======= EHD1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EHD1
  * **<color #00a2e8>Official Name</color>**: EH domain containing 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10938|10938]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9H4M9|Q9H4M9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EHD1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EHD1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605888|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**: N/A
  * **<color #00a2e8>UniProt Summary</color>**:  ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes vesiculation of endocytic membranes (PubMed:24019528). Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle (CV), an early step in cilium biogenesis. Proposed to be required for the fusion of distal appendage vesicles (DAVs) to form the CV by recruiting SNARE complex component SNAP29. Is required for recruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67 and B9D2, and of IFT20 following DAV reorganization before Rab8- dependent ciliary membrane extension. Required for the loss of CCP110 form the mother centriole essential for the maturation of the basal body during ciliogenesis (PubMed:25686250). {ECO:0000250|UniProtKB:Q641Z6, ECO:0000250|UniProtKB:Q9WVK4, ECO:0000269|PubMed:15020713, ECO:0000269|PubMed:17233914, ECO:0000269|PubMed:20801876, ECO:0000269|PubMed:24019528, ECO:0000269|PubMed:25686250}.

<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'>
|Dynamin N|
|efhand 3|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|ciliary pocket membrane|
|positive regulation of endocytic recycling|
|positive regulation of cholesterol storage|
|platelet dense tubular network membrane|
|regulation of endocytic recycling|
|regulation of cholesterol storage|
|positive regulation of myoblast fusion|
|regulation of myoblast fusion|
|positive regulation of lipid storage|
|low-density lipoprotein particle clearance|
|positive regulation of syncytium formation by plasma membrane fusion|
|regulation of syncytium formation by plasma membrane fusion|
|positive regulation of myotube differentiation|
|endocytic recycling|
|plasma lipoprotein particle clearance|
|regulation of lipid storage|
|protein localization to cilium|
|cellular response to nerve growth factor stimulus|
|response to nerve growth factor|
|regulation of myotube differentiation|
|positive regulation of striated muscle cell differentiation|
|regulation of plasma lipoprotein particle levels|
|cholesterol homeostasis|
|sterol homeostasis|
|positive regulation of lipid localization|
|lipid droplet|
|recycling endosome membrane|
|positive regulation of muscle cell differentiation|
|regulation of striated muscle cell differentiation|
|lipid homeostasis|
|regulation of lipid localization|
|Rab GTPase binding|
|early endosome membrane|
|regulation of muscle cell differentiation|
|positive regulation of intracellular transport|
|endosome membrane|
|endosomal transport|
|blood coagulation|
|coagulation|
|hemostasis|
|cadherin binding|
|protein homooligomerization|
|cilium assembly|
|regulation of intracellular transport|
|cilium organization|
|GTP binding|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|wound healing|
|regulation of body fluid levels|
|cellular response to growth factor stimulus|
|protein complex oligomerization|
|response to growth factor|
|regulation of vesicle-mediated transport|
|endocytosis|
|response to wounding|
|neuron projection development|
|import into cell|
|calcium ion binding|
|protein localization to organelle|
|organelle assembly|
|neuron development|
|regulation of cellular localization|
|positive regulation of cell differentiation|
|positive regulation of transport|
|intracellular protein transport|
|neuron differentiation|
|regulation of anatomical structure morphogenesis|
|identical protein binding|
|chemical homeostasis|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|positive regulation of cellular component organization|
|cellular response to endogenous stimulus|
|positive regulation of developmental process|
|response to endogenous stimulus|
|ATP binding|
|protein transport|
|intracellular transport|
|generation of neurons|
|peptide transport|
|protein-containing complex assembly|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|neurogenesis|
|homeostatic process|
|cell development|
|regulation of cell differentiation|
|establishment of localization in cell|
|nitrogen compound transport|
|protein-containing complex subunit organization|
|regulation of transport|
|vesicle-mediated transport|
|membrane|
</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:exp229|Dimethyloxaloylglycine 100μM R05 exp229]]|-1.79|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.574|
</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>**: 7694
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.15 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EHD1 Expression in NALM6 Cells: 5.15'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>