| Gene Symbol |
OPA1
|
| Entrez Gene |
4976
|
| Alt Symbol |
MGM1, NPG, NTG, largeG
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
optic atrophy 1 (autosomal dominant)
|
| Other Description |
dynamin-like 120 kDa protein, mitochondrial|dynamin-like guanosine triphosphatase|mitochondrial dynamin-like GTPase|optic atrophy protein 1
|
| Swissprots |
O60313 D3DNW4
|
| Accessions |
ADP90054 ADP90055 ADP90056 ADP90057 ADP90058 ADP90059 ADP90060 ADP90061 ADP90062 ADP90063 ADP90064 ADP90065 ADP90066 ADP90067 ADP90068 ADP90069 ADP90070 ADP90071 ADP90072 ADP90073 ADP90074 ADP90075 ADP90076 ADP90077 ADP90082 ADP90083 ADP90084 ADP90085 ADP90086 ADP90087 ADP90088 ADP90089 ADP90090 ADP90091 ADP90092 ADP90093 ADP90094 ADP90095 ADP90096 ADP90097 ADP90098 ADP90099 ADP90100 ADP90101 ADP90102 ADP90103 ADP90104 ADP90105 ADP90106 ADP90107 ADP90108 ADP90109 ADP90110 ADP90111 ADP90112 ADP90113 ADP90114 ADP90115 ADP90116 ADP90117 ADP90118 ADP90119 ADP90120 ADP90121 ADP90122 ADP90123 ADP90124 ADP90125 ADP90130 ADP90131 ADP90132 ADP90133 ADP90138 ADP90139 ADP90140 ADP90141 ADP90142 ADP90143 ADP90144 ADP90145 ADP90146 ADP90147 ADP90148 ADP90149 ADP90150 ADP90151 ADP90152 ADP90153 ADP90154 ADP90155 ADP90156 ADP90157 ADP90162 ADP90163 ADP90164 ADP90165 ADP90166 ADP90167 ADP90168 ADP90169 ADP90170 ADP90171 ADP90172 ADP90173 ADP90174 ADP90175 ADP90176 ADP90177 ADP90178 ADP90179 ADP90180 ADP90181 ADP90182 ADP90183 ADP90184 ADP90185 ADP90186 ADP90187 ADP90188 ADP90189 ADP90190 ADP90191 ADP90192 ADP90193 ADP90194 ADP90195 ADP90196 ADP90197 ADP90198 ADP90199 ADP90200 ADP90201 ADP90202 ADP90203 ADP90204 ADP90205 ADP90206 ADP90207 ADP90208 ADP90209 ADP90210 ADP90211 ADP90212 ADP90213 ADP90214 ADP90215 ADP90216 ADP90217 ADP90218 ADP90219 ADP90220 ADP90221 ADP90222 ADP90223 ADP90224 ADP90225 ADP90226 ADP90227 ADP90228 ADP90229 ADP90234 ADP90235 ADP90236 ADP90237 ADP90238 ADP90239 ADP90240 ADP90241 ADP90242 ADP90243 ADP90244 ADP90245 ADP90246 ADP90247 ADP90248 ADP90249 ADP90250 ADP90251 ADP90252 ADP90253 ADP90258 ADP90259 ADP90260 ADP90261 ADP90262 ADP90263 ADP90264 ADP90265 ADP90266 ADP90267 ADP90268 ADP90269 ADP90270 ADP90271 ADP90272 ADP90273 ADP90274 ADP90275 ADP90276 ADP90277 ADP90278 ADP90279 ADP90280 ADP90281 ADP90282 ADP90283 ADP90284 ADP90285 ADP90286 ADP90287 ADP90288 ADP90289 ADP90290 ADP90291 ADP90292 ADP90293 ADP90294 ADP90295 ADP90296 ADP90297 ADP90298 ADP90299 ADP90300 ADP90301 ADP90306 ADP90307 ADP90308 ADP90309 ADP90310 ADP90311 ADP90312 ADP90313 ADP90314 ADP90315 ADP90316 ADP90317 ADP90318 ADP90319 ADP90320 ADP90321 ADP90322 ADP90323 ADP90324 ADP90325 ADP90326 ADP90327 ADP90328 ADP90329 ADP90330 ADP90331 ADP90332 ADP90333 ADP90334 ADP90335 ADP90336 ADP90337 ADP90338 ADP90339 ADP90340 ADP90341 ADP90342 ADP90343 ADP90344 ADP90345 ADP90346 ADP90347 ADP90348 ADP90349 ADP90350 ADP90351 ADP90352 ADP90353 ADP90354 ADP90355 ADP90356 ADP90357 ADP90358 ADP90359 ADP90360 ADP90361 ADP90362 ADP90363 ADP90364 ADP90365 ADP90366 ADP90367 ADP90368 ADP90369 ADP90370 ADP90371 ADP90372 ADP90373 CAS91638 CAS91640 CAS91641 CAS91642 EAW78064 EAW78065 EAW78066 EAW78067 EAW78068 EAW78069 EAW78070 EAW78071 EAW78072 O60313 AB011139 BAA25493 AK022107 AK022522 BC035393 BC043443 BC058013 AAH58013 BC075805 AAH75805 BQ774938 CN314824 DA993450 XM_011512863 XP_011511165 XM_011512864 XP_011511166 XM_011512865 XP_011511167 XM_011512866 XP_011511168 XM_011512867 XP_011511169 XM_011512868 XP_011511170 XM_011512869 XP_011511171 NM_015560 NP_056375 NM_130831 NP_570844 NM_130832 NP_570845 NM_130833 NP_570846 NM_130834 NP_570847 NM_130835 NP_570848 NM_130836 NP_570849 NM_130837 NP_570850
|
| Function |
Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusion barrier for proteins stored in mitochondrial cristae. 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. May also play a role in mitochondrial genome maintenance. {ECO:0000250|UniProtKB:P58281, ECO:0000269|PubMed:16778770, ECO:0000269|PubMed:18158317}.
|
| Subcellular Location |
Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion intermembrane space.
|
| Tissue Specificity |
Highly expressed in retina. Also expressed in brain, testis, heart and skeletal muscle. Isoform 1 expressed in retina, skeletal muscle, heart, lung, ovary, colon, thyroid gland, leukocytes and fetal brain. Isoform 2 expressed in colon, liver, kidney, thyroid gland and leukocytes. Low levels of all isoforms expressed in a variety of tissues. {ECO:0000269|PubMed:11017079, ECO:0000269|PubMed:11017080, ECO:0000269|PubMed:11810270}.
|