OPA1 Gene
protein-coding GIFtS: 61
GCID: GC03P193311
|
|
optic atrophy 1 (autosomal dominant)
| |
Aliases
for OPA1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Optic Atrophy 1 (Autosomal Dominant)1 2 | | FLJ124601 | | NPG1 2 5 | | Dynamin-Like 120 KDa Protein, Mitochondrial2 | | NTG1 2 5 | | Dynamin-Like Guanosine Triphosphatase2 | | MGM11 2 | | LargeG1 | | KIAA05671 3 | | Mitochondrial Dynamin-Like GTPase2 | | Optic Atrophy Protein 12 3 | | EC 3.6.5.53 |
Export aliases for OPA1 gene to outside databasesPrevious GC identifers: GC03P190374 GC03P194572 GC03P194713 GC03P194632 GC03P194793 GC03P190698 |
Summaries
for OPA1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for OPA1:
This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is acomponent of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, whichis a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases tolegal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. (provided byRefSeq, Mar 2009)
UniProtKB/Swiss-Prot: OPA1_HUMAN, O60313Function: Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusionbarrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic apoptoticsignals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into themitochondrial intermembrane spaceFunction: Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 followingstress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation ofmitochondrial fusion
Gene Wiki entry for OPA1 (Optic atrophy 1)
|
Genomic Views
for OPA1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the OPA1 gene promoter:
p53 NF-kappaB
Other transcription factors
Search SABiosciences Chromatin IP Primers for OPA1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPA1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q28-q29 Ensembl cytogenetic band: 3q29 HGNC cytogenetic band: 3q28-q29OPA1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P193311: view genomic region
(about GC identifiers)
Start:
|
193,310,933 bp from pter |
End:
|
193,415,612 bp from pter |
Size:
|
104,680 bases |
Orientation:
|
plus strand |
|
Proteins
for OPA1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: OPA1_HUMAN, O60313 (See
protein sequence)Recommended Name: Dynamin-like 120 kDa protein, mitochondrial precursor Size: 960 amino acids; 111631 Da
Subunit: Oligomeric complex consisting of membrane-bound and soluble forms of OPA1. Interacts with CHCHD3 and IMMT;these interactions occur preferentially with soluble OPA1 forms. Binds PARL (By similarity)
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion intermembrane space
Sequence caution: Sequence=AF416919; Type=Miscellaneous discrepancy;
Secondary accessions: D3DNW4Alternative splicing: 2 isoforms: O60313-1 O60313-2 (Proteolytic processing near Gln-220 produces form S2)Explore the universe of human proteins at neXtProt for OPA1: NX_O60313
Post-translational modifications:
PARL-dependent proteolytic processing releases an antiapoptotic soluble form not required for mitochondrial fusion.Cleaved by OMA1 at position S1 following stress conditions1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O60313
OPA1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (8 alternative transcripts):
NP_056375.2 NP_570844.1 NP_570845.1 NP_570846.1 NP_570847.2 NP_570848.1 NP_570849.2 NP_570850.2
ENSEMBL proteins: ENSP00000354681 ENSP00000376233 ENSP00000376232 ENSP00000399877 ENSP00000376231 ENSP00000409084 ENSP00000398358 ENSP00000411699 ENSP00000355324 ENSP00000355311 ENSP00000354429 ENSP00000354781
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
OPA1 for ontologies About GeneDecksing
OPA1 Antibody Products:
Assay Products for OPA1: |
Protein
Domains /
Families
for OPA1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
OPA1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O60313ProtoNet protein and cluster: O60313 UniProtKB/Swiss-Prot: OPA1_HUMAN, O60313Similarity: Belongs to the dynamin family |
Function
for OPA1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: OPA1_HUMAN, O60313Function: Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusionbarrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic apoptoticsignals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into themitochondrial intermembrane spaceFunction: Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 followingstress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation ofmitochondrial fusionCatalytic activity: GTP + H(2)O = GDP + phosphateEnzyme Number (IUBMB): EC 3.6.5.51
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OPA1 (see all 10)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OPA1 (see all 8)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 8): OPA1 (NM_015560) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for OPA1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPA1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPA1 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
OPA1 for ontologies About GeneDecksing
Animal Models:
15 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Opa1):
OPA1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for OPA1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for OPA1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
5/23 Interacting proteins for OPA1 (O603131, 2, 3 ENSP000003546814) via UniProtKB, MINT, STRING, and/or I2D (see all 23)About this table
Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table
OPA1 for ontologies About GeneDecksing
