Opa1 OPA1, mitochondrial dynamin like GTPase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Opa1provided by MGI
Official Full Name: OPA1, mitochondrial dynamin like GTPaseprovided by MGI
Primary source: MGI:MGI:1921393
See related: Ensembl:ENSMUSG00000038084 AllianceGenome:MGI:1921393
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: lilr3; mKIAA0567; 1200011N24Rik
Summary: Predicted to enable several functions, including GTPase activity; anion binding activity; and microtubule binding activity. Involved in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway and negative regulation of release of cytochrome c from mitochondria. Acts upstream of or within mitochondrial fusion and neural tube closure. Located in dendrite; mitochondrial inner membrane; and mitochondrial intermembrane space. Is expressed in several structures, including heart; liver; lung; skin; and visual system. Used to study optic atrophy. Human ortholog(s) of this gene implicated in Behr syndrome; dominant optic atrophy plus syndrome; mitochondrial DNA depletion syndrome 14; optic atrophy; and optic atrophy 1. Orthologous to human OPA1 (OPA1 mitochondrial dynamin like GTPase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in cerebellum adult (RPKM 11.0), CNS E18 (RPKM 10.5) and 28 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 16 B2; 16 20.65 cM

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (29398099..29481924)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (29579281..29663127)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The human OPA1[delTTAG] mutation induces adult onset and progressive auditory neuropathy in mice.
Title: The human OPA1(delTTAG) mutation induces adult onset and progressive auditory neuropathy in mice.
GDF15 is required for cold-induced thermogenesis and contributes to improved systemic metabolic health following loss of OPA1 in brown adipocytes.
Title: GDF15 is required for cold-induced thermogenesis and contributes to improved systemic metabolic health following loss of OPA1 in brown adipocytes.
[Long noncoding RNA H19 promotes vascular calcification by repressing the Bax inhibitor 1/optic atrophy 1 pathway].
Title: [Long noncoding RNA H19 promotes vascular calcification by repressing the Bax inhibitor 1/optic atrophy 1 pathway].
Loss of UCP2 causes mitochondrial fragmentation by OMA1-dependent proteolytic processing of OPA1 in podocytes.
Title: Loss of UCP2 causes mitochondrial fragmentation by OMA1-dependent proteolytic processing of OPA1 in podocytes.
The mitochondrial fusion protein OPA1 is dispensable in the liver and its absence induces mitohormesis to protect liver from drug-induced injury.
Title: The mitochondrial fusion protein OPA1 is dispensable in the liver and its absence induces mitohormesis to protect liver from drug-induced injury.
Attenuation of PM2.5-induced alveolar epithelial cells and lung injury through regulation of mitochondrial fission and fusion.
Title: Attenuation of PM(2.5)-induced alveolar epithelial cells and lung injury through regulation of mitochondrial fission and fusion.
SMYD1a protects the heart from ischemic injury by regulating OPA1-mediated cristae remodeling and supercomplex formation.
Title: SMYD1a protects the heart from ischemic injury by regulating OPA1-mediated cristae remodeling and supercomplex formation.
BNP protects against diabetic cardiomyopathy by promoting Opa1-mediated mitochondrial fusion via activating the PKG-STAT3 pathway.
Title: BNP protects against diabetic cardiomyopathy by promoting Opa1-mediated mitochondrial fusion via activating the PKG-STAT3 pathway.
OPA1 Regulates Lipid Metabolism and Cold-Induced Browning of White Adipose Tissue in Mice.
Title: OPA1 Regulates Lipid Metabolism and Cold-Induced Browning of White Adipose Tissue in Mice.
L-OPA1 deficiency aggravates necroptosis of alveolar epithelial cells through impairing mitochondrial function during acute lung injury in mice.
Title: L-OPA1 deficiency aggravates necroptosis of alveolar epithelial cells through impairing mitochondrial function during acute lung injury in mice.

