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OPA1 (optic atrophy 1 (autosomal dominant))

Identity

Other namesMGM1
NPG
NTG
largeG
HGNC (Hugo) OPA1
LocusID (NCBI) 4976
Location 3q29
Location_base_pair Starts at 193310933 and ends at 193415600 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)OPA1   8140
Cards
Entrez_Gene (NCBI)OPA1  4976  optic atrophy 1 (autosomal dominant)
GeneCards (Weizmann)OPA1
Ensembl (Hinxton)ENSG00000198836 [Gene_View]  chr3:193310933-193415600 [Contig_View]  OPA1 [Vega]
ICGC DataPortalENSG00000198836
cBioPortalOPA1
AceView (NCBI)OPA1
Genatlas (Paris)OPA1
WikiGenes4976
SOURCE (Princeton)NM_015560 NM_130831 NM_130832 NM_130833 NM_130834 NM_130835 NM_130836 NM_130837
Genomic and cartography
GoldenPath (UCSC)OPA1  -  3q29   chr3:193310933-193415600 +  3q29   [Description]    (hg19-Feb_2009)
EnsemblOPA1 - 3q29 [CytoView]
Mapping of homologs : NCBIOPA1 [Mapview]
OMIM125250   165500   605290   606657   
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)AC_000135 NC_000003 NC_018914 NG_011605 NT_005612 NW_001838884 NW_004929311
Consensus coding sequences : CCDS (NCBI)OPA1
Cluster EST : UnigeneHs.594504 [ NCBI ]
CGAP (NCI)Hs.594504
Alternative Splicing : Fast-db (Paris)GSHG0021434
Alternative Splicing GalleryENSG00000198836
Gene ExpressionOPA1 [ NCBI-GEO ]     OPA1 [ SEEK ]   OPA1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60313 (Uniprot)
NextProtO60313  [Medical]
With graphics : InterProO60313
Splice isoforms : SwissVarO60313 (Swissvar)
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 ]   
Domains : Interpro (EBI)Dynamin_GTPase [organisation]   Dynamin_SF [organisation]   P-loop_NTPase [organisation]  
Related proteins : CluSTrO60313
Domain families : Pfam (Sanger)Dynamin_N (PF00350)   
Domain families : Pfam (NCBI)pfam00350   
Domain families : Smart (EMBL)DYNc (SM00053)  
DMDM Disease mutations4976
Blocks (Seattle)O60313
Human Protein AtlasENSG00000198836 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidO60313
Interologous Interaction database O60313
IntegromeDBOPA1
STRING (EMBL)OPA1
Ontologies - Pathways
Ontology : AmiGOmitochondrial fission  magnesium ion binding  neural tube closure  GTPase activity  protein binding  GTP binding  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial intermembrane space  GTP catabolic process  GTP catabolic process  apoptotic process  mitochondrion organization  mitochondrion organization  inner mitochondrial membrane organization  visual perception  mitochondrial fusion  mitochondrial fusion  mitochondrial fusion  membrane  integral component of membrane  axon transport of mitochondrion  mitochondrial crista  dendrite  negative regulation of release of cytochrome c from mitochondria  cellular senescence  
Ontology : EGO-EBImitochondrial fission  magnesium ion binding  neural tube closure  GTPase activity  protein binding  GTP binding  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial intermembrane space  GTP catabolic process  GTP catabolic process  apoptotic process  mitochondrion organization  mitochondrion organization  inner mitochondrial membrane organization  visual perception  mitochondrial fusion  mitochondrial fusion  mitochondrial fusion  membrane  integral component of membrane  axon transport of mitochondrion  mitochondrial crista  dendrite  negative regulation of release of cytochrome c from mitochondria  cellular senescence  
Protein Interaction DatabaseOPA1
Wikipedia pathwaysOPA1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)OPA1
snp3D : Map Gene to Disease4976
SNP (GeneSNP Utah)OPA1
SNP : HGBaseOPA1
Genetic variants : HAPMAPOPA1
Exome VariantOPA1
1000_GenomesOPA1 
ICGC programENSG00000198836 
Somatic Mutations in Cancer : COSMICOPA1 
CONAN: Copy Number AnalysisOPA1 
Mutations and Diseases : HGMDOPA1
Mutations and Diseases : intOGenOPA1
Genomic VariantsOPA1  OPA1 [DGVbeta]
dbVarOPA1
ClinVarOPA1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM125250    165500    605290    606657   
MedgenOPA1
GENETestsOPA1
Disease Genetic AssociationOPA1
Huge Navigator OPA1 [HugePedia]  OPA1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneOPA1
Homology/Alignments : Family Browser (UCSC)OPA1
Phylogenetic Trees/Animal Genes : TreeFamOPA1
Chemical/Protein Interactions : CTD4976
Chemical/Pharm GKB GenePA31927
Clinical trialOPA1
Cancer Resource (Charite)ENSG00000198836
Other databases
Probes
Litterature
PubMed161 Pubmed reference(s) in Entrez
CoreMineOPA1
iHOPOPA1
OncoSearchOPA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:58:27 CEST 2014

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