| URN | urn:agi-llid:4976 |
|---|---|
| Total Entities | 0 |
| Connectivity | 390 |
| Name | Opa1 |
| Description | optic atrophy 1 (autosomal dominant) |
| Notes | This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
| GO Molecular Function | GTPase activity |
|---|---|
| hydrolase activity | |
| nucleotide binding | |
| GTP binding | |
| magnesium ion binding |
| GO Cellular Component | membrane |
|---|---|
| integral component of membrane | |
| mitochondrial crista | |
| mitochondrial outer membrane | |
| mitochondrial inner membrane | |
| mitochondrial intermembrane space | |
| mitochondrion | |
| dendrite |
| GO Biological Process | response to stimulus |
|---|---|
| GTP catabolic process | |
| visual perception | |
| neural tube closure | |
| cellular senescence | |
| mitochondrial fusion | |
| inner mitochondrial membrane organization | |
| axon transport of mitochondrion | |
| negative regulation of intrinsic apoptotic signaling pathway | |
| negative regulation of release of cytochrome c from mitochondria | |
| apoptotic process | |
| mitochondrion organization | |
| mitochondrial fission |
| Pathway | Mitochondrial Fusion and Fission |
|---|---|
| Overview of Mitochondrial Dysfunction in Alzheimer's Disease | |
| Mitochondria Enlargement and Apoptosis in Alzheimer's Disease | |
| mitochondria dynamics pathway |
| Group | Mitochondrion fission |
|---|---|
| Mitochondrion fusion | |
| response to stimulus | |
| GTP catabolic process | |
| GTPase activity | |
| visual perception | |
| neural tube closure | |
| cellular senescence | |
| mitochondrial fusion | |
| inner mitochondrial membrane organization | |
| axon transport of mitochondrion | |
| negative regulation of intrinsic apoptotic signaling pathway | |
| negative regulation of release of cytochrome c from mitochondria | |
| apoptotic process | |
| hydrolase activity | |
| mitochondrion organization | |
| mitochondrial fission | |
| nucleotide binding | |
| GTP binding | |
| magnesium ion binding | |
| membrane | |
| integral component of membrane | |
| mitochondrial crista | |
| mitochondrial outer membrane | |
| mitochondrial inner membrane | |
| mitochondrial intermembrane space | |
| mitochondrion | |
| dendrite |
| LocusLink ID | 4976 |
|---|---|
| 74143 | |
| 171116 |
| Cell Localization | Mitochondria |
|---|---|
| Mitochondrion inner membrane | |
| Mitochondrion intermembrane space |
| GO ID | 0005525 |
|---|---|
| 0003924 | |
| 0000287 | |
| 0006184 | |
| 0006915 | |
| 0019896 | |
| 0090398 | |
| 0007007 | |
| 0000266 | |
| 0008053 | |
| 0007005 | |
| 0090201 | |
| 0001843 | |
| 0007601 | |
| 0030425 | |
| 0016021 | |
| 0030061 | |
| 0005743 | |
| 0005758 | |
| 0005741 | |
| 0005739 | |
| 0016787 | |
| 0000166 | |
| 2001243 | |
| 0050896 | |
| 0016020 |
| Alias | NPG |
|---|---|
| NTG | |
| MGM1 | |
| largeG | |
| dynamin-like 120 kDa protein, mitochondrial | |
| optic atrophy protein 1 | |
| mitochondrial dynamin-like GTPase | |
| dynamin-like guanosine triphosphatase | |
| lilr3 | |
| AI225888 | |
| AI847218 | |
| mKIAA0567 | |
| 1200011N24Rik | |
| optic atrophy 1 homolog | |
| large GTP-binding protein | |
| optic atrophy protein 1 homolog | |
| RN protein | |
| mitochondrial OPA1 | |
| optic atrophy 1-like protein | |
| optic atrophy 1 (autosomal dominant) | |
| KIAA0567 | |
| optic atrophy 1 isoform VII | |
| optic atrophy 1 isoform 7 | |
| optic atrophy 1 isoform 8 | |
| optic atrophy 1 isoform 6 | |
| optic atrophy 1 isoform II | |
| optic atrophy 1 isoform III | |
| optic atrophy 1 isoform IV | |
| optic atrophy 1 isoform V | |
| optic atrophy 1 isoform 5 | |
| optic atrophy 1 isoform VI | |
| optic atrophy 1 isoform VIII | |
| optic atrophy 1 protein | |
| optic atrophy 1-like gene | |
| optic atrophy-1 | |
| OTTHUMP00000195065 | |
| optic atrophy I gene | |
| mitochondrial Dynamin-like 120 kDa protein | |
| optic atrophy 1 isoform 3 | |
| optic atrophy I protein | |
| optic atrophy 1 isoform 2 | |
| AI595343 | |
| FLJ12460 | |
| LOC100046998 | |
| MGC124921 | |
| OPA1 | |
| optic atrophy 1 | |
| optic atrophy 1 gene | |
| optic atrophy 1 isoform 1 | |
| optic atrophy 1 homolog (human) | |
| 1200011N24 | |
| LOC171116 |
| Mouse chromosome position | 16 20.65 cM |
|---|
| OMIM ID | 605290 |
|---|---|
| 165500 | |
| 606657 | |
| 125250 |
| Rat chromosome position | 11q22 |
|---|
| Hugo ID | 8140 |
|---|
| Human chromosome position | 3q28-q29 |
|---|
| Swiss-Prot Accession | O60313 |
|---|---|
| E5KLK2 | |
| E5KLK0 | |
| E5KLK1 | |
| E5KLJ6 | |
| E5KLJ9 | |
| E5KLJ7 | |
| E5KLJ5 | |
| H7BX01 | |
| P58281 | |
| Q2TA68 | |
| A6H6Q3 | |
| Q3ULA5 | |
| Q8BKU7 | |
| Q8BLL3 | |
| Q8BM08 | |
| Q8R3J7 | |
| O08681 | |
| Q5MPP1 | |
| Q5MPP2 | |
| Q5QJE9 | |
| Q6B435 | |
| Q6R611 | |
| D3DNW4 |
| PIR ID | T00336 |
|---|
| Unigene ID | Hs.594504 |
|---|---|
| Mm.274285 | |
| Rn.9783 | |
| Rn.225901 |
| KEGG ID | hsa:4976 |
|---|---|
| mmu:74143 | |
| rno:171116 |
| Swiss-Prot ID | OPA1_MOUSE |
|---|---|
| OPA1_RAT | |
| OPA1_HUMAN |
| EC Number | 3.6.5.5 |
|---|
| Ensembl ID | ENSG00000198836 |
|---|---|
| ENSP00000376233 | |
| ENST00000392438 | |
| ENSP00000354781 | |
| ENST00000361150 | |
| ENSP00000354429 | |
| ENST00000361828 | |
| ENSP00000355311 | |
| ENST00000361715 | |
| ENSP00000354681 | |
| ENST00000361908 | |
| ENSP00000355324 | |
| ENST00000361510 | |
| ENSMUSG00000038084 | |
| ENSMUSP00000124223 | |
| ENSMUST00000160597 | |
| ENSMUSP00000123880 | |
| ENSMUST00000161186 | |
| ENSRNOG00000001717 | |
| ENSRNOP00000002343 | |
| ENSRNOT00000002343 |
| Homologene ID | 14618 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 1921393 |
|---|
| RGD ID | 708423 |
|---|
| MedScan ID | 4976 |
|---|