|
Drugs & Compounds
for OPA1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
OPA1 for compounds About GeneDecksing
 Browse Tocris compounds for OPA1
1 Novoseek chemical compound relationship for OPA1 gene About this table
Search CenterWatch for drugs/clinical trials and news about OPA1
|
Transcripts
for OPA1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for OPA1 gene (8 alternative transcripts): NM_015560.2 NM_130831.2 NM_130832.2 NM_130833.2 NM_130834.2 NM_130835.2 NM_130836.2 NM_130837.2 Unigene Cluster for OPA1: Optic atrophy 1 (autosomal dominant) Hs.744078 [show with all ESTs]Unigene Representative Sequence: NM_13083718/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19): ENST00000361908(uc003fti.3 uc003ftk.3) ENST00000392438(uc003ftm.3 uc003ftn.3)
ENST00000392437 ENST00000419435 ENST00000392436 ENST00000487986 ENST00000434811
ENST00000497189 ENST00000495476 ENST00000475899 ENST00000483516 ENST00000482865
ENST00000445863 ENST00000429164 ENST00000495261 ENST00000361510(uc003ftg.3)
ENST00000361715(uc003fth.3) ENST00000361828(uc003ftj.3 uc003ftl.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OPA1 (see all 10)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OPA1 (see all 8)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 8): OPA1 (NM_015560) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for OPA1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPA1 |
Additional cDNA sequence: AB011139.1 AK022107.1 AK022522.1 BC035393.1 BC043443.2 BC058013.1 BC075805.1 15 DOTS entries: DT.91766321 DT.100027663 DT.456267 DT.91766342 DT.91853595 DT.95274973 DT.100734725 DT.40128729 DT.91766332 DT.100777184 DT.120925085 DT.120925098 DT.91766331 DT.100777187 DT.95322132 24/282 AceView cDNA sequences (see all 282): D79801 AI802224 AA890141 CR612060 AA176324 AA479356 AA629959 AW453077 AA384830 AA705689 AI623472 CA430809 AA996200 AA352640 AW512233 CN480590 AU121045 AI985467 N48461 BM762762 AA603806 BF439570 AI268768 BU686872
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for OPA1 (see all 6) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ |
|---|
|
| SP1: | | | | | | | | | - | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | |
| SP2: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30a | · | 30b | ^ | 31a | · | 31b |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | - | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for OPA1
|
Expression
for OPA1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| OPA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTATATGTT
About this image
See OPA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for OPA1
SOURCE GeneReport for Unigene cluster: Hs.744078
UniProtKB/Swiss-Prot: OPA1_HUMAN, O60313Tissue specificity: Highly expressed in retina. Also expressed in brain, testis, heart and skeletal muscle. Isoform 1expressed in retina, skeletal muscle, heart, lung, ovary, colon, thyroid gland, leukocytes and fetal brain. Isoform 2expressed in colon, liver, kidney, thyroid gland and leukocytes. Low levels of all isoforms expressed in a variety oftissues
SABiosciences Expression via Pathway-Focused PCR Arrays including OPA1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OPA1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OPA1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPA1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPA1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPA1 |
Orthologs
for OPA1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for OPA1 gene from 6/25 species (see all 25) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
OPA11 |
optic atrophy 1 (autosomal dominant) |
78.3(n)
87.32(a) |
|
424900 NM_001039309.1 NP_001034398.1 |
lizard
(Anolis carolinensis) |
Reptilia |
OPA16 |
-- |
91(a) |
1 ↔ 1 |
GL343538.1(174444-217479) |
African clawed frog
(Xenopus laevis) |
Amphibia |
480448932 |
-- |
80.31(n) |
|
48044893 |
zebrafish
(Danio rerio) |
Actinopterygii |
BC049501.12 |
-- |
78.81(n) |
|
BC049501.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG84793
opa1-like1 |
GTP binding3
optic atrophy 1-like1 |
54(a)3
56.19(n)1
55.97(a)1 |
|
50E43
365781 NM_166040.11 NP_725369.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
D2013.53
eat-31 |
GTP-binding protein3
Protein EAT-31 |
56(a)3
56.03(n)1
53.73(a)1 |
|
II(9324799-9329237)3
1744761 NM_063585.61 NP_495986.31 |
ENSEMBL Gene Tree for OPA1 (if available)
TreeFam Gene Tree for OPA1 (if available) |
Paralogs
for OPA1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for OPA1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for OPA1 (193310933 - 193415612 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for OPA1
1 CNV: 3471
2 Indels: 98578 33748
Human Gene Mutation Database (HGMD): OPA1
Locus Specific Mutation Databases (LSDB): OPA1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OPA1 |
|
Disorders
/ Diseases
for OPA1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
OPA1 for disorders About GeneDecksing
OMIM gene information: 605290
OMIM disorders: 165500 606657 125250
UniProtKB/Swiss-Prot: OPA1_HUMAN, O60313
Defects in OPA1 are a cause of optic atrophy type 1 (OPA1) [MIM:165500]. OPA1 is a dominantly inherited opticneuropathy occurring in 1 in 50,000 individuals that features progressive loss in visual acuity leading, in manycases, to legal blindness Defects in OPA1 are the cause of dominant optic atrophy plus syndrome (DOA+) [MIM:125250]. A neurologicdisorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhoodwith variable presentation of other clinical manifestations including progressive external ophthalmoplegia, musclecramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes
