Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    OPA1 optic atrophy 1 (autosomal dominant) [ Homo sapiens (human) ]

    Gene ID: 4976, updated on 5-Jul-2015
    Official Symbol
    OPA1provided by HGNC
    Official Full Name
    optic atrophy 1 (autosomal dominant)provided by HGNC
    Primary source
    HGNC:HGNC:8140
    See related
    Ensembl:ENSG00000198836; HPRD:05596; 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; largeG
    Summary
    This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
    Orthologs
    See OPA1 in Epigenomics, MapViewer
    Location:
    3q29
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 eukaryotic translation elongation factor 1 alpha 1 pseudogene 23 Neighboring gene uncharacterized LOC105374281 Neighboring gene OPA1 antisense RNA 1 Neighboring gene uncharacterized LOC102724808 Neighboring gene uncharacterized LOC105374282 Neighboring gene uncharacterized LOC105374283

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    magnesium ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    axon transport of mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular senescence IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inner mitochondrial membrane organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion organization NAS
    Non-traceable Author Statement
    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 
    neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of dendrite development 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
     
    visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm 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 IDA
    Inferred from Direct Assay
    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 intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial intermembrane space ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    dynamin-like 120 kDa protein, mitochondrial
    Names
    dynamin-like guanosine triphosphatase
    mitochondrial dynamin-like GTPase
    optic atrophy protein 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

    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_015560.2NP_056375.2  dynamin-like 120 kDa protein, mitochondrial isoform 1

      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
      ENSP00000376233, OTTHUMP00000195065, ENST00000392438, OTTHUMT00000313812
      Conserved Domains (1) summary
      cd08771
      Location:287561
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    2. 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
      UniProtKB/TrEMBL
      E5KLK2
      Conserved Domains (1) summary
      cd08771
      Location:251525
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    3. 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
    4. 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/TrEMBL
      E5KLK1
      Related
      ENSP00000354781, ENST00000361150
      Conserved Domains (1) summary
      cd08771
      Location:288562
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    5. NM_130834.2NP_570847.2  dynamin-like 120 kDa protein, mitochondrial isoform 5

      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
      E5KLJ6
      Related
      ENSP00000354429, ENST00000361828
      Conserved Domains (1) summary
      cd08771
      Location:305579
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    6. 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, ENST00000361715
      Conserved Domains (1) summary
      cd08771
      Location:306580
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    7. 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/TrEMBL
      E5KLJ7
      Related
      ENSP00000354681, OTTHUMP00000195064, ENST00000361908, OTTHUMT00000313811
      Conserved Domains (1) summary
      cd08771
      Location:324598
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    8. 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/TrEMBL
      E5KLJ5
      Related
      ENSP00000355324, ENST00000361510
      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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011512863.1XP_011511165.1  

      Conserved Domains (1) summary
      cd08771
      Location:342616
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    2. XM_011512865.1XP_011511167.1  

      Conserved Domains (1) summary
      cd08771
      Location:305579
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    3. XM_011512864.1XP_011511166.1  

      Conserved Domains (1) summary
      cd08771
      Location:324598
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    4. XM_011512867.1XP_011511169.1  

      Conserved Domains (1) summary
      cd08771
      Location:287561
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    5. XM_011512869.1XP_011511171.1  

      Conserved Domains (1) summary
      cd08771
      Location:342616
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    6. XM_011512866.1XP_011511168.1  

      Conserved Domains (1) summary
      cd08771
      Location:288562
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    7. XM_011512868.1XP_011511170.1  

      Conserved Domains (1) summary
      cd08771
      Location:251525
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      193273732..193378486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)