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Ask your administrator if you think this is wrong. ======= OPA1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: OPA1 * **<color #00a2e8>Official Name</color>**: OPA1 mitochondrial dynamin like GTPase * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4976|4976]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O60313|O60313]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=OPA1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20OPA1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605290|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]. * **<color #00a2e8>UniProt Summary</color>**: Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission (PubMed:16778770, PubMed:17709429, PubMed:20185555, PubMed:24616225). Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion (PubMed:17709429). Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation (PubMed:20185555). The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes (PubMed:20185555). Plays a role in remodeling cristae and the release of cytochrome c during apoptosis (By similarity). Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space (By similarity). Plays a role in mitochondrial genome maintenance (PubMed:20974897, PubMed:18158317). {ECO:0000250|UniProtKB:P58281, ECO:0000269|PubMed:16778770, ECO:0000269|PubMed:17709429, ECO:0000269|PubMed:18158317, ECO:0000269|PubMed:20185555, ECO:0000269|PubMed:20974897, ECO:0000269|PubMed:24616225}. Isoforms that contain the alternative exon 4b (present in isoform 4 and isoform 5) are required for mitochondrial genome maintenance, possibly by anchoring the mitochondrial nucleoids to the inner mitochondrial membrane. {ECO:0000269|PubMed:20974897}. <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| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |response to curcumin| |positive regulation of mitochondrial fusion| |membrane tubulation| |positive regulation of neuron maturation| |cellular response to L-glutamate| |dynamin family protein polymerization involved in mitochondrial fission| |dynamin family protein polymerization involved in membrane fission| |mitochondrial crista| |regulation of mitochondrial fusion| |positive regulation of cell maturation| |intracellular distribution of mitochondria| |regulation of neuron maturation| |calcium import into the mitochondrion| |cardiolipin binding| |response to L-glutamate| |membrane fission| |axonal transport of mitochondrion| |response to ether| |extrinsic component of mitochondrial inner membrane| |mitochondrion distribution| |mitochondrial fusion| |mitochondrial fission| |phosphatidic acid binding| |mitochondrial genome maintenance| |negative regulation of release of cytochrome c from mitochondria| |negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway| |positive regulation of dendritic spine morphogenesis| |mitochondrion transport along microtubule| |mitochondrion morphogenesis| |establishment of mitochondrion localization, microtubule-mediated| |positive regulation of insulin receptor signaling pathway| |regulation of cell maturation| |response to muscle activity| |mitochondrial calcium ion transmembrane transport| |positive regulation of cellular response to insulin stimulus| |establishment of mitochondrion localization| |GTP metabolic process| |regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway| |cellular senescence| |positive regulation of dendrite morphogenesis| |guanosine-containing compound metabolic process| |regulation of dendritic spine morphogenesis| |calcium ion import| |positive regulation of dendritic spine development| |response to electrical stimulus| |inner