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Opa1
Gene Detail
Symbol

Name
ID
Opa1
optic atrophy 1
MGI:1921393
Synonyms
1200011N24Rik, lilr3
Feature Type
protein coding gene
Genetic Map
Chromosome 16
20.65 cM, cytoband B2
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr16:29579334-29654884 bp, + strand
From VEGA annotation of GRCm38

  75551 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:14618  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: OPA1
Gene Tree: Opa1

Human
homologs
OPA1, optic atrophy 1 (autosomal dominant)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 4976
neXtProt AC: NX_O60313

Human Synonyms: largeG, MGM1, NPG, NTG

Human Chr (Location): 3q29; chr3:193593144-193697811 (+)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human OPA1

Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Chemically induced (ENU)(3) Gene trapped(5) Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for an ENU mutation exhibit embryonic lethality, embryonic growth retardation and morphological abnormalities. Mice heterozygous for an ENU mutation exhibit abnormal cellular morphology, altered optic nerve myelination, abnormal response to a new environment and decreased vision.
 
Human Diseases Modeled in Mice Using Opa1 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(1)
Interactions
Opa1 interacts with 408 markers (Mir7-1, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (41 annotations)
Process apoptotic process, cellular senescence, ...
Component cytoplasm, dendrite, ...
Function GTPase activity, GTP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (63)    Tissues (31)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 63
cDNA source data(18)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase opa1    NEW 
Molecular
reagents
All nucleic(19) cDNA(18) Primer pair(1)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000031484 (Evidence)
Ensembl Gene Model ENSMUSG00000038084 (Evidence)
Entrez Gene 74143 (Evidence)
DFCI TC1575641, TC1588083, TC1602948, TC1613699, TC1623286, TC1636135, TC1638738
DoTS DT.101259437, DT.532818, DT.55152334, DT.91328301, DT.94317070, DT.94366506, DT.97414679
NIA Mouse Gene Index U043512
EC 3.6.5.5
Consensus CDS Project CCDS28096.1, CCDS57024.1
International Mouse Phenotyping Consortium Status Opa1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031484 VEGA Gene Model | MGI Sequence Detail 75551 C57BL/6J ±  kb
transcript OTTMUST00000081593 VEGA | MGI Sequence Detail 3153 Not Applicable 
polypeptide OTTMUSP00000043672 VEGA | MGI Sequence Detail 997 Not Applicable 

For the selected sequences
All sequences(88) RefSeq(15) UniProt(5)
Polymorphisms
SNPs within 2kb(597 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001401 Dynamin, GTPase domain
InterPro IPR022812 Dynamin superfamily
InterPro IPR030381 Dynamin-type guanine nucleotide-binding (G) domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000011644 dynamin-like 120 kDa protein, mitochondrial
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:213150 Mishra P, et al., Proteolytic cleavage of Opa1 stimulates mitochondrial inner membrane fusion and couples fusion to oxidative phosphorylation. Cell Metab. 2014 Apr 1;19(4):630-41
All references(84)
Disease annotation references (4)
Other
accession IDs
MGI:2146390, MGI:2146496, MGI:3578172

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory