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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
  • Dynamin-Like 120 KDa Protein 2
  • Mitochondrial 2
  • EC 3.6.5.5 4
  • KIAA0567 4
  • LargeG 3
  • MGM1 3
  • NPG 3
  • NTG 3

External Ids for OPA1 Gene

Previous GeneCards Identifiers for OPA1 Gene

  • GC03P190374
  • GC03P194572
  • GC03P194713
  • GC03P194632
  • GC03P194793
  • GC03P193311
  • GC03P190698

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 deafness and autosomal dominant optic atrophy, classic form. 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

Regulatory Elements for OPA1 Gene

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

Genomic Location for OPA1 Gene

Chromosome:
3
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

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.
  • Ubiquitination at Lys 228 and Lys 243
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for OPA1 Gene

Domains & Families for OPA1 Gene

Protein Domains for OPA1 Gene

Graphical View of Domain Structure for InterPro Entry

O60313

UniProtKB/Swiss-Prot:

OPA1_HUMAN :
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
Domain:
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
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

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OPA1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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
nucleus 4
cytosol 2
extracellular 1
plasma membrane 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 17545159
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 & Interactions for OPA1 Gene

SuperPathways for OPA1 Gene

No Data Available

PCR Array Products

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 --
GO:0006915 apoptotic process IEA --
GO:0007005 mitochondrion organization NAS 11017080
genes like me logo Genes that share ontologies with OPA1: view

No data available for Pathways by source and SIGNOR curated interactions for OPA1 Gene

Drugs & Compounds for OPA1 Gene

(3) Drugs for OPA1 Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
ATP Pharma Activator 0

(2) Additional Compounds for OPA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OPA1

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for OPA1 Gene

This gene is overexpressed in Nasal epithelium (12.0) and Bone (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with OPA1: view

Protein tissue co-expression partners for OPA1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia OPA1 35
  • 93.41 (n)
  • 97.49 (a)
OPA1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC477129 35
  • 92.61 (n)
  • 97.79 (a)
-- 36
  • 90 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Opa1 35
  • 88.65 (n)
  • 96.35 (a)
Opa1 16
Opa1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OPA1 35
  • 99.47 (n)
  • 99.5 (a)
OPA1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Opa1 35
  • 87.99 (n)
  • 95.94 (a)
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
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)
zebrafish
(Danio rerio)
Actinopterygii opa1 35
  • 71.83 (n)
  • 79.08 (a)
opa1 36
  • 79 (a)
OneToMany
opa1 36
  • 79 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2951 35
fruit fly
(Drosophila melanogaster)
Insecta CG8479 37
  • 54 (a)
opa1-like 35
  • 55.2 (n)
  • 54.8 (a)
opa1-like 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011286 35
  • 56.98 (n)
  • 59.19 (a)
worm
(Caenorhabditis elegans)
Secernentea D2013.5 37
  • 56 (a)
eat-3 35
  • 55.96 (n)
  • 53.05 (a)
eat-3 36
  • 50 (a)
OneToOne
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

Variation tolerance for OPA1 Gene

Residual Variation Intolerance Score: 10.38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.80; 95.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OPA1 Gene

HapMap Linkage Disequilibrium report
OPA1
Human Gene Mutation Database (HGMD)
OPA1

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

Disorders for OPA1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for OPA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
optic atrophy 1 and deafness
autosomal dominant optic atrophy, classic form
  • autosomal dominant optic atrophy, kjer type
optic atrophy plus syndrome
  • optic atrophy
optic atrophy 1
  • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
glaucoma, normal tension
  • normal tension glaucoma
- elite association
Search OPA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OPA1_HUMAN
  • 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.
  • 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.

Relevant External Links for OPA1

Genetic Association Database (GAD)
OPA1
Human Genome Epidemiology (HuGE) Navigator
OPA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OPA1
genes like me logo Genes that share disorders with OPA1: view

No data available for Genatlas for OPA1 Gene

Publications for OPA1 Gene

  1. Genome-wide expression profile of LHON patients with the 11778 mutation. (PMID: 19726426) Abu-Amero K.K. … Bosley T.M. (Br J Ophthalmol 2010) 23 67
  2. Genetically determined optic neuropathies. (PMID: 19915464) Milea D. … Bonneau D. (Curr. Opin. Neurol. 2010) 23 67
  3. OPA1 increases the risk of normal but not high tension glaucoma. (PMID: 19581274) Yu-Wai-Man P. … Chinnery P.F. (J. Med. Genet. 2010) 23 67
  4. Autosomal dominant optic neuropathy and sensorineural hearing loss associated with a novel mutation of WFS1. (PMID: 20069065) Hogewind B.F. … Cremers C.W. (Mol. Vis. 2010) 23 67
  5. Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. (PMID: 20157369) Gallus G.N. … Federico A. (Mol. Vis. 2010) 23 67

Products for OPA1 Gene

Sources for OPA1 Gene

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