20/37  diseases for OPA1 (see all 37): About MalaCardsoptic atrophy optic atrophy type 1 charcot-marie-tooth disease angle-closure glaucoma
open-angle glaucoma autosomal dominant progressive external ophthalmoplegia leber hereditary optic neuropathy primary angle-closure glaucoma
blindness neuropathy low tension glaucoma blue color blindness
primary open angle glaucoma glaucoma sensorineural hearing loss behr syndrome
hearing loss color blindness tooth disease optic neuritis
4 diseases from the University of Copenhagen DISEASES database for OPA1:Optic atrophy Leber hereditary optic neuropathy Low tension glaucoma Blue color blindness 10/13 Novoseek disease relationships for OPA1 gene (see all 13) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| optic atrophy autosomal dominant |
98.8 |
69 |
14644237 (3), 14961560 (2), 17318099 (2), 11440988 (2) (see all 50) |
| optic atrophy |
87.1 |
40 |
12842213 (3), 15531309 (3), 16735988 (3), 16513463 (3) (see all 18) |
| optic neuropathy |
86.5 |
10 |
19325939 (2), 11017079 (1), 20157369 (1), 18158317 (1) (see all 8) |
| lebers hereditary optic neuropathy |
86.2 |
3 |
20069065 (1), 19325939 (1), 19915464 (1) |
| charcot-marie-tooth disease |
58 |
3 |
16781135 (1), 19584314 (1), 16244327 (1) |
| mitochondrial diseases |
50.4 |
1 |
11855928 (1) |
| glaucoma |
49.9 |
13 |
19581274 (2), 17188046 (2), 15534475 (2), 14551537 (2) (see all 8) |
| glaucoma open-angle |
35.3 |
3 |
16785854 (2), 17188046 (1) |
| blindness |
34.5 |
5 |
11017079 (1), 16617242 (1), 14970223 (1), 11810270 (1) (see all 5) |
| neurodegenerative diseases |
16.9 |
1 |
19389487 (1), 20038678 (1), 19584314 (1) |
GeneTests: OPA1
Optic Atrophy Type 1
Genetic Association Database (GAD): OPA1
Human Genome Epidemiology (HuGE) Navigator: OPA1 (27 documents)
Export disorders for OPA1 gene to outside databases
|
Publications
for OPA1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for OPA1 gene, integrated from 9 sources (see all 191):
(articles sorted by number of sources associating them with OPA1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. (PubMed id 16513463)1, 2, 9 Nakamura M.... Terasaki H. (2006)
- Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. (PubMed id 19325939)1, 2, 9 Nochez Y.... Reynier P. (2009)
- Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. (PubMed id 15531309)1, 2, 9 Payne M....Zhang K. (2004)
- Investigation of the association between OPA1 polymorphisms and normal-tension glaucoma in Korea. (PubMed id 15534475)1, 4, 9 Woo S.J....Yoo T. (2004)
- OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484. (PubMed id 12842213)1, 4, 9 Yamada T....Kanai A. (2003)
- Polymorphisms in OPA1 are associated with normal tension glaucoma. (PubMed id 14551537)1, 4, 9 Powell B.L....Churchill A.J. (2003)
- OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. (PubMed id 11017080)1, 2, 9 Alexander C.... Wissinger B. (2000)
- The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. (PubMed id 14644237)1, 4, 9 Amati-Bonneau P....Bonneau D. (2003)
- A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. (PubMed id 11810296)1, 4, 9 Aung T....Bhattacharya S.S. (2002)
- Mutation spectrum and splicing variants in the OPA1 gene. (PubMed id 11810270)1, 2, 9 Delettre C.... Hamel C.P. (2001)
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External Searches for OPA1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing OPA1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing OPA1 gene
(According to HUGE)
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Specialized Databases showing OPA1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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| Name | Description |
| PharmGKB entry for OPA1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPA1 |
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| Patent Information for OPA1 gene:
Search GeneIP for patents involving OPA1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for OPA1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for OPA1 | | OriGene shRNA RFP for OPA1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OPA1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OPA1 | | | OriGene Protein Over-expression Lysate for OPA1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for OPA1 | | OriGene 3'-UTR Clone for OPA1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OPA1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OPA1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for OPA1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for OPA1 | | OriGene Custom Protein Services for OPA1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OPA1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OPA1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPA1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OPA1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPA1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPA1 |
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 | | | OPA1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPA1 |
|  |  |  | | | | ThermoFisher Antibody for OPA1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPA1 |
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