Submit: New GeneRIF Correction See all GeneRIFs (89)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (5)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH135994 (e-PCR)
- UniSTS:209990

AI847218 (e-PCR)
- UniSTS:165989

RH136067 (e-PCR)
- UniSTS:210062

Opa1 (e-PCR), detects polymorphism
- UniSTS:265465

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	ISO Inferred from Sequence Orthology more info
enables GTPase activity	TAS Traceable Author Statement more info	PubMed
enables cardiolipin binding	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables kinase binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables phosphatidic acid binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in GTP metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in calcium import into the mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in cellular senescence	ISO Inferred from Sequence Orthology more info
involved_in inner mitochondrial membrane organization	ISO Inferred from Sequence Orthology more info
involved_in intracellular distribution of mitochondria	ISO Inferred from Sequence Orthology more info
involved_in membrane tubulation	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial fusion	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial genome maintenance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitochondrion organization	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion organization	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion organization	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of release of cytochrome c from mitochondria	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of release of cytochrome c from mitochondria	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cellular response to insulin stimulus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendrite development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendritic spine morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of insulin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitochondrial fusion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron maturation	ISO Inferred from Sequence Orthology more info
involved_in protein complex oligomerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
involved_in visual perception	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial crista	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrial intermembrane space	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrial membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: dynamin-like 120 kDa protein, mitochondrial

Names: large GTP-binding protein; largeG; optic atrophy 1 homolog; optic atrophy protein 1 homolog

NP_001186106.1

EC 3.6.5.5

NP_001390099.1

EC 3.6.5.5

NP_001390100.1

EC 3.6.5.5

NP_001390101.1

EC 3.6.5.5

NP_001390111.1

EC 3.6.5.5

NP_598513.1

EC 3.6.5.5

XP_006522718.2

EC 3.6.5.5

XP_006522719.2

EC 3.6.5.5

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001199177.2 → NP_001186106.1 dynamin-like 120 kDa protein, mitochondrial isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC154438

Consensus CDS

CCDS57024.1

UniProtKB/TrEMBL

H7BX01, Q80TX7

Related

ENSMUSP00000036993.7, ENSMUST00000038867.13

Conserved Domains (1) summary

cd08771
Location:305 → 579

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
NM_001403170.1 → NP_001390099.1 dynamin-like 120 kDa protein, mitochondrial isoform 3

Status: VALIDATED

Source sequence(s)

AC154438
NM_001403171.1 → NP_001390100.1 dynamin-like 120 kDa protein, mitochondrial isoform 4

Status: VALIDATED

Source sequence(s)

AC154438

Related

ENSMUSP00000123880.2, ENSMUST00000161186.8
NM_001403172.1 → NP_001390101.1 dynamin-like 120 kDa protein, mitochondrial isoform 4

Status: VALIDATED

Source sequence(s)

AC154438
NM_001403182.1 → NP_001390111.1 dynamin-like 120 kDa protein, mitochondrial isoform 2

Status: VALIDATED

Source sequence(s)

AC154438

UniProtKB/Swiss-Prot

A6H6Q3, P58281, Q3ULA5, Q8BKU7, Q8BLL3, Q8BM08, Q8R3J7
NM_133752.4 → NP_598513.1 dynamin-like 120 kDa protein, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_598513.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter, compared to isoform 1.

Source sequence(s)

AC154438

Consensus CDS

CCDS28096.1

UniProtKB/Swiss-Prot

A6H6Q3, P58281, Q3ULA5, Q8BKU7, Q8BLL3, Q8BM08, Q8R3J7

UniProtKB/TrEMBL

Q80TX7

Related

ENSMUSP00000124223.2, ENSMUST00000160597.8

Conserved Domains (1) summary

cd08771
Location:287 → 561

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

RNA

NR_175360.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC154438

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

29398099..29481924

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006522656.5 → XP_006522719.2 dynamin-like 120 kDa protein, mitochondrial isoform X1

UniProtKB/TrEMBL

Q80TX7

Conserved Domains (1) summary

cd08771
Location:427 → 701

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
XM_006522655.3 → XP_006522718.2 dynamin-like 120 kDa protein, mitochondrial isoform X1

UniProtKB/TrEMBL

Q80TX7

Conserved Domains (1) summary

cd08771
Location:427 → 701

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins