| Gene Information | |
|---|---|
| Gene Name | OPA1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 960 |
| Protein Names | Dynamin-like 120 kDa protein, mitochondrial (EC 3.6.5.5) (Optic atrophy protein 1) [Cleaved into: Dynamin-like 120 kDa protein, form S1] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000198836 ) |
| Evolutionary Stage | Opisthokonta |
| AlphaFoldDB | O60313 |
| Gene Card | OPA1 |
| Uniprot ID | O60313 |
| Pfam | PF00350; PF19434 |
| In ASD | no |
| Allosteric Prediction | no (-0.229356897) |
| Ortholog in Animals | Alpaca_ OPA1 ( ortholog_one2one ) Dog_ OPA1 ( ortholog_one2one ) GuineaPig_ OPA1 ( ortholog_one2one ) Macaque_ OPA1 ( ortholog_one2one ) Mouse_ Opa1 ( ortholog_one2one ) Pig_ OPA1 ( ortholog_one2one ) Rat_ Opa1 ( ortholog_one2one ) Rabbit_ OPA1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | DNM1L, DNM2, DNM3, MX1, MX2, DNM1 |
| Tissue | NA |
| 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}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
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| PDB | 6JTG (X-ray 2.40A ) |
| DBSNP | rs794726939 rs151103940 rs201214736 rs530896300 rs7624750 rs754177232 rs34307082 rs121908375 rs780333963 rs28939082 rs770966290 rs190223702 rs780922750 rs143319805 rs727504060 rs727504060 rs879255594 rs387906900 rs80356529 rs1577244261 rs869312995 rs398124298 rs879255592 rs140606054 rs1711513392 rs121908376 rs147077380 rs778998909 rs1292852465 rs190235251 rs1064797302 rs863224138 rs387906901 rs145710079 rs138350727 |
| Subcellular location [CC] | Mitochondrion inner membrane {ECO:0000269|PubMed:11017079, ECO:0000269|PubMed:16778770, ECO:0000269|PubMed:20974897, ECO:0000269|PubMed:28746876}; Single-pass membrane protein {ECO:0000255}. Mitochondrion intermembrane space {ECO:0000250|UniProtKB:P58281}. Mitochondrion membrane {ECO:0000269|PubMed:24616225}. Note=Detected at contact sites between endoplasmic reticulum and mitochondrion membranes. {ECO:0000269|PubMed:24616225}. |
| Mouse PG classification | NA |
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