mitochondrial membrane organization| |negative regulation of response to endoplasmic reticulum stress| |mitochondrion localization| |regulation of release of cytochrome c from mitochondria| |cochlea development| |negative regulation of mitochondrion organization| |axonal transport| |axon cytoplasm| |purine ribonucleoside triphosphate metabolic process| |purine ribonucleoside metabolic process| |regulation of insulin receptor signaling pathway| |cell aging| |purine nucleoside metabolic process| |response to activity| |axo-dendritic transport| |ribonucleoside triphosphate metabolic process| |cellular response to nutrient| |purine nucleoside triphosphate metabolic process| |cellular response to amino acid stimulus| |cellular response to glucose stimulus| |cellular response to hexose stimulus| |regulation of cellular response to insulin stimulus| |cellular response to monosaccharide stimulus| |regulation of dendritic spine development| |positive regulation of dendrite development| |ribonucleoside metabolic process| |mitochondrial intermembrane space| |organelle transport along microtubule| |cellular response to carbohydrate stimulus| |regulation of response to endoplasmic reticulum stress| |protein polymerization| |cellular glucose homeostasis| |cytosolic calcium ion transport| |regulation of dendrite morphogenesis| |mitochondrial transmembrane transport| |nucleoside triphosphate metabolic process| |kinase binding| |response to antineoplastic agent| |negative regulation of intrinsic apoptotic signaling pathway| |regulation of postsynapse organization| |organelle fusion| |mitochondrial membrane| |nucleoside metabolic process| |response to amino acid| |positive regulation of mitochondrion organization| |mitochondrial membrane organization| |membrane fusion| |glycosyl compound metabolic process| |response to glucose| |retina development in camera-type eye| |response to hexose| |response to monosaccharide| |regulation of dendrite development| |positive regulation of cell morphogenesis involved in differentiation| |transport along microtubule| |regulation of intrinsic apoptotic signaling pathway| |mitochondrial outer membrane| |response to carbohydrate| |cytoskeleton-dependent intracellular transport| |regulation of mitochondrion organization| |microtubule-based transport| |glucose homeostasis| |carbohydrate homeostasis| |cellular response to hypoxia| |inner ear development| |response to ketone| |cellular response to decreased oxygen levels| |calcium ion transmembrane transport| |cellular response to acid chemical| |mitochondrial transport| |magnesium ion binding| |cellular response to oxygen levels| |response to nutrient| |regulation of synapse organization| |ear development| |visual perception| |sensory perception of light stimulus| |negative regulation of apoptotic signaling pathway| |regulation of synapse structure or activity| |cellular response to nutrient levels| |microtubule binding| |calcium ion transport| |cellular response to extracellular stimulus| |microtubule-based movement| |aging| |positive regulation of neuron projection development| |divalent metal ion transport| |divalent inorganic cation transport| |regulation of cell morphogenesis involved in differentiation| |response to antibiotic| |organelle fission| |purine ribonucleotide metabolic process| |camera-type eye development| |ribonucleotide metabolic process| |GTPase activity| |purine nucleotide metabolic process| |cellular response to external stimulus| |ribose phosphate metabolic process| |response to hypoxia| |response to acid chemical| |response to decreased oxygen levels| |eye development| |visual system development| |establishment of