Details for: OPA1

Gene ID: 4976

Symbol: OPA1

Ensembl ID: ENSG00000198836

Description: OPA1 mitochondrial dynamin like GTPase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 280.8186
    Cell Significance Index: -43.6800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 184.1956
    Cell Significance Index: -46.7200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 116.2284
    Cell Significance Index: -47.8800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 104.7821
    Cell Significance Index: -49.4700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 97.9921
    Cell Significance Index: -39.8100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 88.2024
    Cell Significance Index: -45.3700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 73.7383
    Cell Significance Index: -49.4800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 41.8437
    Cell Significance Index: -39.9500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 35.5974
    Cell Significance Index: -43.8900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 17.5448
    Cell Significance Index: -47.0000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 15.5659
    Cell Significance Index: -47.8100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.4479
    Cell Significance Index: -49.1200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 11.3978
    Cell Significance Index: -24.9500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.7731
    Cell Significance Index: 191.7800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.1573
    Cell Significance Index: 432.7500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.8446
    Cell Significance Index: 103.5100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.6767
    Cell Significance Index: 74.1700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.6735
    Cell Significance Index: 63.3700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.5268
    Cell Significance Index: 166.0700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.4956
    Cell Significance Index: 536.4300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.4786
    Cell Significance Index: 293.4400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.4312
    Cell Significance Index: 85.9200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.3257
    Cell Significance Index: 33.1400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.2731
    Cell Significance Index: 17.3700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2681
    Cell Significance Index: 97.3200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.1185
    Cell Significance Index: 75.2100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.0106
    Cell Significance Index: 28.8400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.9602
    Cell Significance Index: 20.5300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.9223
    Cell Significance Index: 637.9000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.9017
    Cell Significance Index: 55.4200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.8709
    Cell Significance Index: 24.3400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.7184
    Cell Significance Index: 17.2300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.6430
    Cell Significance Index: 12.5500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6283
    Cell Significance Index: 28.4800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6089
    Cell Significance Index: 17.5500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.5115
    Cell Significance Index: 13.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4393
    Cell Significance Index: 79.2000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3976
    Cell Significance Index: 48.8900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3513
    Cell Significance Index: 7.6100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3172
    Cell Significance Index: 31.3800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2859
    Cell Significance Index: 4.9000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2752
    Cell Significance Index: 150.3000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1967
    Cell Significance Index: 86.9800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1955
    Cell Significance Index: 176.5100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1858
    Cell Significance Index: 9.6500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1823
    Cell Significance Index: 8.5000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1638
    Cell Significance Index: 308.3500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1544
    Cell Significance Index: 98.0300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1522
    Cell Significance Index: 20.9000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1316
    Cell Significance Index: 59.7400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1241
    Cell Significance Index: 14.6400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0966
    Cell Significance Index: 3.4000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0939
    Cell Significance Index: 15.2700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0865
    Cell Significance Index: 133.1400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0818
    Cell Significance Index: 4.2600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0774
    Cell Significance Index: 13.2100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0773
    Cell Significance Index: 142.5700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0658
    Cell Significance Index: 12.5200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0198
    Cell Significance Index: 26.8700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0094
    Cell Significance Index: -0.2500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0153
    Cell Significance Index: -11.3200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0179
    Cell Significance Index: -13.1600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0190
    Cell Significance Index: -11.8800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0354
    Cell Significance Index: -2.2300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0380
    Cell Significance Index: -0.8100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0432
    Cell Significance Index: -1.1100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0525
    Cell Significance Index: -6.0200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0561
    Cell Significance Index: -42.4700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0584
    Cell Significance Index: -32.9400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0942
    Cell Significance Index: -6.0800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1285
    Cell Significance Index: -13.1300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1300
    Cell Significance Index: -6.1100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1382
    Cell Significance Index: -2.0400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1396
    Cell Significance Index: -29.4000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1475
    Cell Significance Index: -42.4300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1489
    Cell Significance Index: -3.2600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1526
    Cell Significance Index: -22.1800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1802
    Cell Significance Index: -23.2800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1856
    Cell Significance Index: -3.8500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1973
    Cell Significance Index: -25.2900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2492
    Cell Significance Index: -29.0400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2664
    Cell Significance Index: -30.4100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2874
    Cell Significance Index: -3.5700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3503
    Cell Significance Index: -36.4700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3533
    Cell Significance Index: -26.3300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3693
    Cell Significance Index: -26.1200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.3805
    Cell Significance Index: -6.4100
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.4332
    Cell Significance Index: -6.2300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4732
    Cell Significance Index: -37.4800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5236
    Cell Significance Index: -27.4900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.5395
    Cell Significance Index: -14.6900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.5704
    Cell Significance Index: -6.8000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.6407
    Cell Significance Index: -5.9000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.6987
    Cell Significance Index: -20.0300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.7256
    Cell Significance Index: -10.7100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.7707
    Cell Significance Index: -9.6100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7865
    Cell Significance Index: -48.2200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.7896
    Cell Significance Index: -25.2900
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.8143
    Cell Significance Index: -6.6400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.8491
    Cell Significance Index: -5.1300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** OPA1 is a mitochondrial GTPase that belongs to the dynamin superfamily. It is a large protein, with a molecular weight of approximately 120 kDa, and is primarily localized to the mitochondrial outer membrane. OPA1 is characterized by its ability to interact with various proteins, including other GTPases, proteins involved in mitochondrial dynamics, and components of the mitochondrial unfolded protein response (UPRmt). The protein has a unique structure, consisting of multiple GTP-binding domains, which are essential for its function. **Pathways and Functions:** OPA1 is involved in various cellular processes, including: 1. **Mitochondrial dynamics:** OPA1 plays a critical role in regulating mitochondrial fission and fusion. It interacts with other proteins, such as Drp1 and Fis1, to control mitochondrial morphology and dynamics. 2. **Apoptosis:** OPA1 is involved in the regulation of apoptosis, particularly in the context of mitochondrial outer membrane permeabilization (MOMP). Mutations in OPA1 can lead to aberrant mitochondrial behavior, contributing to apoptotic cell death. 3. **Protein metabolism:** OPA1 is involved in the regulation of protein metabolism, including the degradation of mitochondrial proteins and the regulation of protein complex oligomerization. 4. **Neurotransmission:** OPA1 has been implicated in the regulation of neurotransmission, particularly in the context of GABAergic cortical interneurons. **Clinical Significance:** Mutations in the OPA1 gene have been associated with various neurodegenerative disorders, including: 1. **Mitochondrial myopathies:** Mutations in OPA1 have been linked to mitochondrial myopathies, characterized by muscle weakness, fatigue, and other systemic symptoms. 2. **Neurodegeneration with brain iron accumulation (NBIA):** OPA1 mutations have been associated with NBIA, a group of disorders characterized by progressive iron accumulation in the brain and other organs. 3. **Alzheimer's disease:** OPA1 mutations have been implicated in the pathogenesis of Alzheimer's disease, a neurodegenerative disorder characterized by cognitive decline and memory loss. 4. **Other disorders:** OPA1 mutations have also been associated with other disorders, including Parkinson's disease, peripheral neuropathy, and optic neuropathy. In conclusion, the OPA1 gene is a critical regulator of mitochondrial dynamics, apoptosis, and protein metabolism. Mutations in the OPA1 gene have been associated with various neurodegenerative disorders, highlighting the importance of this gene in maintaining cellular homeostasis. Further research is necessary to fully understand the mechanisms underlying OPA1-mediated disorders and to develop effective therapeutic strategies for the treatment of these conditions.

