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OPA1 OPA1, mitochondrial dynamin like GTPase [ Homo sapiens (human) ]

Gene ID: 4976, updated on 7-Oct-2018

Summary

Official Symbol
OPA1provided by HGNC
Official Full Name
OPA1, mitochondrial dynamin like GTPaseprovided by HGNC
Primary source
HGNC:HGNC:8140
See related
Ensembl:ENSG00000198836 MIM:605290; Vega:OTTHUMG00000149897
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPG; NTG; MGM1; BERHS; largeG; MTDPS14
Summary
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 protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]
Expression
Ubiquitous expression in brain (RPKM 20.5), heart (RPKM 17.2) and 25 other tissues See more
Orthologs

Genomic context

See OPA1 in Genome Data Viewer
Location:
3q29
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (193593144..193697811)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (193310933..193415600)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATPase 13A4 Neighboring gene ATP13A4 antisense RNA 1 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 23 Neighboring gene OPA1 antisense RNA 1 Neighboring gene uncharacterized LOC102724808 Neighboring gene RNA, 7SL, cytoplasmic 447, pseudogene Neighboring gene uncharacterized LOC105374282 Neighboring gene VISTA enhancer hs1563

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of optic atrophy 1 (OPA1, dynamin-like 120 kDa protein, mitochondrial) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Apoptosis, organism-specific biosystem (from REACTOME)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
  • Regulation of Apoptosis, organism-specific biosystem (from REACTOME)
    Regulation of Apoptosis, organism-specific biosystemA regulated balance between cell survival and apoptosis is essential for normal development and homeostasis of multicellular organisms (see Matsuzawa, 2001). Defects in control of this balance may...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12460, KIAA0567

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity TAS
Traceable Author Statement
more info
PubMed 
cardiolipin binding IDA
Inferred from Direct Assay
more info
PubMed 
kinase binding IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding NAS
Non-traceable Author Statement
more info
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
GTP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
axonal transport of mitochondrion TAS
Traceable Author Statement
more info
PubMed 
calcium import into the mitochondrion IEA
Inferred from Electronic Annotation
more info
 
cellular response to L-glutamate IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
cellular senescence IDA
Inferred from Direct Assay
more info
PubMed 
cochlea development IEA
Inferred from Electronic Annotation
more info
 
dynamin family protein polymerization involved in mitochondrial fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inner mitochondrial membrane organization IDA
Inferred from Direct Assay
more info
PubMed 
intracellular distribution of mitochondria IEA
Inferred from Electronic Annotation
more info
 
membrane fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane tubulation IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial fission TAS
Traceable Author Statement
more info
PubMed 
mitochondrial fusion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial fusion TAS
Traceable Author Statement
more info
PubMed 
mitochondrial genome maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion morphogenesis IEA
Inferred from Electronic Annotation
more info
 
mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion organization NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of dendritic spine morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitochondrial fusion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron maturation IEA
Inferred from Electronic Annotation
more info
 
protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
response to curcumin IEA
Inferred from Electronic Annotation
more info
 
response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to muscle activity IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
extrinsic component of mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial crista IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial intermembrane space ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
dynamin-like 120 kDa protein, mitochondrial
Names
dynamin-like guanosine triphosphatase
mitochondrial dynamin-like GTPase
optic atrophy 1 (autosomal dominant)
optic atrophy protein 1
NP_001341592.1
NP_001341593.1
NP_056375.2
NP_570844.1
NP_570845.1
NP_570846.1
NP_570847.2
NP_570848.1
NP_570849.2
NP_570850.2

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_011605.1 RefSeqGene

    Range
    5001..109668
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_337

mRNA and Protein(s)

  1. NM_001354663.1NP_001341592.1  dynamin-like 120 kDa protein, mitochondrial isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC048351, AC106710
    Conserved Domains (1) summary
    cd08771
    Location:164438
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  2. NM_001354664.1NP_001341593.1  dynamin-like 120 kDa protein, mitochondrial isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC048351, AC106710
    Related
    ENSP00000493673.1, ENST00000643329.1
    Conserved Domains (1) summary
    cd08771
    Location:163437
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  3. NM_015560.2NP_056375.2  dynamin-like 120 kDa protein, mitochondrial isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_056375.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the original transcript identified. It contains 29 exons and encodes an isoform (1) of 960 aa.
    Source sequence(s)
    AC106710, BC043443, BC075805, BQ774938, CN314824, DA993450
    Consensus CDS
    CCDS43186.1
    UniProtKB/Swiss-Prot
    O60313
    Related
    ENSP00000354429.3, OTTHUMP00000195065, ENST00000361828.7, OTTHUMT00000313812
    Conserved Domains (1) summary
    cd08771
    Location:287561
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  4. NM_130831.2NP_570844.1  dynamin-like 120 kDa protein, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_570844.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing exon 4, compared to transcript variant 1. It however, maintains the same reading frame and encodes an isoform (2) of 924 aa. This variant is based on an alternate splice pattern characterized by Delettre et al (2001, PMID: 11810270), but the complete 5' to 3' exon combination is inferred and not supported at the time of review by a single long cDNA.
    Source sequence(s)
    AC048351, AC106710, BQ774938
    Consensus CDS
    CCDS87183.1
    UniProtKB/Swiss-Prot
    O60313
    Related
    ENSP00000494512.1, ENST00000646793.1
    Conserved Domains (1) summary
    cd08771
    Location:251525
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  5. NM_130832.2NP_570845.1  dynamin-like 120 kDa protein, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_570845.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is missing exon 4, but contains exon 4b, compared to transcript variant 1. It however, maintains the same reading frame and encodes an isoform (3) of 942 aa. This variant is based on an alternate splice pattern characterized by Delettre et al (2001, PMID: 11810270), but the complete 5' to 3' exon combination is inferred and not supported at the time of review by a single long cDNA.
    Source sequence(s)
    AC048351, AC106710, BQ774938
    UniProtKB/TrEMBL
    E5KLK0
    Conserved Domains (1) summary
    cd08771
    Location:269543
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  6. NM_130833.2NP_570846.1  dynamin-like 120 kDa protein, mitochondrial isoform 4

