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OPA1 (OPA1, mitochondrial dynamin like GTPase)

Identity

Alias_namesoptic atrophy 1 (autosomal dominant)
Alias_symbol (synonym)NTG
KIAA0567
FLJ12460
NPG
MGM1
Other aliasBERHS
MTDPS14
largeG
HGNC (Hugo) OPA1
LocusID (NCBI) 4976
Atlas_Id 52594
Location 3q29  [Link to chromosome band 3q29]
Location_base_pair Starts at 193593144 and ends at 193697811 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP6V1A (3q13.2) / OPA1 (3q29)FGF12 (3q28) / OPA1 (3q29)OPA1 (3q29) / ATP13A4 (3q29)
ATP6V1A 3q13.2 / OPA1 3q29OPA1 3q29 / ATP13A4 3q29

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)OPA1   8140
LRG (Locus Reference Genomic)LRG_337
Cards
Entrez_Gene (NCBI)OPA1  4976  OPA1, mitochondrial dynamin like GTPase
AliasesBERHS; MGM1; MTDPS14; NPG; 
NTG; largeG
GeneCards (Weizmann)OPA1
Ensembl hg19 (Hinxton)ENSG00000198836 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198836 [Gene_View]  chr3:193593144-193697811 [Contig_View]  OPA1 [Vega]
ICGC DataPortalENSG00000198836
TCGA cBioPortalOPA1
AceView (NCBI)OPA1
Genatlas (Paris)OPA1
WikiGenes4976
SOURCE (Princeton)OPA1
Genetics Home Reference (NIH)OPA1
Genomic and cartography
GoldenPath hg38 (UCSC)OPA1  -     chr3:193593144-193697811 +  3q29   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OPA1  -     3q29   [Description]    (hg19-Feb_2009)
EnsemblOPA1 - 3q29 [CytoView hg19]  OPA1 - 3q29 [CytoView hg38]
Mapping of homologs : NCBIOPA1 [Mapview hg19]  OPA1 [Mapview hg38]
OMIM125250   165500   210000   605290   606657   616896   
Gene and transcription
Genbank (Entrez)AB011139 AK022107 AK022522 BC035393 BC043443
RefSeq transcript (Entrez)NM_015560 NM_130831 NM_130832 NM_130833 NM_130834 NM_130835 NM_130836 NM_130837
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OPA1
Cluster EST : UnigeneHs.594504 [ NCBI ]
CGAP (NCI)Hs.594504
Alternative Splicing GalleryENSG00000198836
Gene ExpressionOPA1 [ NCBI-GEO ]   OPA1 [ EBI - ARRAY_EXPRESS ]   OPA1 [ SEEK ]   OPA1 [ MEM ]
Gene Expression Viewer (FireBrowse)OPA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4976
GTEX Portal (Tissue expression)OPA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60313   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60313  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60313
Splice isoforms : SwissVarO60313
Catalytic activity : Enzyme3.6.5.5 [ Enzyme-Expasy ]   3.6.5.53.6.5.5 [ IntEnz-EBI ]   3.6.5.5 [ BRENDA ]   3.6.5.5 [ KEGG ]   
PhosPhoSitePlusO60313
Domaine pattern : Prosite (Expaxy)G_DYNAMIN_2 (PS51718)   
Domains : Interpro (EBI)Dynamin_GTPase    Dynamin_SF    G_DYNAMIN_dom    Opa1    P-loop_NTPase   
Domain families : Pfam (Sanger)Dynamin_N (PF00350)   
Domain families : Pfam (NCBI)pfam00350   
Domain families : Smart (EMBL)DYNc (SM00053)  
Conserved Domain (NCBI)OPA1
DMDM Disease mutations4976
Blocks (Seattle)OPA1
SuperfamilyO60313
Human Protein AtlasENSG00000198836
Peptide AtlasO60313
HPRD05596
IPIIPI00006721   IPI00107752   IPI00375149   IPI00375150   IPI00107749   IPI00107750   IPI00107751   IPI00107753   IPI00852888   IPI00853084   IPI00927797   
Protein Interaction databases
DIP (DOE-UCLA)O60313
IntAct (EBI)O60313
FunCoupENSG00000198836
BioGRIDOPA1
STRING (EMBL)OPA1
ZODIACOPA1
Ontologies - Pathways
QuickGOO60313
