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 protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominan... See more...

Aliases for OPA1 Gene

Aliases for OPA1 Gene

  • OPA1 Mitochondrial Dynamin Like GTPase 2 3 5
  • Dynamin-Like 120 KDa Protein, Mitochondrial 2 3 4
  • Dynamin-Like Guanosine Triphosphatase 2 3
  • Optic Atrophy 1 (Autosomal Dominant) 2 3
  • Mitochondrial Dynamin-Like GTPase 2 3
  • Optic Atrophy Protein 1 3 4
  • OPA1, Mitochondrial Dynamin Like GTPase 2
  • EC 3.6.5.5 4
  • KIAA0567 4
  • MTDPS14 3
  • LargeG 3
  • BERHS 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

  • 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 protein also sequesters cytochrome c. 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. [provided by RefSeq, Aug 2017]

GeneCards Summary for OPA1 Gene

OPA1 (OPA1 Mitochondrial Dynamin Like GTPase) is a Protein Coding gene. Diseases associated with OPA1 include Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy and Optic Atrophy 1. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Glucose / Energy Metabolism. Gene Ontology (GO) annotations related to this gene include GTP binding and magnesium ion binding. An important paralog of this gene is DNM1.

UniProtKB/Swiss-Prot Summary for OPA1 Gene

  • Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission (PubMed:16778770, PubMed:17709429, PubMed:20185555, PubMed:24616225, PubMed:28746876). Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion (PubMed:17709429). Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation (PubMed:20185555). The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes (PubMed:20185555). Plays a role in remodeling cristae and the release of cytochrome c during apoptosis (By similarity). 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 (By similarity). Plays a role in mitochondrial genome maintenance (PubMed:20974897, PubMed:18158317).
  • [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.
  • Isoforms that contain the alternative exon 4b (present in isoform 4 and isoform 5) are required for mitochondrial genome maintenance, possibly by anchoring the mitochondrial nucleoids to the inner mitochondrial membrane.

Gene Wiki entry for OPA1 Gene

Additional gene information for OPA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OPA1 Gene

Genomics for OPA1 Gene

GeneHancer (GH) Regulatory Elements for OPA1 Gene

Promoters and enhancers for OPA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J193592 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 657 3.6 RXRA EP300 FOXK2 ZBTB40 ZNF217 CTCF NRF1 MYC TCF12 POLR2G ATP13A4 ENSG00000236297 OPA1 lnc-ATP13A4-5 piR-31922-011
GH03J193688 Enhancer 1.1 Ensembl ENCODE 8.6 +94.8 94757 2.2 AFF1 HES1 MYC RUNX1 CTBP1 RBM25 HDAC3 NCOR1 FOXA2 NFIC ATP13A4 OPA1-AS1 HES1 ENSG00000232874 OPA1 LOC102724808 KR153194-140
GH03J194082 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.4 +488.9 488857 5.6 EP300 ZIC2 ZBTB11 TRIM28 ATF2 ZNF341 ZSCAN9 NR2F2 NFRKB TCF12 ENSG00000232874 HES1 OPA1 piR-57133-437 ENSG00000229964 ENSG00000276407 LOC102724877
GH03J193656 Enhancer 1 Ensembl ENCODE 8.6 +64.1 64057 3.2 USF1 HES1 CTBP1 JUN MYC NCOR1 NFRKB RELA IRF1 CEBPG ATP13A4 OPA1-AS1 OPA1 piR-43106-152 LOC102724808
GH03J193554 Promoter/Enhancer 0.9 EPDnew Ensembl ENCODE 8.9 -38.3 -38255 1.4 FOXA1 ATP13A4-AS1 ATP13A4 OPA1 EEF1A1P23 lnc-ATP13A4-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OPA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OPA1

Top Transcription factor binding sites by QIAGEN in the OPA1 gene promoter:
  • NF-kappaB
  • p53

Genomic Locations for OPA1 Gene

Genomic Locations for OPA1 Gene
chr3:193,593,144-193,697,811
(GRCh38/hg38)
Size:
104,668 bases
Orientation:
Plus strand
chr3:193,310,933-193,415,612
(GRCh37/hg19)
Size:
104,680 bases
Orientation:
Plus strand

Genomic View for OPA1 Gene

Genes around OPA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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
    • E5KLJ5
    • E5KLJ6
    • E5KLJ7
    • E5KLK1
    • E5KLK2

