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Aliases for OPA1 Gene

Aliases for OPA1 Gene

  • Optic Atrophy 1 (Autosomal Dominant) 2 3
  • Dynamin-Like Guanosine Triphosphatase 2 3
  • Mitochondrial Dynamin-Like GTPase 2 3
  • Optic Atrophy Protein 1 3 4
  • NPG 3 6
  • NTG 3 6
  • Dynamin-Like 120 KDa Protein, Mitochondrial 3
  • Dynamin-Like 120 KDa Protein 2
  • Mitochondrial 2
  • EC 3.6.5.5 4
  • KIAA0567 4
  • LargeG 3
  • MGM1 3

External Ids for OPA1 Gene

Summaries for OPA1 Gene

Entrez Gene Summary for OPA1 Gene

  • This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for OPA1 Gene

OPA1 (Optic Atrophy 1 (Autosomal Dominant)) is a Protein Coding gene. Diseases associated with OPA1 include optic atrophy 1 and glaucoma, normal tension. GO annotations related to this gene include GTP binding and magnesium ion binding.

UniProtKB/Swiss-Prot for OPA1 Gene

  • Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusion barrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space. May also play a role in mitochondrial genome maintenance.

  • Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation of mitochondrial fusion.

Gene Wiki entry for OPA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPA1 Gene

Genomics for OPA1 Gene

Genomic Location for OPA1 Gene

Start:
193,593,144 bp from pter
End:
193,697,823 bp from pter
Size:
104,680 bases
Orientation:
Plus strand

Genomic View for OPA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OPA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPA1 Gene

Regulatory Elements for OPA1 Gene

Transcription factor binding sites by QIAGEN in the OPA1 gene promoter:

Proteins for OPA1 Gene

  • Protein details for OPA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60313-OPA1_HUMAN
    Recommended name:
    Dynamin-like 120 kDa protein, mitochondrial
    Protein Accession:
    O60313
    Secondary Accessions:
    • D3DNW4

    Protein attributes for OPA1 Gene

    Size:
    960 amino acids
    Molecular mass:
    111631 Da
    Quaternary structure:
    • Oligomeric complex consisting of membrane-bound and soluble forms of OPA1. Interacts with CHCHD3 and IMMT; these interactions occur preferentially with soluble OPA1 forms. Binds PARL. Interacts with PRELID1.
    SequenceCaution:
    • Sequence=AF416919; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

    Alternative splice isoforms for OPA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OPA1 Gene

Proteomics data for OPA1 Gene at MOPED

Post-translational modifications for OPA1 Gene

  • PARL-dependent proteolytic processing releases an antiapoptotic soluble form not required for mitochondrial fusion. Cleaved by OMA1 at position S1 following stress conditions.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys228 and Lys243

No data available for DME Specific Peptides for OPA1 Gene

Domains for OPA1 Gene

Protein Domains for OPA1 Gene

Graphical View of Domain Structure for InterPro Entry

O60313

UniProtKB/Swiss-Prot:

OPA1_HUMAN
Domain:
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.:
    • O60313
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.:
    • O60313
genes like me logo Genes that share domains with OPA1: view

No data available for Gene Families for OPA1 Gene

Function for OPA1 Gene

Molecular function for OPA1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: GTP + H(2)O = GDP + phosphate
UniProtKB/Swiss-Prot Function: Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusion barrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space. May also play a role in mitochondrial genome maintenance.
UniProtKB/Swiss-Prot Function: Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation of mitochondrial fusion.

Enzyme Numbers (IUBMB) for OPA1 Gene

Gene Ontology (GO) - Molecular Function for OPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding NAS 11017080
GO:0003924 GTPase activity TAS 11017080
GO:0005515 protein binding IPI 20436456
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with OPA1: view
genes like me logo Genes that share phenotypes with OPA1: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for OPA1 Gene

Localization for OPA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPA1 Gene

Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion intermembrane space.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OPA1 Gene COMPARTMENTS Subcellular localization image for OPA1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 2
nucleus 1

Gene Ontology (GO) - Cellular Components for OPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005741 mitochondrial outer membrane IDA 12504110
GO:0005743 mitochondrial inner membrane NAS 20436456
genes like me logo Genes that share ontologies with OPA1: view

Pathways for OPA1 Gene

SuperPathways for OPA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000002 mitochondrial genome maintenance IMP 18158317
GO:0000266 mitochondrial fission TAS 12509422
GO:0001843 neural tube closure IEA --
GO:0006184 obsolete GTP catabolic process --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with OPA1: view

No data available for Pathways by source for OPA1 Gene

Compounds for OPA1 Gene

(1) Novoseek inferred chemical compound relationships for OPA1 Gene

Compound -log(P) Hits PubMed IDs
atp 28 7
genes like me logo Genes that share compounds with OPA1: view

Transcripts for OPA1 Gene

Unigene Clusters for OPA1 Gene

Optic atrophy 1 (autosomal dominant):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OPA1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^
SP1: - - -
SP2: -
SP3:
SP4: - - -
SP5:
SP6:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for OPA1 Gene

GeneLoc Exon Structure for
OPA1
ECgene alternative splicing isoforms for
OPA1

Expression for OPA1 Gene

mRNA expression in normal human tissues for OPA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for OPA1 Gene

SOURCE GeneReport for Unigene cluster for OPA1 Gene Hs.594504

mRNA Expression by UniProt/SwissProt for OPA1 Gene

O60313-OPA1_HUMAN
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.
genes like me logo Genes that share expressions with OPA1: view

No data available for mRNA differential expression in normal tissues for OPA1 Gene

