| Tag | Content |
|---|---|
| Uniprot ID | O60313; D3DNW4; E5KLJ5; E5KLJ6; E5KLJ7; E5KLK1; E5KLK2; |
| Entrez ID | 4976 |
| Genbank protein ID | ADP90247.1; ADP90113.1; ADP90359.1; ADP90054.1; EAW78066.1; ADP90069.1; ADP90109.1; ADP90288.1; ADP90316.1; ADP90103.1; ADP90333.1; ADP90240.1; ADP90111.1; ADP90096.1; ADP90329.1; ADP90368.1; ADP90272.1; ADP90320.1; ADP90140.1; ADP90188.1; ADP90289.1; ADP90121.1; ADP90262.1; ADP90241.1; ADP90311.1; ADP90268.1; ADP90068.1; EAW78065.1; ADP90209.1; ADP90273.1; ADP90220.1; ADP90265.1; ADP90084.1; ADP90236.1; ADP90344.1; ADP90092.1; ADP90200.1; ADP90110.1; ADP90308.1; ADP90297.1; ADP90141.1; ADP90118.1; ADP90293.1; ADP90063.1; ADP90309.1; ADP90249.1; ADP90201.1; ADP90294.1; ADP90286.1; ADP90356.1; ADP90062.1; ADP90228.1; ADP90352.1; ADP90190.1; ADP90180.1; ADP90117.1; ADP90120.1; ADP90183.1; ADP90244.1; ADP90360.1; ADP90337.1; ADP90280.1; ADP90169.1; ADP90184.1; ADP90351.1; ADP90088.1; ADP90224.1; ADP90143.1; ADP90150.1; ADP90166.1; ADP90295.1; ADP90116.1; ADP90332.1; ADP90350.1; ADP90285.1; ADP90132.1; ADP90252.1; ADP90349.1; ADP90287.1; ADP90341.1; ADP90125.1; ADP90284.1; BAA25493.1; ADP90225.1; ADP90216.1; ADP90328.1; ADP90300.1; ADP90325.1; ADP90345.1; ADP90105.1; ADP90353.1; ADP90173.1; ADP90263.1; ADP90334.1; ADP90343.1; ADP90174.1; ADP90238.1; ADP90245.1; ADP90321.1; ADP90277.1; ADP90364.1; ADP90168.1; ADP90269.1; ADP90223.1; ADP90310.1; ADP90281.1; ADP90065.1; ADP90148.1; ADP90366.1; ADP90124.1; ADP90212.1; ADP90172.1; ADP90175.1; ADP90340.1; ADP90205.1; ADP90165.1; ADP90087.1; ADP90260.1; ADP90292.1; ADP90213.1; ADP90199.1; ADP90064.1; ADP90055.1; ADP90072.1; ADP90189.1; ADP90372.1; ADP90077.1; ADP90327.1; ADP90142.1; ADP90278.1; ADP90336.1; ADP90317.1; ADP90261.1; ADP90153.1; ADP90185.1; ADP90181.1; ADP90357.1; ADP90102.1; ADP90112.1; ADP90145.1; ADP90076.1; ADP90164.1; ADP90193.1; ADP90207.1; ADP90095.1; ADP90191.1; ADP90222.1; ADP90276.1; ADP90324.1; ADP90373.1; ADP90061.1; ADP90214.1; ADP90326.1; ADP90177.1; ADP90358.1; ADP90253.1; ADP90342.1; ADP90239.1; ADP90071.1; ADP90365.1; ADP90192.1; ADP90119.1; ADP90217.1; ADP90229.1; ADP90100.1; ADP90152.1; ADP90301.1; ADP90264.1; ADP90204.1; ADP90156.1; ADP90093.1; ADP90086.1; ADP90089.1; ADP90101.1; ADP90369.1; ADP90348.1; EAW78067.1; ADP90270.1; ADP90215.1; EAW78070.1; ADP90149.1; ADP90279.1; ADP90097.1; ADP90248.1; ADP90073.1; ADP90197.1; EAW78064.1; ADP90237.1; ADP90367.1; ADP90296.1; ADP90246.1; ADP90133.1; ADP90206.1; ADP90335.1; ADP90361.1; ADP90319.1; ADP90108.1; ADP90157.1; ADP90094.1; ADP90208.1; ADP90057.1; ADP90312.1; AAH75805.1; ADP90151.1; ADP90144.1; ADP90070.1; ADP90196.1; ADP90060.1; EAW78071.1; ADP90198.1; ADP90271.1; ADP90104.1; ADP90176.1; EAW78069.1; ADP90056.1; ADP90085.1; ADP90182.1; ADP90313.1; ADP90318.1; ADP90221.1; ADP90167.1; |
| Genbank nucleotide ID | NM_130831.2; NM_015560.2; NM_130833.2; NM_130834.2; NM_130836.2; NM_130837.2; |
| Ensembl protein ID | ENSP00000376232; ENSP00000354681; ENSP00000355324; ENSP00000354781; ENSP00000494512; ENSP00000354429; |
| Ensembl nucleotide ID | ENSG00000198836 |
| Gene name | Dynamin-like 120 kDa protein, mitochondrial |
| Gene symbol | OPA1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | 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, PubMed:28746876). 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). |
| Sequence | MWRLRRAAVA CEVCQSLVKH SSGIKGSLPL QKLHLVSRSI YHSHHPTLKL QRPQLRTSFQ 60 QFSSLTNLPL RKLKFSPIKY GYQPRRNFWP ARLATRLLKL RYLILGSAVG GGYTAKKTFD 120 QWKDMIPDLS EYKWIVPDIV WEIDEYIDFE KIRKALPSSE DLVKLAPDFD KIVESLSLLK 180 DFFTSGSPEE TAFRATDRGS ESDKHFRKVS DKEKIDQLQE ELLHTQLKYQ RILERLEKEN 240 KELRKLVLQK DDKGIHHRKL KKSLIDMYSE VLDVLSDYDA SYNTQDHLPR VVVVGDQSAG 300 KTSVLEMIAQ ARIFPRGSGE MMTRSPVKVT LSEGPHHVAL FKDSSREFDL TKEEDLAALR 360 HEIELRMRKN VKEGCTVSPE TISLNVKGPG LQRMVLVDLP GVINTVTSGM APDTKETIFS 420 ISKAYMQNPN AIILCIQDGS VDAERSIVTD LVSQMDPHGR RTIFVLTKVD LAEKNVASPS 480 RIQQIIEGKL FPMKALGYFA VVTGKGNSSE SIEAIREYEE EFFQNSKLLK TSMLKAHQVT 540 TRNLSLAVSD CFWKMVRESV EQQADSFKAT RFNLETEWKN NYPRLRELDR NELFEKAKNE 600 ILDEVISLSQ VTPKHWEEIL QQSLWERVST HVIENIYLPA AQTMNSGTFN TTVDIKLKQW 660 TDKQLPNKAV EVAWETLQEE FSRFMTEPKG KEHDDIFDKL KEAVKEESIK RHKWNDFAED 720 SLRVIQHNAL EDRSISDKQQ WDAAIYFMEE ALQARLKDTE NAIENMVGPD WKKRWLYWKN 780 RTQEQCVHNE TKNELEKMLK CNEEHPAYLA SDEITTVRKN LESRGVEVDP SLIKDTWHQV 840 YRRHFLKTAL NHCNLCRRGF YYYQRHFVDS ELECNDVVLF WRIQRMLAIT ANTLRQQLTN 900 TEVRRLEKNV KEVLEDFAED GEKKIKLLTG KRVQLAEDLK KVREIQEKLD AFIEALHQEK 960 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.