    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 RCC1L; this interaction is direct (PubMed:28746876). Interacts with CHCHD3 and IMMT; these interactions occur preferentially with soluble OPA1 forms (PubMed:21081504). Binds PARL (By similarity). Interacts with PRELID1 (PubMed:21364629).
    Miscellaneous:
    • [Isoform 2]: Proteolytic processing near Gln-220 produces form S2 (PubMed:16778770).
    • [Isoform 4]: Contains the alternative exon 4b that is important for mitochondrial genome maintenance.
    • [Isoform 5]: Contains the alternative exon 4b that is important for mitochondrial genome maintenance.
    SequenceCaution:
    • Sequence=AF416919; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

    Alternative splice isoforms for OPA1 Gene

neXtProt entry for OPA1 Gene

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.
  • Cleavage at position S2 is mediated by YME1L (PubMed:17709429, PubMed:24616225, PubMed:27495975). Cleavage may occur in the sequence motif Leu-Gln-Gln-Gln-Ile-Gln (LQQQIQ) (PubMed:16778770). This motif is present in isoform 2, isoform 3, isoform 4 and isoform 7, but is absent in the displayed isoform 1 and in isoform 5.
  • Ubiquitination at Lys228
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OPA1 Gene

Domains & Families for OPA1 Gene

Gene Families for OPA1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for OPA1 Gene

Suggested Antigen Peptide Sequences for OPA1 Gene

GenScript: Design optimal peptide antigens:
  • Optic atrophy 1 (Autosomal dominant), isoform CRA_d (E5KLJ7_HUMAN)
  • Optic atrophy 1 (Autosomal dominant), isoform CRA_e (E5KLK0_HUMAN)
  • Optic atrophy 1 (Autosomal dominant), isoform CRA_b (E5KLK2_HUMAN)
  • Optic atrophy protein 1 (OPA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60313

UniProtKB/Swiss-Prot:

OPA1_HUMAN :
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
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

Function for OPA1 Gene

Molecular function for OPA1 Gene

UniProtKB/Swiss-Prot Function:
Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission (PubMed:16778770, PubMed:17709429, PubMed:20185555, PubMed:24616225, PubMed:28746876). Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion (PubMed:17709429). Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation (PubMed:20185555). The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes (PubMed:20185555). Plays a role in remodeling cristae and the release of cytochrome c during apoptosis (By similarity). 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 (By similarity). Plays a role in mitochondrial genome maintenance (PubMed:20974897, PubMed:18158317).
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.
UniProtKB/Swiss-Prot Function:
Isoforms that contain the alternative exon 4b (present in isoform 4 and isoform 5) are required for mitochondrial genome maintenance, possibly by anchoring the mitochondrial nucleoids to the inner mitochondrial membrane.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.5; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by guanine nucleotide exchange factor RCC1L.

Enzyme Numbers (IUBMB) for OPA1 Gene

Phenotypes From GWAS Catalog for OPA1 Gene

Gene Ontology (GO) - Molecular Function for OPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding NAS 11017080
GO:0003924 GTPase activity IBA,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

Human Phenotype Ontology for OPA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OPA1 Gene

MGI Knock Outs for OPA1:
  • Opa1 Opa1<tm1.2Hise>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for OPA1

No data available for 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. Mitochondrion membrane. Note=Detected at contact sites between endoplamic reticulum and mitochondrion membranes. {ECO:0000269 PubMed:24616225}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OPA1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 4
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IBA,IDA 17545159
GO:0005741 mitochondrial outer membrane IDA 12504110
genes like me logo Genes that share ontologies with OPA1: view

Pathways & Interactions for OPA1 Gene

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

Pathways by source for OPA1 Gene

3 Reactome pathways for OPA1 Gene
2 Cell Signaling Technology pathways for OPA1 Gene

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 IBA,TAS 12509422
GO:0006915 apoptotic process IEA --
GO:0007005 mitochondrion organization IMP,NAS 11017080
GO:0007007 inner mitochondrial membrane organization IDA 12509422
genes like me logo Genes that share ontologies with OPA1: view

No data available for SIGNOR curated interactions for OPA1 Gene

Drugs & Compounds for OPA1 Gene

(5) Drugs for OPA1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with OPA1: view

Transcripts for OPA1 Gene

mRNA/cDNA for OPA1 Gene

10 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
32 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for OPA1

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

Expression for OPA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for OPA1 Gene



Protein tissue co-expression partners for OPA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OPA1

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.