organelle localization| |purine-containing compound metabolic process| |sensory system development| |positive regulation of neuron differentiation| |negative regulation of organelle organization| |response to oxygen levels| |positive regulation of cell projection organization| |GTP binding| |mitochondrial inner membrane| |regulation of apoptotic signaling pathway| |cellular response to drug| |dendrite| |mitochondrion organization| |nucleotide metabolic process| |nucleoside phosphate metabolic process| |positive regulation of neurogenesis| |regulation of cell morphogenesis| |regulation of neuron projection development| |response to nutrient levels| |negative regulation of intracellular signal transduction| |cell part morphogenesis| |protein complex oligomerization| |response to extracellular stimulus| |positive regulation of nervous system development| |nucleobase-containing small molecule metabolic process| |positive regulation of cell development| |sensory organ development| |inorganic cation transmembrane transport| |organelle localization| |cellular response to organonitrogen compound| |cation transmembrane transport| |positive regulation of organelle organization| |metal ion transport| |inorganic ion transmembrane transport| |regulation of neuron differentiation| |cellular response to nitrogen compound| |microtubule-based process| |regulation of plasma membrane bounded cell projection organization| |negative regulation of cellular component organization| |regulation of cell projection organization| |regulation of cellular response to stress| |cellular chemical homeostasis| |regulation of neurogenesis| |cellular component morphogenesis| |cation transport| |cellular protein-containing complex assembly| |membrane organization| |organophosphate metabolic process| |negative regulation of apoptotic process| |cellular homeostasis| |negative regulation of programmed cell death| |response to organic cyclic compound| |apoptotic process| |regulation of nervous system development| |regulation of cell development| |ion transmembrane transport| |positive regulation of cell differentiation| |sensory perception| |negative regulation of cell death| |response to organonitrogen compound| |response to drug| |carbohydrate derivative metabolic process| |programmed cell death| |cellular response to oxygen-containing compound| |regulation of anatomical structure morphogenesis| |response to nitrogen compound| |cell death| |chemical homeostasis| |response to abiotic stimulus| |positive regulation of cellular component organization| |cellular response to endogenous stimulus| |mitochondrion| |negative regulation of signal transduction| |transmembrane transport| |regulation of organelle organization| |negative regulation of cell communication| |negative regulation of signaling| |positive regulation of developmental process| |ion transport| |nervous system process| |response to endogenous stimulus| |regulation of response to stress| |intracellular transport| |generation of neurons| |regulation of apoptotic process| |movement of cell or subcellular component| |response to oxygen-containing compound| |protein-containing complex assembly| |regulation of programmed cell death| |negative regulation of response to stimulus| |neurogenesis| |homeostatic process| |positive regulation of signal transduction| |regulation of cell death| |cellular response to stress| |positive regulation of multicellular organismal process| |small molecule metabolic process| |regulation of cell differentiation| |positive regulation of cell communication| |positive regulation of signaling| |regulation of intracellular signal transduction| |establishment of localization