OPA1 - OPA1 mitochondrial dynamin like GTPase Gene
Also Known as NPG; NTG; MGM1; BERHS; largeG; MTDPS14
Species: Homo sapiens
About OPA1
This gene has 32 transcripts (splice variants), 214 orthologues, 6 paralogues and is associated with 10 phenotypes. Ubiquitous expression in brain (RPKM 20.5), heart (RPKM 17.2) and 25 other tissues.
Summary
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]
OPA1 Products (10)
| mRNA | Protein | Name |
|---|---|---|
| NM_001354663.2 | NP_001341592.1 | dynamin-like 120 kDa protein, mitochondrial isoform 9 |
| NM_001354664.2 | NP_001341593.1 | dynamin-like 120 kDa protein, mitochondrial isoform 10 |
| NM_015560.3 | NP_056375.2 | dynamin-like 120 kDa protein, mitochondrial isoform 1 preproprotein |
| NM_130831.3 | NP_570844.1 | dynamin-like 120 kDa protein, mitochondrial isoform 2 |
| NM_130832.3 | NP_570845.1 | dynamin-like 120 kDa protein, mitochondrial isoform 3 |
| NM_130833.3 | NP_570846.1 | dynamin-like 120 kDa protein, mitochondrial isoform 4 |
| NM_130834.3 | NP_570847.2 | dynamin-like 120 kDa protein, mitochondrial isoform 5 preproprotein |
| NM_130835.3 | NP_570848.1 | dynamin-like 120 kDa protein, mitochondrial isoform 6 |
| NM_130836.3 | NP_570849.2 | dynamin-like 120 kDa protein, mitochondrial isoform 7 |
| NM_130837.3 | NP_570850.2 | dynamin-like 120 kDa protein, mitochondrial isoform 8 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables GTPase activity |
IDA
IDA: Inferred from direct assay
|
20185555 | GOA |
| enables GTPase-dependent fusogenic activity |
IDA
IDA: Inferred from direct assay
|
28628083 | GOA |
| enables cardiolipin binding |
IDA
IDA: Inferred from direct assay
|
20185555 | GOA |
| enables membrane bending activity |
IDA
IDA: Inferred from direct assay
|
32228866 | GOA |
| enables phosphatidic acid binding |
IDA
IDA: Inferred from direct assay
|
20185555 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20436456 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrial crista |
IDA
IDA: Inferred from direct assay
|
12504110 | GOA |
| is active in mitochondrial inner membrane |
IDA
IDA: Inferred from direct assay
|
37612504 | GOA |
| is active in mitochondrial intermembrane space |
IDA
IDA: Inferred from direct assay
|
32228866 | GOA |
| located in mitochondrial intermembrane space |
IDA
IDA: Inferred from direct assay
|
17008324 | GOA |
| located in mitochondrial outer membrane |
IDA
IDA: Inferred from direct assay
|
12504110 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
17545159 | GOA |
OPA1 Protein Structure
Dynamin_N: Dynamin family (291 - 469)
- 0
- 200
- 400
- 600
- 800
- 960 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dynamin-like 120 kDa protein, mitochondrial |
|
OPA1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
OPA1 | O60313 | LRRK2 | Homo sapiens | Q5S007 | 24282027 | |
|
Intra
|
OPA1 | O60313 | LRRK2 | Homo sapiens | Q5S007 | 24282027 | |
|
Intra
|
OPA1 | O60313 | BNIP3 | Homo sapiens | Q12983 | 20436456 |
OPA1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80255 | OPA1 Antibody (YA256) | WB, IHC-P, FC | Human, Mouse, Rat |
| HY-P86998 | OPA1 Antibody (YA6691) | WB, IHC-P, ICC/IF, FC, IP | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Optic Atrophy 1 |
|
|
| Mitochondrial Dna Depletion Syndrome 14 |
|
|
| Behr Syndrome |
|
|
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
|
| Glaucoma, Normal Tension |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
|
| Mitochondrial Disease |
|
|
| Fundus Dystrophy |
|
|
| Scotoma |
|
|
| Optic Nerve Disease |
|
|
| Open-Angle Glaucoma |
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
|
| Neuropathy |
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Sensorineural Hearing Loss |
|
|
| Cranial Nerve Disease |
|
|
| Optic Atrophy 5 |
|
|
| Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
|
| Optic Atrophy 3, Autosomal Dominant |
|
|
| Optic Atrophy 11 |
|
|
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
|
| Optic Atrophy 9 |
|
|
| Frontotemporal Dementia |
|
|
| Kearns-Sayre Syndrome |
|
|
| Chronic Progressive External Ophthalmoplegia |
|
|
| Barth Syndrome |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
| Mitochondrial Myopathy |
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
|
| Cataract |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Neuromuscular Disease |
|
|
| Peripheral Nervous System Disease |
|
|
| Leigh Syndrome |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Dilated Cardiomyopathy |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | OPA1 | RGD | RGD:708423 |
| Macaca mulatta | OPA1 | VGNC | VGNC:75586 |
| Felis catus | OPA1 | VGNC | VGNC:102793 |
| Mus musculus | OPA1 | MGD | MGI:1921393 |
| Bos taurus | OPA1 | VGNC | VGNC:32432 |
| Others | OPA1 | NCBI |