Orthologs for OPA1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for OPA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OPA1 35
  • 99.47 (n)
  • 99.5 (a)
OPA1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OPA1 35
  • 93.41 (n)
  • 97.49 (a)
OPA1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 90 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
LOC477129 35
  • 92.61 (n)
  • 97.79 (a)
mouse
(Mus musculus)
Mammalia Opa1 35
  • 88.65 (n)
  • 96.35 (a)
Opa1 16
Opa1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OPA1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 77 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Opa1 35
  • 87.99 (n)
  • 95.94 (a)
chicken
(Gallus gallus)
Aves OPA1 35
  • 78.52 (n)
  • 87.17 (a)
OPA1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OPA1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia opa1 35
  • 77.18 (n)
  • 89.58 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2951 35
zebrafish
(Danio rerio)
Actinopterygii opa1 35
  • 71.83 (n)
  • 79.08 (a)
opa1 36
  • 79 (a)
OneToMany
opa1 36
  • 79 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011286 35
  • 56.98 (n)
  • 59.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta opa1-like 35
  • 55.2 (n)
  • 54.8 (a)
opa1-like 36
  • 51 (a)
OneToOne
CG8479 37
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea eat-3 35
  • 55.96 (n)
  • 53.05 (a)
eat-3 36
  • 50 (a)
OneToOne
D2013.5 37
  • 56 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MGM1 36
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
OneToOne
Species with no ortholog for OPA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OPA1 Gene

ENSEMBL:
Gene Tree for OPA1 (if available)
TreeFam:
Gene Tree for OPA1 (if available)

Paralogs for OPA1 Gene

genes like me logo Genes that share paralogs with OPA1: view

No data available for Paralogs for OPA1 Gene

Variants for OPA1 Gene

Sequence variations from dbSNP and Humsavar for OPA1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs10419 -- 193,697,473(+) GCCTG(A/T)GCTTG utr-variant-3-prime
rs12630 -- 193,695,713(+) GCTGC(C/T)TTTTC utr-variant-3-prime
rs13025 -- 193,697,277(+) CTAAG(C/T)TGGTC utr-variant-3-prime
rs15959 -- 193,697,070(+) AGGGA(A/T)CATGG utr-variant-3-prime
rs100772 -- 193,641,403(-) ACCAA(C/G)CAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OPA1 Gene

Variant ID Type Subtype PubMed ID
dgv1547e1 CNV Complex 17122850
esv2449864 CNV Insertion 19546169
esv268105 CNV Insertion 20981092
esv273412 CNV Insertion 20981092
nsv10376 CNV Loss 18304495

Relevant External Links for OPA1 Gene

HapMap Linkage Disequilibrium report
OPA1
Human Gene Mutation Database (HGMD)
OPA1
Locus Specific Mutation Databases (LSDB)
OPA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPA1 Gene

Disorders for OPA1 Gene

(3) OMIM Diseases for OPA1 Gene (605290)

UniProtKB/Swiss-Prot

OPA1_HUMAN
  • Optic atrophy 1 (OPA1) [MIM:165500]: A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density. {ECO:0000269 PubMed:11017079, ECO:0000269 PubMed:11017080, ECO:0000269 PubMed:11440988, ECO:0000269 PubMed:11440989, ECO:0000269 PubMed:11810270, ECO:0000269 PubMed:12036970, ECO:0000269 PubMed:12566046, ECO:0000269 PubMed:14961560, ECO:0000269 PubMed:15948788, ECO:0000269 PubMed:16513463, ECO:0000269 PubMed:16617242, ECO:0000269 PubMed:18204809, ECO:0000269 PubMed:18360822, ECO:0000269 PubMed:19319978, ECO:0000269 PubMed:19325939, ECO:0000269 PubMed:19969356, ECO:0000269 PubMed:22382025, ECO:0000269 PubMed:22857269, ECO:0000269 PubMed:23401657}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]: A neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes. {ECO:0000269 PubMed:15531309, ECO:0000269 PubMed:16240368, ECO:0000269 PubMed:18065439, ECO:0000269 PubMed:18158317, ECO:0000269 PubMed:18195150, ECO:0000269 PubMed:23387428}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for OPA1 Gene

(13) Novoseek inferred disease relationships for OPA1 Gene

Disease -log(P) Hits PubMed IDs
optic atrophy autosomal dominant 98.8 60
optic atrophy 87.1 28
optic neuropathy 86.5 9
lebers hereditary optic neuropathy 86.2 3
charcot-marie-tooth disease 58 3

Relevant External Links for OPA1

GeneTests
OPA1
GeneReviews
OPA1
Genetic Association Database (GAD)
OPA1
Human Genome Epidemiology (HuGE) Navigator
OPA1
genes like me logo Genes that share disorders with OPA1: view

Publications for OPA1 Gene

  1. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. (PMID: 11017079) Delettre C. … Hamel C.P. (Nat. Genet. 2000) 3 4 23
  2. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. (PMID: 11017080) Alexander C. … Wissinger B. (Nat. Genet. 2000) 3 4 23
  3. Mutation spectrum and splicing variants in the OPA1 gene. (PMID: 11810270) Delettre C. … Hamel C.P. (Hum. Genet. 2001) 3 4 23
  4. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. (PMID: 11810296) Aung T. … Bhattacharya S.S. (Hum. Genet. 2002) 3 23 48
  5. OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484. (PMID: 12842213) Yamada T. … Kanai A. (Jpn. J. Ophthalmol. 2003) 3 23 48

Products for OPA1 Gene

  • Addgene plasmids for OPA1

Sources for OPA1 Gene

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