Recombinant Human Dynamin-like 120 kDa protein, mitochondrial(OPA1)

Code CSB-CF016340HU
Size Pls inquire
Source in vitro E.coli expression system
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Product Details

Target Names OPA1
Uniprot No. O60313
Alternative Names Dynamin like 120 kDa protein; Dynamin like 120 kDa protein; mitochondrial; Dynamin-like 120 kDa protein; form S1; FLJ12460; Juvenile kjer type optic atrophy; KIAA0567; KJER type; Large GTP binding protein; largeG; MGM1; Mitochondrial dynamin like 120 kDa protein; Mitochondrial dynamin like GTPase; NPG; NTG; OAK; OPA 1; opa1; OPA1 gene; OPA1_HUMAN; Optic atrophy 1 (autosomal dominant); OPTIC ATROPHY 1; Optic atrophy 1 gene protein; Optic atrophy 1 homolog (human); Optic atrophy protein 1; Optic atrophy protein 1 homolog
Species Homo sapiens (Human)
Expression Region 195-960
Target Protein Sequence ATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKG IHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIF PRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEG CTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIIL CIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMK ALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWK MVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPK HWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAW ETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRS ISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNE LEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCN LCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVL EDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK
Protein Length Full Length of Mature Protein
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

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Target Background

Function
(From Uniprot)
Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission
Gene References into Functions
  1. Our data indicate that the LEU396ARG mutation in OPA1 is associated with severe dominant optic atrophy. PMID: 29350691
  2. OPA1 gene therapy prevents retinal ganglion cell loss in a dominant optic atrophy mouse model. PMID: 29410463
  3. We have generated a human iPSC line IISHDOi003-A from fibroblasts of a patient with a dominant optic atrophy 'plus' phenotype, harbouring a heterozygous mutation, c.1635C>A; p.Ser545Arg, in the OPA1 gene. PMID: 29034899
  4. OPA1 is a dynamin-related GTPase that controls mitochondrial dynamics, cristae integrity, energetics and mitochondrial DNA maintenance, with eight isoforms being characterized. (Review) PMID: 29382469
  5. Reports an assessment of the afferent visual system and OCT examination in an Italian cohort of fifty-two fully penetrant probands affected by Autosomal Dominant Optic Atrophy (ADOA) with OPA1 mutations and eight asymptomatic carriers of OPA1 mutations. Visual acuity and OCT data in missense mutations were compared with those associated with mutations inducing haploinsufficiency, and correlated with age in both groups. PMID: 29111013
  6. we propose that the SIRT4-OPA1 axis is causally linked to mitochondrial dysfunction and altered mitochondrial dynamics that translates into aging-associated decreased mitophagy based on an unbalanced mitochondrial fusion/fission cycle. PMID: 29081403
  7. Data indicate genotype-phenotype correlations between various types of optic Atrophy 1 (OPA1) mutation and mitophagy. PMID: 28378518
  8. The results show that a metabolic shift from glycolysis in young to mitochondrial respiration in old normal human fibroblasts occurs during chronological lifespan, and MFN1 and OPA1 regulate this process. PMID: 28758339
  9. Genetic testing identified disease-causing mutations in 34% of referred cases, with the majority of these in OPA1. Patients with mutations in OPA1 were more likely to have a family history of disease; however, 30.4% of patients without a family history were also found to have an OPA1 mutation. PMID: 28848318
  10. OPA1 gene mutations were identified in Han Chinese patients with suspected Optic Neuropathy. PMID: 26867657
  11. Identification of genomic rearrangements or pathogenic variants of OPA1 is meaningful for disease prognosis and proper genetic counseling in DOA consultation. PMID: 28668999