in cell| |protein-containing complex subunit organization| |system process| |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:exp455|Benzoate 10000μM R08 exp455]]|-2.57| |[[:results:exp199|Etoposide 0.3μM R05 exp199]]|1.79| |[[:results:exp19|Etoposide 1μM R00 exp19]]|1.79| |[[:results:exp507|Monensin 0.3μM R08 exp507]]|1.79| |[[:results:exp84|UM0125461 0.74μM R02 exp84]]|1.84| |[[:results:exp531|THZ1 0.06μM R08 exp531]]|1.85| |[[:results:exp108|Vinblastine 0.2μM R03 exp108]]|1.85| |[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|1.86| |[[:results:exp256|HMS-I1 10μM R06 exp256]]|1.89| |[[:results:exp435|JQ1 0.8μM R08 exp435]]|1.9| |[[:results:exp82|Torin1 0.08μM R02 exp82]]|1.91| |[[:results:exp264|Arsenate 40μM R06 exp264]]|1.92| |[[:results:exp360|Genistein 15μM R07 exp360]]|1.94| |[[:results:exp478|Doxorubicin 0.02μM R08 exp478]]|1.95| |[[:results:exp448|Ammonium tetrathiomolybdate 10μM R08 exp448]]|1.96| |[[:results:exp354|Diepoxybutane 3μM R07 exp354]]|1.97| |[[:results:exp456|Benzoate 20000μM R08 exp456]]|1.98| |[[:results:exp34|Rotenone 20μM R00 exp34]]|2| |[[:results:exp95|BI-2536 0.0042μM R03 exp95]]|2.01| |[[:results:exp66|BI-D1870 3.15μM R02 exp66]]|2.1| |[[:results:exp357|Dorsomorphin 5μM R07 exp357]]|2.13| |[[:results:exp459|Bleomycin 5μM R08 exp459]]|2.16| |[[:results:exp329|Hydroxyurea 100μM R07 exp329]]|2.17| |[[:results:exp512|Olaparib 4μM R08 exp512]]|2.17| |[[:results:exp3|Actinomycin-D 0.001μM R00 exp3]]|2.2| |[[:results:exp503|Mitomycin-C 0.06μM R08 exp503]]|2.21| |[[:results:exp106|UM131593 0.2μM R03 exp106]]|2.38| |[[:results:exp28|Pimelic-diphenylamide-106 5μM R00 exp28]]|2.48| |[[:results:exp539|42°C R08 exp539]]|2.52| |[[:results:exp59|UMK57 1μM R01 exp59]]|2.52| |[[:results:exp80|RO-3307 4.7μM R02 exp80]]|2.56| |[[:results:exp524|Staurosporine 0.02μM R08 exp524]]|2.71| |[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|2.83| |[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|2.92| |[[:results:exp515|PU-H71 1μM R08 exp515]]|2.94| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:c:crls1|CRLS1]]|0.657| |[[:human genes:t:taz|TAZ]]|0.653| |[[:human genes:r:romo1|ROMO1]]|0.621| |[[:human genes:t:triap1|TRIAP1]]|0.585| |[[:human genes:p:pmm2|PMM2]]|0.556| |[[:human genes:d:dnlz|DNLZ]]|0.548| |[[:human genes:t:tamm41|TAMM41]]|0.545| |[[:human genes:d:dohh|DOHH]]|0.542| |[[:human genes:a:atp5a1|ATP5A1]]|0.532| |[[:human genes:a:atp5d|ATP5D]]|0.531| |[[:human genes:h:hccs|HCCS]]|0.513| |[[:human genes:p:ppa2|PPA2]]|0.511| |[[:human genes:c:cycs|CYCS]]|0.51| |[[:human genes:s:slc25a26|SLC25A26]]|0.508| |[[:human genes:m:mrpl21|MRPL21]]|0.506| |[[:human genes:m:mrpl23|MRPL23]]|0.504| |[[:human genes:u:ube2g2|UBE2G2]]|0.503| |[[:human genes:t:timm13|TIMM13]]|0.497| |[[:human genes:d:dap3|DAP3]]|0.495| |[[:human genes:p:plaa|PLAA]]|0.49| |[[:human genes:c:coq3|COQ3]]|0.488| |[[:human genes:c:casp9|CASP9]]|0.485| |[[:human genes:v:vars2|VARS2]]|0.484| |[[:human genes:c:cbfb|CBFB]]|0.484| |[[:human genes:h:hsd17b10|HSD17B10]]|0.481| |[[:human genes:m:mrpl53|MRPL53]]|0.48| |[[:human genes:m:mrps34|MRPS34]]|0.477| |[[:human genes:a:apaf1|APAF1]]|0.473| |[[:human genes:a:atp5j|ATP5J]]|0.473| |[[:human genes:s:supv3l1|SUPV3L1]]|0.472| |[[:human genes:b:bak1|BAK1]]|0.472| |[[:human genes:p:pars2|PARS2]]|0.472| |[[:human genes:r:rpusd4|RPUSD4]]|0.471| |[[:human genes:a:alg5|ALG5]]|0.47| |[[:human genes:a:atp5b|ATP5B]]|0.47| |[[:human genes:t:trmt10a|TRMT10A]]|0.469| |[[:human genes:n:nsd1|NSD1]]|0.469| |[[:human genes:b:brwd1|BRWD1]]|0.468| |[[:human genes:a:atp5o|ATP5O]]|0.467| |[[:human genes:k:kiaa0391|KIAA0391]]|0.467| |[[:human genes:b:bap1|BAP1]]|0.467| |[[:human