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

Gene ID: 4976, updated on 11-Sep-2014
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]
See OPA1 in Epigenomics, MapViewer
Location:
3q29
Exon count:
31
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 type 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 uncharacterized LOC647323 Neighboring gene uncharacterized LOC100505902 Neighboring gene developmental pluripotency associated 2 pseudogene 3 Neighboring gene uncharacterized LOC285389

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
 
Process Evidence Code Pubs
GTP catabolic process IEA
Inferred from Electronic Annotation
more info
 
GTP catabolic process TAS
Traceable Author Statement
more info
PubMed 
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 
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
 
mitochondrial fusion TAS
Traceable Author Statement
more info
PubMed 
mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
 
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
 
negative regulation of release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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 NAS
Non-traceable Author Statement
more info
 
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 
Preferred Names
dynamin-like 120 kDa protein, mitochondrial
Names
dynamin-like 120 kDa protein, mitochondrial
optic atrophy protein 1
mitochondrial dynamin-like GTPase
dynamin-like guanosine triphosphatase
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 

    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 proteins identical to 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 proteins identical to 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 proteins identical to 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 proteins identical to 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 proteins identical to 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 proteins identical to 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 proteins identical to 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 proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

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

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    190698074..190803338
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

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