  12. In brown adipocytes indirect evidence support the notion that OPA1 regulation of fission serves to increase thermogenesis, which thereby contributes to dissipation of energy. PMID: 28427098
  13. Stabilization of OPA1 impedes cristae remodeling. PMID: 28228254
  14. Our combination of proteomics, biochemistry, genetics, and electron tomography provides a unifying model for mammalian cristae biogenesis by OPA1 and MICOS. PMID: 27974214
  15. The splice site mutation (c.985G>T) identified in the present study led to exon 10 skipping (c.985_1065del, p.V329_D355del), suggesting loss-of-function of the GTPase domain of the OPA1 protein, which is likely to cause haplo-insufficiency, a major disease mechanism in DOA. PMID: 26854526
  16. study identifies a novel pathogenic OPA1 mutation and shows that it is located in the transcript region not prone for NMD activation PMID: 28841713
  17. OPA1 gene screening in patients with bilateral optic atrophy is an important part of clinical evaluation as it may establish correct clinical diagnosis PMID: 27860320
  18. OPA1 and cardiolipin cooperate in heterotypic mitochondrial inner membrane fusion. PMID: 28628083
  19. We propose that OPA1 stabilizes respiratory chain supercomplexes in a conformation that enables respiring mitochondria to compensate a drop in Deltapsim by an explosive matrix pH flash. PMID: 28174208
  20. We report the first cases of genetically confirmed OPA1-related autosomal-dominant optic atrophy from Singapore, including a novel mutation causing 'ADOA plus' syndrome. PMID: 27858935
  21. contrary to conventional notion, S-OPA1 is fully competent for maintaining mitochondrial energetics and cristae structure PMID: 28298442
  22. we analyzed ophthalmological data of a multicentre OPA1 patient cohort and found that women undergo more severe visual loss at adolescence and greater progressive thinning of the retinal nerve fibres than males. Thus, we disclosed a gender-dependent effect on ADOA severity, involving for the first time steroids and Muller glial cells, responsible for RGC degeneration. PMID: 27260406
  23. The architecture of dendritic arborization in patients with OPA1 mutations is not known, but our data support the idea that loss of dendritic arborization may be involved in the pathogenesis of DOA rather than just population loss. PMID: 28125838
  24. OPA1 disclosed a de novo heterozygous deletion c.2012+4_2012+7delAGTA resulting in exon 18 and 19 skipping, which was not detected in healthy family members. PMID: 28245802
  25. This study demonstrated increased mitophagy and excessive mitochondrial fragmentation in primary human cultures associated with DOA plus due to biallelic OPA1 mutations. PMID: 27974645
  26. The present study identified novel compound heterozygous OPA1 mutations in a patient with recessive optic atrophy, sensorimotor neuropathy and congenital cataracts, indicating an expansion of the clinical spectrum of pathologies associated with OPA1 mutations. PMID: 27150940
  27. Optic atrophy type 1, caused by mutations in the OPA1 gene is believed to be the most common hereditary optic neuropathy, and most patients inherit a mutation from an affected parent. In this study we used whole-exome sequencing to investigate the genetic aetiology in a patient affected with isolated optic atrophy. Exome results identified a novel de novo OPA1 mutation. PMID: 27265430
  28. Findings show a new mode of regulation of the mitochondrial fusion proteins, Mfns degradation or OPA1 processing, in response to mitochondrial morphology. PMID: 26935475
  29. Loss of OPA1 protein function by pathogenic OPA1 gene mutation induces increased mitochondrial fragmentation that promotes instability of the mitochondrial respiratory chain complexes. PMID: 27585216
  30. Two heterozygous mutations, p.T414P (c.1240A>C) and p.T540P (c.1618A>C), located in the GTPase and middle domains of OPA1, respectively, were identified in two patients.These two different conformational changes might result in decreased GTPase activities that trigger autosomal dominant optic atrophy associated with auditory neuropathy spectrum disorder PMID: 26905822
  31. A causal link between a pathogenic homozygous OPA1 mutation and hypertrophic cardiomyopathy with optic atrophy was established.It emphasise the vital role played by OPA1 in mitochondrial biogenesis and mtDNA maintenance. PMID: 26561570
