OPA1 mitochondrial dynamin like GTPase

Summary
Gene Symbol
  • OPA1
Aliases
  • Dynamin-like 120 kDa protein, mitochondrial
  • FLJ12460
  • KIAA0567
  • MGM1
  • NPG
  • NTG
  • dynamin-like guanosine triphosphatase
  • mitochondrial dynamin-like GTPase
Organism
Homo sapiens (human)
NCBI Gene
4976
HGNC
8140
PubChem
4976
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Apoptosis
  • Cardiomyopathy
  • Coiled coil
  • Deafness
  • Disease variant
  • Disulfide bond
  • GTP-binding
  • Hydrolase
  • Lipid-binding
  • Mitochondrion inner membrane
  • Neurodegeneration
  • Primary mitochondrial disease
  • Proteomics identification
  • Reference proteome
  • Transit peptide
  • Transmembrane helix
  • Vision
Proteins
Displaying all 3 entries
UniProt Protein Name
O60313
  • Optic atrophy protein 1
E5KLJ9
E5KLK0
Gene Ontology (GO)
GO Hierarchy
Displaying entries 1 - 5 of 19 in total
GO Term Evidence Code PMID
nucleoplasm
cytoplasm
mitochondrion
mitochondrion
mitochondrial outer membrane
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
dynamin
Functional Category
  • G: Carbohydrate transport and metabolism
  • J: Translation, ribosomal structure and biogenesis
  • L: Replication, recombination and repair
Human Protein Atlas
ENSG00000198836

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying all 5 entries
DO ID Disease Name Source
DOID:0080336 mitochondrial DNA depletion syndrome 14
DOID:0111340 dominant optic atrophy plus syndrome
DOID:0111441 optic atrophy 1
DOID:0111580 Behr syndrome
DOID:5723 optic atrophy
The Human Phenotype Ontology
Displaying entries 1 - 10 of 114 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000135 Hypogonadism
HP:0000407 Sensorineural hearing impairment
HP:0000408 Progressive sensorineural hearing impairment
HP:0000486 Strabismus
HP:0000505 Visual impairment
HP:0000508 Ptosis
HP:0000518 Cataract
HP:0000529 Progressive visual loss
Displaying all 6 entries
Disease ID Disease Name
OMIM:616896
  • mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
ORPHA:1215
  • autosomal dominant optic atrophy plus syndrome
ORPHA:98673
  • autosomal dominant optic atrophy, classic form
OMIM:125250
  • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
OMIM:165500
  • autosomal dominant optic atrophy, classic form
OMIM:210000
  • Behr syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025