>**: diaphanous related formin 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1729|1729]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O60610|O60610]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DIAPH1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DIAPH1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/602121|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin structures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells. The MEMO1-RHOA- DIAPH1 signaling pathway plays an important role in ERBB2- dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755). {ECO:0000250|UniProtKB:O08808, ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:24781755, ECO:0000269|PubMed:26912466}.

<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'>
|Drf FH1|
|Drf GBD|
|FH2|
|Drf DAD|
|Drf FH3|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|cellular response to histamine|
|response to histamine|
|protein localization to microtubule|
|Rho GTPase binding|
|actin filament polymerization|
|protein localization to microtubule cytoskeleton|
|protein localization to cytoskeleton|
|actin polymerization or depolymerization|
|ficolin-1-rich granule membrane|
|mitotic spindle|
|regulation of release of sequestered calcium ion into cytosol|
|protein polymerization|
|ruffle membrane|
|secretory granule membrane|
|regulation of calcium ion transport into cytosol|
|regulation of sequestering of calcium ion|
|ion channel binding|
|cellular response to ammonium ion|
|sensory perception of sound|
|regulation of calcium ion transmembrane transport|
|regulation of cell shape|
|microtubule organizing center|
|sensory perception of mechanical stimulus|
|response to ammonium ion|
|regulation of microtubule-based process|
|actin filament organization|
|regulation of calcium ion transport|
|actin binding|
|regulation of cation transmembrane transport|
|signaling receptor binding|
|regulation of metal ion transport|
|supramolecular fiber organization|
|regulation of ion transmembrane transport|
|neutrophil degranulation|
|regulation of cell morphogenesis|
|neutrophil activation involved in immune response|
|actin cytoskeleton organization|
|neutrophil mediated immunity|
|positive regulation of cell migration|
|neutrophil activation|
|granulocyte activation|
|leukocyte degranulation|
|myeloid leukocyte mediated immunity|
|positive regulation of cell motility|
|myeloid cell activation involved in immune response|
|positive regulation of cellular component movement|
|regulation of cytoskeleton organization|
|cellular response to organic cyclic compound|
|positive regulation of locomotion|
|regulation of transmembrane transport|
|actin filament-based process|
|myeloid leukocyte activation|
|cellular response to organonitrogen compound|
|leukocyte activation involved in immune response|
|cell activation involved in immune response|
|cellular response to nitrogen compound|
|regulation of ion transport|
|regulated exocytosis|
|protein localization to organelle|
|leukocyte mediated immunity|
|exocytosis|
|cellular protein-containing complex assembly|
|regulation of cell migration|
|regulation of cell motility|
|regulation of cellular localization|
|response to organic cyclic compound|
|leukocyte activation|
|sensory perception|
|regulation of locomotion|
|regulation of cellular component movement|
|response to organonitrogen compound|
|secretion by cell|
|export from cell|
|regulation of anatomical structure morphogenesis|
|cell activation|
|response to nitrogen compound|
|immune effector process|
|cytoskeleton organization|
|secretion|
|cellular response to endogenous stimulus|
|regulation of organelle organization|
|nervous system process|
|RNA binding|
|response to endogenous stimulus|
|protein-containing complex assembly|
|cellular protein localization|
|cellular macromolecule localization|
|protein-containing complex subunit organization|
|regulation of transport|
|immune response|
|vesicle-mediated transport|
|system process|
</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:exp282|Fluvastatin 2.2μM R06 exp282]]|-1.89|
|[[:results:exp217|Mdivi-1 15μM R05 exp217]]|1.83|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|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: 1/739
^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>**: 3191
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 8.74 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DIAPH1 Expression in NALM6 Cells: 8.74'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>