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

    Gene ID: 4976, updated on 2-Nov-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See OPA1 in Genome Data Viewer
    Location:
    3q29
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (193593208..193697811)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (196288807..196394453)
    RS_2024_09 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 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 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 
    is_active_in mitochondrial inner membrane 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
     
    is_active_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 HTP 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 GTPase OPA1, mitochondrial
    Names
    dynamin-like 120 kDa protein, mitochondrial
    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)

    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.

    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 GTPase OPA1, 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 GTPase OPA1, 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 GTPase OPA1, 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 GTPase OPA1, 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 GTPase OPA1, 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 GTPase OPA1, 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 GTPase OPA1, 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 GTPase OPA1, 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 GTPase OPA1, 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 GTPase OPA1, 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_2024_08

    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 GTPase OPA1, mitochondrial isoform X7

    2. XM_047448206.1XP_047304162.1  dynamin-like GTPase OPA1, mitochondrial isoform X1

    3. XM_047448208.1XP_047304164.1  dynamin-like GTPase OPA1, mitochondrial isoform X3

    4. XM_047448207.1XP_047304163.1  dynamin-like GTPase OPA1, mitochondrial isoform X2

    5. XM_047448210.1XP_047304166.1  dynamin-like GTPase OPA1, mitochondrial isoform X5

      Related
      ENSP00000376231.3, ENST00000392436.7
    6. XM_047448209.1XP_047304165.1  dynamin-like GTPase OPA1, mitochondrial isoform X4

    7. XM_047448211.1XP_047304167.1  dynamin-like GTPase OPA1, mitochondrial isoform X6

    8. XM_047448213.1XP_047304169.1  dynamin-like GTPase OPA1, mitochondrial isoform X8

      Related
      ENSP00000495943.1, ENST00000644959.1
    9. XM_047448214.1XP_047304170.1  dynamin-like GTPase OPA1, mitochondrial isoform X9

    10. XM_047448216.1XP_047304172.1  dynamin-like GTPase OPA1, 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 GTPase OPA1, mitochondrial isoform X4

    2. XM_054346655.1XP_054202630.1  dynamin-like GTPase OPA1, mitochondrial isoform X1

    3. XM_054346666.1XP_054202641.1  dynamin-like GTPase OPA1, mitochondrial isoform X7

    4. XM_054346658.1XP_054202633.1  dynamin-like GTPase OPA1, mitochondrial isoform X3

    5. XM_054346664.1XP_054202639.1  dynamin-like GTPase OPA1, mitochondrial isoform X6

    6. XM_054346656.1XP_054202631.1  dynamin-like GTPase OPA1, mitochondrial isoform X2

    7. XM_054346661.1XP_054202636.1  dynamin-like GTPase OPA1, mitochondrial isoform X5

    8. XM_054346657.1XP_054202632.1  dynamin-like GTPase OPA1, mitochondrial isoform X11

    9. XM_054346662.1XP_054202637.1  dynamin-like GTPase OPA1, mitochondrial isoform X13

    10. XM_054346659.1XP_054202634.1  dynamin-like GTPase OPA1, mitochondrial isoform X12

    11. XM_054346663.1XP_054202638.1  dynamin-like GTPase OPA1, mitochondrial isoform X14

    12. XM_054346665.1XP_054202640.1  dynamin-like GTPase OPA1, mitochondrial isoform X15

    13. XM_054346667.1XP_054202642.1  dynamin-like GTPase OPA1, mitochondrial isoform X8

    14. XM_054346668.1XP_054202643.1  dynamin-like GTPase OPA1, mitochondrial isoform X10