Evidence on tissue expression from TISSUES for OPA1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Heart(2.5)
  • Muscle(2.4)
  • Blood(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OPA1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns 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 31 30
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 99 (a)
OneToMany
LOC477129 30
  • 92.61 (n)
-- 31
  • 90 (a)
OneToMany
cow
(Bos Taurus)
Mammalia OPA1 31 30
  • 93.41 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 93 (a)
OneToMany
-- 31
  • 92 (a)
OneToMany
-- 31
  • 77 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia OPA1 31
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Opa1 17 31 30
  • 88.65 (n)
rat
(Rattus norvegicus)
Mammalia Opa1 30
  • 87.99 (n)
chicken
(Gallus gallus)
Aves OPA1 31 30
  • 78.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OPA1 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia opa1 30
  • 77.18 (n)
zebrafish
(Danio rerio)
Actinopterygii opa1 31 31 30
  • 71.83 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2951 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011286 30
  • 56.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta opa1-like 31 30
  • 55.2 (n)
OneToOne
CG8479 32
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea D2013.5 32
  • 56 (a)
eat-3 31 30
  • 55.96 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MGM1 31
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 60 (a)
OneToOne
Species where no ortholog for OPA1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for OPA1: view image

Paralogs for OPA1 Gene

Paralogs for OPA1 Gene

(2) SIMAP similar genes for OPA1 Gene using alignment to 14 proteins:

  • OPA1_HUMAN
  • A8MXB6_HUMAN
  • C9JMB8_HUMAN
  • C9JY58_HUMAN
  • E5KLJ5_HUMAN
  • E5KLJ6_HUMAN
  • E5KLJ7_HUMAN
  • E5KLJ9_HUMAN
  • E5KLK0_HUMAN
  • E5KLK1_HUMAN
  • E5KLK2_HUMAN
  • H7C141_HUMAN
  • H7C321_HUMAN
  • H7C3G2_HUMAN
genes like me logo Genes that share paralogs with OPA1: view

Variants for OPA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OPA1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
667770 Benign: not provided 193,617,463(+) G/T INTRON_VARIANT
667772 Benign: not provided 193,645,374(+) G/A INTRON_VARIANT
667773 Benign: not provided 193,618,636(+) T/C NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
667775 Benign: not provided 193,667,487(+) A/G INTRON_VARIANT
667792 Benign: not provided 193,659,248(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for OPA1 Gene

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

Variant ID Type Subtype PubMed ID
esv2449864 CNV insertion 19546169
esv2759212 CNV gain 17122850
esv3373845 CNV insertion 20981092
esv3569205 CNV loss 25503493
nsv10376 CNV loss 18304495

Variation tolerance for OPA1 Gene

Residual Variation Intolerance Score: 10.4% 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)

Additional Variant Information for OPA1 Gene

Human Gene Mutation Database (HGMD)
OPA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OPA1

SNP Genotyping and Copy Number Assay Products

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

Disorders for OPA1 Gene

MalaCards: The human disease database

(31) MalaCards diseases for OPA1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
  • dominant optic atrophy plus syndrome; doa+
optic atrophy 1
  • opa1
mitochondrial dna depletion syndrome 14
  • mtdps14
behr syndrome
  • behrs
glaucoma, normal tension
  • glaucoma, normal tension, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search OPA1 in MalaCards View complete list of genes associated with diseases

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:20185555, 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:20185555, ECO:0000269 PubMed:21112924, ECO:0000269 PubMed:23387428}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Behr syndrome (BEHRS) [MIM:210000]: An autosomal recessive syndrome characterized by optic atrophy beginning in early childhood associated with ataxia, pyramidal signs, spasticity, mental retardation, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade. {ECO:0000269 PubMed:21636302, ECO:0000269 PubMed:25012220, ECO:0000269 PubMed:25146916}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14) [MIM:616896]: An autosomal recessive mitochondrial disorder characterized by lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. Skeletal muscle biopsies show significant mtDNA depletion and abnormal mitochondria. {ECO:0000269 PubMed:26561570}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for OPA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for OPA1 Gene

Publications for OPA1 Gene

  1. OPA1 increases the risk of normal but not high tension glaucoma. (PMID: 19581274) Yu-Wai-Man P … Chinnery PF (Journal of medical genetics 2010) 3 23 41 54
  2. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. (PMID: 19754948) Wolf C … Weisschuh N (BMC medical genetics 2009) 3 23 41 54
  3. Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. (PMID: 19325939) Nochez Y … Reynier P (Molecular vision 2009) 3 4 23 54
  4. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. (PMID: 19319978) Ferré M … Amati-Bonneau P (Human mutation 2009) 3 4 41 54
  5. OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background. (PMID: 19619285) Pierron D … Letellier T (BMC medical genetics 2009) 3 23 41 54

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