Ontology : AmiGOmitochondrial genome maintenance  mitochondrial fission  magnesium ion binding  dynamin family protein polymerization involved in mitochondrial fission  GTPase activity  protein binding  GTP binding  nucleoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial intermembrane space  mitochondrial intermembrane space  cytosol  apoptotic process  mitochondrion organization  mitochondrion organization  inner mitochondrial membrane organization  visual perception  microtubule binding  mitochondrial fusion  mitochondrial fusion  mitochondrial fusion  positive regulation of mitochondrial fusion  positive regulation of neuron maturation  membrane  integral component of membrane  axonal transport of mitochondrion  mitochondrial crista  dendrite  extrinsic component of mitochondrial inner membrane  regulation of apoptotic process  intracellular distribution of mitochondria  positive regulation of dendritic spine morphogenesis  mitochondrion morphogenesis  negative regulation of release of cytochrome c from mitochondria  cellular senescence  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  axon cytoplasm  
Ontology : EGO-EBImitochondrial genome maintenance  mitochondrial fission  magnesium ion binding  dynamin family protein polymerization involved in mitochondrial fission  GTPase activity  protein binding  GTP binding  nucleoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial intermembrane space  mitochondrial intermembrane space  cytosol  apoptotic process  mitochondrion organization  mitochondrion organization  inner mitochondrial membrane organization  visual perception  microtubule binding  mitochondrial fusion  mitochondrial fusion  mitochondrial fusion  positive regulation of mitochondrial fusion  positive regulation of neuron maturation  membrane  integral component of membrane  axonal transport of mitochondrion  mitochondrial crista  dendrite  extrinsic component of mitochondrial inner membrane  regulation of apoptotic process  intracellular distribution of mitochondria  positive regulation of dendritic spine morphogenesis  mitochondrion morphogenesis  negative regulation of release of cytochrome c from mitochondria  cellular senescence  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  axon cytoplasm  
NDEx NetworkOPA1
Atlas of Cancer Signalling NetworkOPA1
Wikipedia pathwaysOPA1
Orthology - Evolution
OrthoDB4976
GeneTree (enSembl)ENSG00000198836
Phylogenetic Trees/Animal Genes : TreeFamOPA1
HOVERGENO60313
HOGENOMO60313
Homologs : HomoloGeneOPA1
Homology/Alignments : Family Browser (UCSC)OPA1
Gene fusions - Rearrangements
Fusion : MitelmanATP6V1A/OPA1 [3q13.2/3q29]  [t(3;3)(q13;q29)]  
Fusion: TCGAATP6V1A 3q13.2 OPA1 3q29 BRCA
Fusion: TCGAOPA1 3q29 ATP13A4 3q29 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOPA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OPA1
dbVarOPA1
ClinVarOPA1
1000_GenomesOPA1 
Exome Variant ServerOPA1
ExAC (Exome Aggregation Consortium)OPA1 (select the gene name)
Genetic variants : HAPMAP4976
Genomic Variants (DGV)OPA1 [DGVbeta]
DECIPHEROPA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOPA1 
Mutations
ICGC Data PortalOPA1 
TCGA Data PortalOPA1 
Broad Tumor PortalOPA1
OASIS PortalOPA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOPA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOPA1
LOVD (Leiden Open Variation Database)MITOchondrial DYNamics variation pages
BioMutasearch OPA1
DgiDB (Drug Gene Interaction Database)OPA1
DoCM (Curated mutations)OPA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OPA1 (select a term)
intoGenOPA1
Cancer3DOPA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125250    165500    210000    605290    606657    616896   
Orphanet1485    1461    13690   
MedgenOPA1
Genetic Testing Registry OPA1
NextProtO60313 [Medical]
TSGene4976
GENETestsOPA1
Target ValidationOPA1
Huge Navigator OPA1 [HugePedia]
snp3D : Map Gene to Disease4976
BioCentury BCIQOPA1
ClinGenOPA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4976
Chemical/Pharm GKB GenePA31927
Clinical trialOPA1
Miscellaneous
canSAR (ICR)OPA1 (select the gene name)
Probes
Litterature
PubMed199 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOPA1
EVEXOPA1
GoPubMedOPA1
iHOPOPA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:47:57 CEST 2017

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