Property Summary

NCBI Gene PubMed Count 177
Grant Count 139
R01 Count 84
Funding $12,547,488.53
PubMed Score 292.46
PubTator Score 428.37

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
malignant mesothelioma 2.400 0.000
astrocytic glioma -1.800 0.009
ependymoma -2.300 0.009
oligodendroglioma -1.900 0.019
glioblastoma -2.100 0.000
osteosarcoma -2.037 0.000
atypical teratoid / rhabdoid tumor -2.000 0.000
medulloblastoma -1.100 0.001
medulloblastoma, large-cell -2.000 0.000
tuberculosis and treatment for 3 months -1.200 0.004
Breast cancer 3.500 0.024
pediatric high grade glioma -1.700 0.000
pilocytic astrocytoma -1.800 0.000
Pick disease -1.400 0.000
ovarian cancer 1.400 0.008

Synonym

Accession O60313 D3DNW4
Symbols NPG
NTG
MGM1
BERHS
largeG
MTDPS14

Gene

Gene RIF (159)

PMID Text
26905822 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
26561570 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.
26400325 Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree
26385429 Genotype-phenotype heterogeneity in OPA1 autosomal-dominant optic atrophy (ADOA). is evident when inner retinal atrophy is examined as a function of age.
26360011 OPA1 variants confer risk of leprosy in Chinese Han population and may affect OPA1 expression, mitochondrial function and antimicrobial pathways.
26194196 Heterozygous mutation in OPA1 disrupts the GTPase domain of OPA1 and is associated with phenotypically variable ADOA Plus.
25820230 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.
25796301 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
25794858 Distributed abnormalities of diffusivity indexes might reflect abnormal intracellular mitochondrial morphology as well as alteration of protein levels due to OPA1 mutations.
25744979 OPA1 mutations induced mitochondrial fragmentation, uncoupled mitochondrial respiration, and elicited dysfunctional bioenergetics.
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AA Sequence

MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPL      1 - 70
RKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIV     71 - 140
WEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKVS    141 - 210
DKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDA    211 - 280
SYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDL    281 - 350
TKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFS    351 - 420
ISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKL    421 - 490
FPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESV    491 - 560
EQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVST    561 - 630
HVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKL    631 - 700
KEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPD    701 - 770
WKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQV    771 - 840
YRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNV    841 - 910
KEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK                        911 - 960
//

Text Mined References (187)

PMID Year Title
26905822 2016 Molecular Impairment Mechanisms of Novel OPA1 Mutations Predicted by Molecular Modeling in Patients With Autosomal Dominant Optic Atrophy and Auditory Neuropathy Spectrum Disorder.
26561570 2016 Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
26400325 2015 Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree.
26385429 2015 Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.
26360011 2015 Common variants of OPA1 conferring genetic susceptibility to leprosy in Han Chinese from Southwest China.
26194196 2015 A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25820230 2015 Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
25796301 2015 Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.
25794858 2015 Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.
More...