• Gene id: 4976

Gene Summary

• Gene Symbol: OPA1   Gene   UCSC   Ensembl
• Aliases: BERHS, MGM1, MTDPS14, NPG, NTG, largeG
• Gene name: OPA1 mitochondrial dynamin like GTPase
• Alternate names: dynamin-like 120 kDa protein, mitochondrial, dynamin-like guanosine triphosphatase, mitochondrial dynamin-like GTPase, optic atrophy 1 (autosomal dominant), optic atrophy protein 1,
• Gene location: 3q29 (193593143: 193697810)     Exons: 32     NC_000003.12
• Gene summary(Entrez): 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 pr
• OMIM: 605290

Protein Summary

• Protein general information: O60313  
  • Name: Dynamin like 120 kDa protein, mitochondrial (EC 3.6.5.5) (Optic atrophy protein 1) [Cleaved into: Dynamin like 120 kDa protein, form S1]
  • Length: 960  
  • Mass: 111631
  • 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,
• Sequence:

  MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKF
  SPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFE
  KIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHT
  QLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAG
  KTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGC
  TVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTD
  LVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQN
  SKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNE
  ILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWE
  TLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEE
  ALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRG
  VEVDPSLIKDTWHQVYRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTN
  TEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK

• Structural information:
  • Protein Domains: (285..56-)
    (/note="Dynamin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01055"-)
  • Interpro: IPR001401  IPR022812  IPR030381  IPR033047  IPR027417  
  • Prosite: PS51718
  • CDD: cd08771
  • STRING: ENSP00000354681
• Other Databases: GeneCards:  OPA1  Malacards:  OPA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IGI	biological process
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0000266	mitochondrial fission	IBA	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0008017	microtubule binding	IBA	molecular function
GO:0015630	microtubule cytoskeleton	IBA	cellular component
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0061025	membrane fusion	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0031966	mitochondrial membrane	IBA	cellular component
GO:0048285	organelle fission	IBA	biological process
GO:0051259	protein complex oligomerization	IDA	biological process
GO:0097749	membrane tubulation	IDA	biological process
GO:1901612	cardiolipin binding	IDA	molecular function
GO:0003924	GTPase activity	IDA	molecular function
GO:0003924	GTPase activity	IDA	molecular function
GO:0046039	GTP metabolic process	IDA	biological process
GO:0070300	phosphatidic acid binding	IDA	molecular function
GO:0000002	mitochondrial genome maintenance	IMP	biological process
GO:0008053	mitochondrial fusion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007005	mitochondrion organization	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007005	mitochondrion organization	IMP	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905232	cellular response to L-glutamate	IEA	biological process
GO:1904643	response to curcumin	IEA	biological process
GO:1900006	positive regulation of dendrite development	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0070584	mitochondrion morphogenesis	IEA	biological process
GO:0061003	positive regulation of dendritic spine morphogenesis	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0014850	response to muscle activity	IEA	biological process
GO:0014042	positive regulation of neuron maturation	IEA	biological process
GO:0010636	positive regulation of mitochondrial fusion	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:1900078	positive regulation of cellular response to insulin stimulus	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0048312	intracellular distribution of mitochondria	IEA	biological process
GO:0046628	positive regulation of insulin receptor signaling pathway	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0036444	calcium import into the mitochondrion	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0031314	extrinsic component of mitochondrial inner membrane	IEA	cellular component
GO:0019900	kinase binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	NAS	cellular component
GO:0008053	mitochondrial fusion	IMP	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0090398	cellular senescence	IDA	biological process
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0007007	inner mitochondrial membrane organization	IDA	biological process
GO:0030061	mitochondrial crista	IDA	cellular component
GO:0008053	mitochondrial fusion	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0090201	negative regulation of release of cytochrome c from mitochondria	IMP	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0007601	visual perception	IMP	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0019896	axonal transport of mitochondrion	TAS	biological process
GO:0005758	mitochondrial intermembrane space	ISS	cellular component
GO:0007005	mitochondrion organization	NAS	biological process
GO:0000287	magnesium ion binding	NAS	molecular function
GO:0000266	mitochondrial fission	TAS	biological process
GO:0008053	mitochondrial fusion	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Mitochondrial DNA depletion syndrome	KEGG:H00469
Optic atrophy	KEGG:H01020
Mitochondrial DNA depletion syndrome	KEGG:H00469
Optic atrophy	KEGG:H01020
Optic atrophy	PMID:16617242
Alzheimer's disease	PMID:19605646
primary open angle glaucoma	PMID:21552501
Schizophrenia	PMID:21397211
Optic atrophy	PMID:16735988
congestive heart failure	PMID:19493956
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)