  32. OPA1 variants confer risk of leprosy in Chinese Han population and may affect OPA1 expression, mitochondrial function and antimicrobial pathways. PMID: 26360011
  33. Genotype-phenotype heterogeneity in OPA1 autosomal-dominant optic atrophy (ADOA). is evident when inner retinal atrophy is examined as a function of age. PMID: 26385429
  34. Heterozygous mutation in OPA1 disrupts the GTPase domain of OPA1 and is associated with phenotypically variable ADOA Plus. PMID: 26194196
  35. Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree PMID: 26400325
  36. Data show that OPA1 physiological levels are important in cardiovascular health by maintaining mitochondrial shape and respiratory function, while its down-regulation is associated with cardiovascular disease. [review] PMID: 25557256
  37. increased percentage of apoptotic cells in autosomal dominant optic atrophy patients compared to controls; suggests susceptibility of ADOA cells to oxidative stress and correlation between OPA1 protein dysfunctions and morphological-functional alterations to mitochondria; also results imply sensitivity of mutated protein to free radical damage PMID: 25796301
  38. Distributed abnormalities of diffusivity indexes might reflect abnormal intracellular mitochondrial morphology as well as alteration of protein levels due to OPA1 mutations. PMID: 25794858
  39. A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family. PMID: 25374051
  40. Two heterozygous OPA1 missense mutations affecting highly conserved amino acid positions (p.G488R, p.A495V) were associated with chronic progressive external ophthalmoplegia, parkinsonism, and dementia in two Italian families. PMID: 25820230
  41. OPA1 mutations induced mitochondrial fragmentation, uncoupled mitochondrial respiration, and elicited dysfunctional bioenergetics. PMID: 25744979
  42. The results of this study indicated that underlying the hearing impairment in patients carrying OPA1 missense mutations is a disordered synchrony in auditory nerve fibre activity resulting from neural degeneration affecting the terminal dendrites. PMID: 25564500
  43. Cleavage of the inner membrane fusion factor L-OPA1 is prevented due to the failure to activate the inner membrane protease OMA1 in mitochondria that have a collapsed membrane potential. PMID: 24634514
  44. a novel way in which OPA1 senses energy substrate availability, which modulates its function in the regulation of mitochondrial architecture in a SLC25A protein-dependent manner. PMID: 25298396
  45. OMA1 processing is positively correlated with OPA1 cleavage at the S1 site and the regulation of mitochondrial morphology. PMID: 24719224
  46. The LHON-mtDNA mutations are the most common genetic defects, followed by the OPA1 mutations, in this Chinese cohort. PMID: 25205859
  47. These findings demonstrate that (a) p53 and Oma1 mediate L-Opa1 processing, (b) mitochondrial fragmentation is involved in CDDP-induced apoptosis in OVCA and CECA cells, and (c) dysregulated mitochondrial dynamics PMID: 25112877
  48. we report four cases of children affected by Behr syndrome associated with htetrozygous OPA1 mutation PMID: 25012220
  49. These findings provide additional information regarding the genotype-phenotype correlation and establish the role of the OPA1 gene in Greek patients with autosomal dominant optic atrophy. PMID: 24883014
  50. patients with mutations in the OPA1 gene has shown that about 20% of them present symptoms of a multiple system disease, which may include peripheral neuropathy [review] PMID: 25137924

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Involvement in disease Optic atrophy 1 (OPA1); Dominant optic atrophy plus syndrome (DOA+); Behr syndrome (BEHRS); Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14)
Subcellular Location Mitochondrion inner membrane, Single-pass membrane protein, Mitochondrion intermembrane space, Mitochondrion membrane
Protein Families TRAFAC class dynamin-like GTPase superfamily, Dynamin/Fzo/YdjA family
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, thyr
Database Links

HGNC: 8140

OMIM: 125250

KEGG: hsa:4976

STRING: 9606.ENSP00000354681

UniGene: Hs.594504

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