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Opa1 Gene Detail
Summary
  • Symbol
    Opa1
  • Name
    optic atrophy 1
  • Synonyms
    1200011N24Rik, lilr3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921393
    NCBI Gene: 74143
  • Gene Overview
    MyGene.info: OPA1
Location & Maps
more
  • Sequence Map
    Chr16:29579334-29654884 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      75551 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 20.65 cM, cytoband B2
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    OPA1, OPA1, mitochondrial dynamin like GTPase
  • Vertebrate Orthologs
    11
  • Human Ortholog
    OPA1, OPA1, mitochondrial dynamin like GTPase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BERHS, largeG, MGM1, MTDPS14, NPG, NTG
  • Links
    NCBI Gene ID: 4976
    neXtProt AC: NX_O60313

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

  • HomoloGene
    Vertebrate Homology Class 14618
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: OPA1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Opa1 mouse models; 5 with human OPA1 associations

Human Disease Mouse Models
       Optic Atrophy 1; OPA1   OMIM: 165500 View 2 models
       Behr Syndrome; BEHRS   OMIM: 210000
Glaucoma, Normal Tension, Susceptibility to   OMIM: 606657
Mitochondrial DNA Depletion Syndrome 14 (cardioencephalomyopathic Type); MTDPS14   OMIM: 616896
Optic Atrophy with or without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy   OMIM: 125250
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    50 phenotypes from 6 alleles in 8 genetic backgrounds
    1 images
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Chemically induced (ENU)
    3
  • Gene trapped
    5
  • Targeted
    5
  • Incidental Mutations
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 responseto a new environment and decreased vision.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    632 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000011644 dynamin-like 120 kDa protein, mitochondrial
  • EC
  • InterPro Domains
    IPR001401 Dynamin, GTPase domain
    IPR033047 Dynamin-like 120 kDa protein, mitochondrial
    IPR022812 Dynamin superfamily
    IPR030381 Dynamin-type guanine nucleotide-binding (G) domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
less
  • All nucleic 19
    cDNA 18
    Primer pair 1

    Microarray probesets 7
Other
Accession IDs
less
MGI:2146390, MGI:2146496, MGI:3578172
References
more
  • Summaries
    All 88
    Developmental Gene Expression 5
    Diseases 4
    Gene Ontology 16
    Phenotypes 24
  • 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:230952 Gonzalez-Menendez I, et al., Influence of Opa1 Mutation on Survival and Function of Retinal Ganglion Cells. Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4835-45

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory