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Ask your administrator if you think this is wrong. ======= EHD3 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: EHD3 * **<color #00a2e8>Official Name</color>**: EH domain containing 3 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=30845|30845]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NZN3|Q9NZN3]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EHD3&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EHD3|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605891|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 (PubMed:25686250). In vitro causes tubulation of endocytic membranes (PubMed:24019528). Binding to phosphatidic acid induces its membrane tubulation activity (By similarity). Plays a role in endocytic transport. Involved in early endosome to recycling endosome compartment (ERC), retrograde early endosome to Golgi, and endosome to plasma membrane (rapid recycling) protein transport. Involved in the regulation of Golgi maintenance and morphology (PubMed:16251358, PubMed:17233914, PubMed:19139087, PubMed:23781025). Involved in the recycling of internalized D1 dopamine receptor (PubMed:21791287). Plays a role in cardiac protein trafficking probably implicating ANK2 (PubMed:20489164). Involved in the ventricular membrane targeting of SLC8A1 and CACNA1C and probably the atrial membrane localization of CACNA1GG and CACNA1H implicated in the regulation of atrial myocyte excitability and cardiac conduction (By similarity). In conjunction with EHD4 may be involved in endocytic trafficking of KDR/VEGFR2 implicated in control of glomerular function (By similarity). Involved in the rapid recycling of integrin beta-3 implicated in cell adhesion maintenance (PubMed:23781025). 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, an early step in cilium biogenesis; possibly sharing redundant functions with EHD1 (PubMed:25686250). {ECO:0000250|UniProtKB:Q9QXY6, ECO:0000269|PubMed:16251358, ECO:0000269|PubMed:17233914, ECO:0000269|PubMed:19139087, ECO:0000269|PubMed:21791287, ECO:0000269|PubMed:23781025, ECO:0000269|PubMed:24019528, ECO:0000269|PubMed:25686250, ECO:0000305|PubMed:20489164}. <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'> |efhand 3| |Dynamin N| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |ciliary pocket membrane| |regulation of cardiac muscle cell membrane potential| |Golgi to lysosome transport| |early endosome to Golgi transport| |receptor recycling| |positive regulation of voltage-gated calcium channel activity| |Golgi to vacuole transport| |regulation of Golgi organization| |regulation of voltage-gated calcium channel activity| |endocytic recycling| |positive regulation of calcium ion transmembrane transporter activity| |endocytic vesicle| |regulation of cardiac conduction| |positive regulation of cation channel activity| |positive regulation of calcium ion transmembrane transport| |regulation of cardiac muscle contraction| |recycling endosome membrane| |regulation of calcium ion transmembrane transporter activity| |regulation of striated muscle contraction| |retrograde transport, endosome to Golgi| |post-Golgi vesicle-mediated transport| |positive regulation of ion transmembrane transporter activity| |receptor metabolic process| |lysosomal transport| |positive regulation of transporter activity| |positive regulation of calcium ion transport| |positive regulation of cation transmembrane transport| |vacuolar transport| |cytosolic transport| |regulation of calcium ion transmembrane transport| |positive regulation of ion transmembrane transport| |regulation of muscle contraction| |regulation of cation channel activity| |protein localization to plasma membrane| |nucleic acid binding| |positive regulation of transmembrane transport| |endosome membrane| |protein localization to cell periphery| |endosomal transport| |regulation of muscle system process| |regulation of heart contraction| |regulation of calcium ion transport| |regulation of ion transmembrane transporter activity| |regulation of transmembrane transporter activity| |positive regulation of ion transport| |regulation of transporter activity| |regulation of blood circulation| |blood coagulation| |coagulation| |hemostasis| |regulation of cation transmembrane transport| |protein homooligomerization| |cilium assembly| |cilium organization| |Golgi vesicle transport| |regulation of metal ion transport| |GTP binding| |focal adhesion| |regulation of membrane potential| |plasma membrane bounded cell projection assembly| |cell projection assembly| |regulation of ion transmembrane transport| |wound healing| |protein localization to membrane| |regulation of body fluid levels| |protein complex oligomerization| |regulation of transmembrane transport| |response to wounding| |regulation of system process| |perinuclear region of cytoplasm| |regulation of ion transport| |calcium ion binding| |organelle assembly| |positive regulation of transport| |plasma membrane bounded cell projection organization| |cell projection organization| |regulation of organelle organization| |ATP binding| |protein transport| |intracellular transport| |peptide transport| |protein-containing complex assembly| |amide transport| |cellular protein localization| |cellular macromolecule localization| |establishment of protein localization| |positive regulation of molecular function| |establishment of localization in cell| |nitrogen compound transport| |protein-containing complex subunit organization| |regulation of transport| |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:exp34|Rotenone 20μM R00 exp34]]|-2.04| </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>**: 4376 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.33 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='EHD3 Expression in NALM6 Cells: -0.33'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1