genes:y:yars2|YARS2]]|0.466| |[[:human genes:a:atp5l|ATP5L]]|0.466| |[[:human genes:a:atp5c1|ATP5C1]]|0.464| |[[:human genes:m:mrps16|MRPS16]]|0.461| |[[:human genes:m:mrps6|MRPS6]]|0.458| |[[:human genes:r:rpe|RPE]]|0.455| |[[:human genes:h:hars2|HARS2]]|0.454| |[[:human genes:m:mrps14|MRPS14]]|0.454| |[[:human genes:c:coq6|COQ6]]|0.453| |[[:human genes:f:fastkd5|FASTKD5]]|0.453| |[[:human genes:t:tmem242|TMEM242]]|0.452| |[[:human genes:s:serf2|SERF2]]|0.451| |[[:human genes:m:mrps18a|MRPS18A]]|0.45| |[[:human genes:s:srp14|SRP14]]|0.45| |[[:human genes:a:atp5i|ATP5I]]|0.449| |[[:human genes:m:mfn1|MFN1]]|0.449| |[[:human genes:m:mrps33|MRPS33]]|0.443| |[[:human genes:w:wbscr16|WBSCR16]]|0.442| |[[:human genes:u:ube2j1|UBE2J1]]|0.442| |[[:human genes:t:tars2|TARS2]]|0.44| |[[:human genes:e:ears2|EARS2]]|0.44| |[[:human genes:i:irf2bp2|IRF2BP2]]|0.439| |[[:human genes:h:hars|HARS]]|0.439| |[[:human genes:m:mrps21|MRPS21]]|0.439| |[[:human genes:t:timm8b|TIMM8B]]|0.438| |[[:human genes:p:pnpt1|PNPT1]]|0.438| |[[:human genes:c:cox16|COX16]]|0.437| |[[:human genes:u:uap1|UAP1]]|0.437| |[[:human genes:g:gfm2|GFM2]]|0.433| |[[:human genes:m:mrps5|MRPS5]]|0.433| |[[:human genes:t:tefm|TEFM]]|0.433| |[[:human genes:f:ftsj2|FTSJ2]]|0.432| |[[:human genes:f:faf2|FAF2]]|0.43| |[[:human genes:p:pgm3|PGM3]]|0.43| |[[:human genes:d:dars2|DARS2]]|0.429| |[[:human genes:m:mrp63|MRP63]]|0.428| |[[:human genes:n:nars2|NARS2]]|0.428| |[[:human genes:p:prkrir|PRKRIR]]|0.427| |[[:human genes:s:slmo2|SLMO2]]|0.427| |[[:human genes:d:dpagt1|DPAGT1]]|0.426| |[[:human genes:a:alg6|ALG6]]|0.426| |[[:human genes:g:gtpbp10|GTPBP10]]|0.426| |[[:human genes:i:id3|ID3]]|0.425| |[[:human genes:m:mrpl20|MRPL20]]|0.425| |[[:human genes:q:qrsl1|QRSL1]]|0.424| |[[:human genes:m:mtg2|MTG2]]|0.421| |[[:human genes:l:lamtor4|LAMTOR4]]|0.421| |[[:human genes:b:bcs1l|BCS1L]]|0.421| |[[:human genes:g:gfpt1|GFPT1]]|0.42| |[[:human genes:d:diablo|DIABLO]]|0.42| |[[:human genes:r:rbfa|RBFA]]|0.42| |[[:human genes:d:dnajc3|DNAJC3]]|0.42| |[[:human genes:a:alg2|ALG2]]|0.417| |[[:human genes:r:rptor|RPTOR]]|0.417| |[[:human genes:m:mbtps2|MBTPS2]]|0.417| |[[:human genes:d:dhrsx|DHRSX]]|0.417| |[[:human genes:l:lonp1|LONP1]]|0.416| |[[:human genes:v:vdac2|VDAC2]]|0.414| |[[:human genes:l:lsm10|LSM10]]|0.414| |[[:human genes:p:ppp2r3c|PPP2R3C]]|0.414| |[[:human genes:p:ptpmt1|PTPMT1]]|0.413| |[[:human genes:m:mrpl47|MRPL47]]|0.412| |[[:human genes:s:sco2|SCO2]]|0.412| |[[:human genes:m:manf|MANF]]|0.412| |[[:human genes:p:pet112|PET112]]|0.412| |[[:human genes:m:mrps9|MRPS9]]|0.411| |[[:human genes:n:nxt1|NXT1]]|0.41| |[[:human genes:s:sec63|SEC63]]|0.41| |[[:human genes:t:timm17a|TIMM17A]]|0.409| |[[:human genes:t:trim28|TRIM28]]|0.409| |[[:human genes:t:trub2|TRUB2]]|0.406| |[[:human genes:p:pdss1|PDSS1]]|0.406| |[[:human genes:m:mtg1|MTG1]]|0.406| |[[:human genes:t:thoc6|THOC6]]|0.405| |[[:human genes:t:thg1l|THG1L]]|0.405| |[[:human genes:a:alg1|ALG1]]|0.404| |[[:human genes:a:atp2a2|ATP2A2]]|0.404| |[[:human genes:t:tufm|TUFM]]|0.404| |[[:human genes:m:march5|MARCH5]]|0.403| |[[:human genes:t:trmt61a|TRMT61A]]|0.4| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 6/739 ^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|1/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|1/75| |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|1/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|1/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 684 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.27 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='OPA1 Expression in NALM6 Cells: 7.27'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1