Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4976
Gene name Gene Name - the full gene name approved by the HGNC.
OPA1 mitochondrial dynamin like GTPase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OPA1
Synonyms (NCBI Gene) Gene synonyms aliases
BERHS, MGM1, MTDPS14, NPG, NTG, largeG
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q29
Summary Summary of gene provided in NCBI Entrez Gene.
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 pr
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs166850 T>A,C Risk-factor, benign Intron variant
rs10451941 T>A,C Benign, risk-factor Intron variant
rs28939082 G>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs80356528 G>T Pathogenic Splice donor variant
rs80356529 G>A,C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019759 hsa-miR-375 Microarray 20215506
MIRT024444 hsa-miR-215-5p Microarray 19074876
MIRT026273 hsa-miR-192-5p Microarray 19074876
MIRT047347 hsa-miR-34a-5p CLASH 23622248
MIRT044835 hsa-miR-320a CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000266 Process Mitochondrial fission TAS 12509422
GO:0000287 Function Magnesium ion binding NAS 11017080
GO:0001843 Process Neural tube closure IEA
GO:0003924 Function GTPase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605290 8140 ENSG00000198836
Protein
UniProt ID O60313
Protein name Dynamin-like GTPase OPA1, mitochondrial (EC 3.6.5.5) (Optic atrophy protein 1) [Cleaved into: Dynamin-like GTPase OPA1, long form (L-OPA1); Dynamin-like GTPase OPA1, short form (S-OPA1)]
Protein function Dynamin-related GTPase that is essential for normal mitochondrial morphology by mediating fusion of the mitochondrial inner membranes, regulating cristae morphology and maintaining respiratory chain function (PubMed:16778770, PubMed:17709429, Pu
PDB 6JTG , 8CT1 , 8CT9 , 8EEW , 8EF7 , 8EFF , 8EFR , 8EFS , 8EFT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00350 Dynamin_N 291 469 Dynamin family Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in retina (PubMed:11017079, PubMed:11017080, PubMed:11810270). Also expressed in brain, testis, heart and skeletal muscle (PubMed:11810270). Low levels of all isoforms expressed in a variety of tissues (PubMed:11810270
Sequence
MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQ
QFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFD
QWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLK
DFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKEN
KELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAG
KTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALR
HEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFS
ISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKV
DLAEKNVASPS
RIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVT
TRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNE
ILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQW
TDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAED
SLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKN
RTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQV
YRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTN
TEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK
Sequence length 960
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Mitophagy - animal
Spinocerebellar ataxia
  Regulation of Apoptosis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
abortive cerebellar ataxia Abortive cerebellar ataxia rs80356530, rs879255593, rs879255595 N/A
Cardiomyopathic Mitochondrial DNA Depletion Syndrome mitochondrial dna depletion syndrome 14 (cardioencephalomyopathic type) rs398124303, rs869312995 N/A
Optic Atrophy optic atrophy rs398124299, rs80356529, rs761460379, rs727504060, rs1560327427, rs879255560, rs80356528, rs794727804, rs1064797303, rs1734162973, rs1716524583, rs863224127, rs104893753, rs1553784985, rs398124298
View all (5 more)
N/A
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy rs1577162868, rs879255592, rs398124303, rs879255513, rs80356530, rs387906899, rs121908375, rs398124298, rs794729196, rs121908376, rs387906900, rs80356529, rs387906901 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Auditory neuropathy auditory neuropathy spectrum disorder N/A N/A ClinVar
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Mental Depression Major depressive disorder N/A N/A GWAS
Optic Atrophy Plus Syndrome autosomal dominant optic atrophy plus syndrome N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36573240
adult multisystem inflammatory disease COVID 19 related Associate 18158317
Altitude Sickness Associate 29357502
Aortic Aneurysm Familial Abdominal 1 Associate 30252181
Ataxia Associate 18158317, 31673222
Atrophy Associate 12488262
Auditory neuropathy Associate 25564500, 31673222, 38456936
Autism Spectrum Disorder Associate 23333625
Barth Syndrome Associate 35676289
Behr syndrome Associate 27879217, 32883255