Genular Protein ID: 247888187

Symbol: OPA1_HUMAN

Name: Dynamin-like GTPase OPA1, mitochondrial

UniProtKB Accession Codes:

O60313 D3DNW4 E5KLJ5 E5KLJ6 E5KLJ7 E5KLK1 E5KLK2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CORUM 1 CTD 1 ChEBI 19 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 100 EMDB 24 Ensembl 6 ExpressionAtlas 1 GO 41 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 9 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 2 RefSeq 6 Rhea 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 4 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9628581

Title: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PubMed ID: 9628581

DOI: 10.1093/dnares/5.1.31

PubMed ID: 20843780

Title: Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

PubMed ID: 20843780

DOI: 10.1093/nar/gkq750

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11810270

Title: Mutation spectrum and splicing variants in the OPA1 gene.

PubMed ID: 11810270

DOI: 10.1007/s00439-001-0633-y

PubMed ID: 11017079

Title: Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.

PubMed ID: 11017079

DOI: 10.1038/79936

PubMed ID: 11017080

Title: OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

PubMed ID: 11017080

DOI: 10.1038/79944

PubMed ID: 16778770

Title: Regulation of mitochondrial morphology through proteolytic cleavage of OPA1.

PubMed ID: 16778770

DOI: 10.1038/sj.emboj.7601184

PubMed ID: 17709429

Title: OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L.

PubMed ID: 17709429

DOI: 10.1083/jcb.200704110

PubMed ID: 17615298

Title: OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria.

PubMed ID: 17615298

DOI: 10.1091/mbc.e07-02-0164

PubMed ID: 20038677

Title: Inducible proteolytic inactivation of OPA1 mediated by the OMA1 protease in mammalian cells.

