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

Gene ID: 4976, updated on 3-May-2024

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; AllianceGenome:HGNC:8140
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
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Genomic context

Location:
3q29
Exon count:
34
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (193593208..193697811)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (196288807..196394453)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (193310997..193415600)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATPase 13A4 Neighboring gene ATP13A4 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:193310659-193311310 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:193311311-193311962 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 23 Neighboring gene OPA1 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:193364377-193365576 Neighboring gene uncharacterized LOC102724808 Neighboring gene MPRA-validated peak4976 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:193427999-193428934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:193428935-193429869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21007 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ12460, KIAA0567

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables GTPase activity TAS
Traceable Author Statement
more info
PubMed 
enables GTPase-dependent fusogenic activity IDA
Inferred from Direct Assay
more info
PubMed 
enables cardiolipin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables magnesium ion binding NAS
Non-traceable Author Statement
more info
PubMed 
enables membrane bending activity IDA
Inferred from Direct Assay
more info
PubMed 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphatidic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in GTP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in axonal transport of mitochondrion TAS
Traceable Author Statement
more info
PubMed 
involved_in cellular senescence IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cristae formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inner mitochondrial membrane organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane fusion IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane tubulation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mitochondrial fission TAS
Traceable Author Statement
more info
PubMed 
involved_in mitochondrial fusion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mitochondrial fusion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mitochondrial fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitochondrial fusion TAS
Traceable Author Statement
more info
PubMed 
involved_in mitochondrial genome maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitochondrial inner membrane fusion IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitochondrion organization NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neural tube closure IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of T-helper 17 cell lineage commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of interleukin-17 production ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in membrane HDA PubMed 
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrial crista IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
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 ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
is_active_in mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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
XP_047304162.1
XP_047304163.1
XP_047304164.1
XP_047304165.1
XP_047304166.1
XP_047304167.1
XP_047304168.1
XP_047304169.1
XP_047304170.1
XP_047304172.1
XP_054202630.1
XP_054202631.1
XP_054202632.1
XP_054202633.1
XP_054202634.1
XP_054202635.1
XP_054202636.1
XP_054202637.1
XP_054202638.1
XP_054202639.1
XP_054202640.1
XP_054202641.1
XP_054202642.1
XP_054202643.1

NCBI Reference Sequences (RefSeq)

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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_001354663.2NP_001341592.1  dynamin-like 120 kDa protein, mitochondrial isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC048351, AC106710
    UniProtKB/TrEMBL
    A0A2R8Y3X5
    Conserved Domains (1) summary
    cd08771
    Location:164438
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  2. NM_001354664.2NP_001341593.1  dynamin-like 120 kDa protein, mitochondrial isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC048351, AC106710
    UniProtKB/TrEMBL
    A0A2R8Y3X5
    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_015560.3NP_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)
    AC048351, AC106710
    Consensus CDS
    CCDS43186.1
    UniProtKB/Swiss-Prot
    D3DNW4, E5KLJ5, E5KLJ6, E5KLJ7, E5KLK1, E5KLK2, O60313
    UniProtKB/TrEMBL
    E5KLM2
    Related
    ENSP00000354429.3, ENST00000361828.7
    Conserved Domains (1) summary
    cd08771
    Location:287561
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  4. NM_130831.3NP_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/TrEMBL
    E5KLM2
    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_130832.3NP_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, E5KLM2
    Conserved Domains (1) summary
    cd08771
    Location:269543
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  6. NM_130833.3NP_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
    UniProtKB/TrEMBL
    E5KLM1
    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_130834.3NP_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/TrEMBL
    E5KLM0
    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_130835.3NP_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
    UniProtKB/TrEMBL
    E5KLJ9, E5KLM1
    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_130836.3NP_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/TrEMBL
    E5KLM1
    Related
    ENSP00000354681.3, ENST00000361908.8
    Conserved Domains (1) summary
    cd08771
    Location:324598
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
  10. NM_130837.3NP_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
    UniProtKB/TrEMBL
    E5KLL9
    Related
    ENSP00000355324.2, ENST00000361510.8
    Conserved Domains (1) summary
    cd08771
    Location:342616
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    193593208..193697811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448212.1XP_047304168.1  dynamin-like 120 kDa protein, mitochondrial isoform X7

  2. XM_047448206.1XP_047304162.1  dynamin-like 120 kDa protein, mitochondrial isoform X1

  3. XM_047448208.1XP_047304164.1  dynamin-like 120 kDa protein, mitochondrial isoform X3

  4. XM_047448207.1XP_047304163.1  dynamin-like 120 kDa protein, mitochondrial isoform X2

  5. XM_047448210.1XP_047304166.1  dynamin-like 120 kDa protein, mitochondrial isoform X5

    Related
    ENSP00000376231.3, ENST00000392436.7
  6. XM_047448209.1XP_047304165.1  dynamin-like 120 kDa protein, mitochondrial isoform X4

  7. XM_047448211.1XP_047304167.1  dynamin-like 120 kDa protein, mitochondrial isoform X6

  8. XM_047448213.1XP_047304169.1  dynamin-like 120 kDa protein, mitochondrial isoform X8

    Related
    ENSP00000495943.1, ENST00000644959.1
  9. XM_047448214.1XP_047304170.1  dynamin-like 120 kDa protein, mitochondrial isoform X9

  10. XM_047448216.1XP_047304172.1  dynamin-like 120 kDa protein, mitochondrial isoform X10

    Related
    ENSP00000495028.1, ENST00000646544.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    196288807..196394453
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346660.1XP_054202635.1  dynamin-like 120 kDa protein, mitochondrial isoform X4

  2. XM_054346655.1XP_054202630.1  dynamin-like 120 kDa protein, mitochondrial isoform X1

  3. XM_054346666.1XP_054202641.1  dynamin-like 120 kDa protein, mitochondrial isoform X7

  4. XM_054346658.1XP_054202633.1  dynamin-like 120 kDa protein, mitochondrial isoform X3

  5. XM_054346664.1XP_054202639.1  dynamin-like 120 kDa protein, mitochondrial isoform X6

  6. XM_054346656.1XP_054202631.1  dynamin-like 120 kDa protein, mitochondrial isoform X2

  7. XM_054346661.1XP_054202636.1  dynamin-like 120 kDa protein, mitochondrial isoform X5

  8. XM_054346657.1XP_054202632.1  dynamin-like 120 kDa protein, mitochondrial isoform X11

  9. XM_054346662.1XP_054202637.1  dynamin-like 120 kDa protein, mitochondrial isoform X13

  10. XM_054346659.1XP_054202634.1  dynamin-like 120 kDa protein, mitochondrial isoform X12

  11. XM_054346663.1XP_054202638.1  dynamin-like 120 kDa protein, mitochondrial isoform X14

  12. XM_054346665.1XP_054202640.1  dynamin-like 120 kDa protein, mitochondrial isoform X15

  13. XM_054346667.1XP_054202642.1  dynamin-like 120 kDa protein, mitochondrial isoform X8

  14. XM_054346668.1XP_054202643.1  dynamin-like 120 kDa protein, mitochondrial isoform X10