    See identical proteins and their annotated locations for NP_570846.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) is missing exon 4, but contains exon 5b, compared to transcript variant 1. It however, maintains the same reading frame and encodes an isoform (4) of 961 aa. This variant is based on an alternate splice pattern characterized by Delettre et al (2001, PMID: 11810270), but the complete 5' to 3' exon combination is inferred and not supported at the time of review by a single long cDNA.
    Source sequence(s)
    AC048351, AC106710, BQ774938
    UniProtKB/Swiss-Prot
    O60313
    Related
    ENSP00000354781.2, ENST00000361150.6
    Conserved Domains (1) summary
    cd08771
    Location:288562
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  7. NM_130834.2NP_570847.2  dynamin-like 120 kDa protein, mitochondrial isoform 5 preproprotein

    See identical proteins and their annotated locations for NP_570847.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an additional exon 4b, compared to transcript variant 1. It however, maintains the same reading frame and encodes an isoform (5) of 978 aa. This variant is based on an alternate splice pattern characterized by Delettre et al (2001, PMID: 11810270), but the complete 5' to 3' exon combination is inferred and not supported at the time of review by a single long cDNA.
    Source sequence(s)
    AC048351, AC106710, BQ774938
    UniProtKB/Swiss-Prot
    O60313
    Related
    ENSP00000376232.2, ENST00000392437.6
    Conserved Domains (1) summary
    cd08771
    Location:305579
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  8. NM_130835.2NP_570848.1  dynamin-like 120 kDa protein, mitochondrial isoform 6

    See identical proteins and their annotated locations for NP_570848.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) is missing exon 4, but contains exons 4b and 5b, compared to transcript variant 1. It however, maintains the same reading frame and encodes an isoform (6) of 979 aa. This variant is based on an alternate splice pattern characterized by Delettre et al (2001, PMID: 11810270), but the complete 5' to 3' exon combination is inferred and not supported at the time of review by a single long cDNA.
    Source sequence(s)
    AC048351, AC106710, BQ774938
    UniProtKB/TrEMBL
    E5KLJ9
    Related
    ENSP00000355311.2, ENST00000361715.6
    Conserved Domains (1) summary
    cd08771
    Location:306580
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  9. NM_130836.2NP_570849.2  dynamin-like 120 kDa protein, mitochondrial isoform 7

    See identical proteins and their annotated locations for NP_570849.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an additional exon 5b, compared to transcript variant 1. It however, maintains the same reading frame and encodes an isoform (7) of 997 aa.
    Source sequence(s)
    AC048351, AC106710, BQ774938
    Consensus CDS
    CCDS33917.1
    UniProtKB/Swiss-Prot
    O60313
    Related
    ENSP00000354681.3, OTTHUMP00000195064, ENST00000361908.8, OTTHUMT00000313811
    Conserved Domains (1) summary
    cd08771
    Location:324598
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  10. NM_130837.2NP_570850.2  dynamin-like 120 kDa protein, mitochondrial isoform 8

    See identical proteins and their annotated locations for NP_570850.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) contains 2 additional exons, 4b and 5b, compared to transcript variant 1. It however, maintains the same reading frame and encodes an isoform (8) of 1015 aa. This variant is based on an alternate splice pattern characterized by Delettre et al (2001, PMID: 11810270), but the complete 5' to 3' exon combination is inferred and not supported at the time of review by a single long cDNA.
    Source sequence(s)
    AC048351, AC106710, BQ774938
    UniProtKB/Swiss-Prot
    O60313
    Related
    ENSP00000355324.2, ENST00000361510.7
    Conserved Domains (1) summary
    cd08771
    Location:342616
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    193593144..193697811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001740158.2 RNA Sequence

    Related
    ENST00000646277.1
  2. XR_001740159.2 RNA Sequence

    Related
    ENST00000644841.1
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