PubMed ID: 20038677

DOI: 10.1083/jcb.200906083

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21364629

Title: Vital function of PRELI and essential requirement of its LEA motif.

PubMed ID: 21364629

DOI: 10.1038/cddis.2009.19

PubMed ID: 20185555

Title: OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.

PubMed ID: 20185555

DOI: 10.1093/hmg/ddq088

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21112924

Title: Heterozygous OPA1 mutations in Behr syndrome.

PubMed ID: 21112924

DOI: 10.1093/brain/awq306

PubMed ID: 20974897

Title: OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.

PubMed ID: 20974897

DOI: 10.1101/gr.108696.110

PubMed ID: 21081504

Title: ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function.

PubMed ID: 21081504

DOI: 10.1074/jbc.m110.171975

PubMed ID: 21636302

Title: Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

PubMed ID: 21636302

DOI: 10.1016/j.ymgme.2011.04.018

PubMed ID: 25012220

Title: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

PubMed ID: 25012220

DOI: 10.1093/brain/awu184

PubMed ID: 24616225

Title: The i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission.

PubMed ID: 24616225

DOI: 10.1083/jcb.201308006

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25146916

Title: 'Behr syndrome' with OPA1 compound heterozygote mutations.

PubMed ID: 25146916

DOI: 10.1093/brain/awu234

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27495975

Title: Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.

PubMed ID: 27495975

DOI: 10.7554/elife.16078

PubMed ID: 26561570

Title: Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

PubMed ID: 26561570

DOI: 10.1136/jmedgenet-2015-103361

PubMed ID: 28746876

Title: WBSCR16 Is a Guanine Nucleotide Exchange Factor Important for Mitochondrial Fusion.

PubMed ID: 28746876

DOI: 10.1016/j.celrep.2017.06.090

PubMed ID: 28628083

Title: Molecular basis of selective mitochondrial fusion by heterotypic action between OPA1 and cardiolipin.

PubMed ID: 28628083

DOI: 10.1038/ncb3560

PubMed ID: 31922487

Title: Two forms of Opa1 cooperate to complete fusion of the mitochondrial inner-membrane.

PubMed ID: 31922487

DOI: 10.7554/elife.50973

PubMed ID: 32228866

Title: Cryo-EM structures of S-OPA1 reveal its interactions with membrane and changes upon nucleotide binding.

PubMed ID: 32228866

DOI: 10.7554/elife.50294

PubMed ID: 33130824

Title: OPA1 and MICOS Regulate mitochondrial crista dynamics and formation.

PubMed ID: 33130824

DOI: 10.1038/s41419-020-03152-y

PubMed ID: 32567732

Title: MICOS assembly controls mitochondrial inner membrane remodeling and crista junction redistribution to mediate cristae formation.

PubMed ID: 32567732

DOI: 10.15252/embj.2019104105

PubMed ID: 32245890

Title: The short variant of optic atrophy 1 (OPA1) improves cell survival under oxidative stress.

PubMed ID: 32245890

DOI: 10.1074/jbc.ra119.010983

PubMed ID: 33237841

Title: Identification of new OPA1 cleavage site reveals that short isoforms regulate mitochondrial fusion.

PubMed ID: 33237841

DOI: 10.1091/mbc.e20-09-0605

PubMed ID: 32379273

Title: Structural insights into G domain dimerization and pathogenic mutation of OPA1.

PubMed ID: 32379273

DOI: 10.1083/jcb.201907098

PubMed ID: 37612504

Title: Structural mechanism of mitochondrial membrane remodelling by human OPA1.

PubMed ID: 37612504

DOI: 10.1038/s41586-023-06441-6

PubMed ID: 37612506

Title: OPA1 helical structures give perspective to mitochondrial dysfunction.

PubMed ID: 37612506

DOI: 10.1038/s41586-023-06462-1

PubMed ID: 11440988

Title: OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

PubMed ID: 11440988

DOI: 10.1093/hmg/10.13.1359

PubMed ID: 11440989

Title: Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

PubMed ID: 11440989

DOI: 10.1093/hmg/10.13.1369

PubMed ID: 12036970

Title: A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

PubMed ID: 12036970

PubMed ID: 12566046

Title: A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PubMed ID: 12566046

DOI: 10.1016/s0002-9394(02)01929-3

PubMed ID: 14961560

Title: Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

PubMed ID: 14961560

DOI: 10.1002/humu.9152

PubMed ID: 15531309

Title: Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

PubMed ID: 15531309

DOI: 10.1016/j.ajo.2004.06.011

PubMed ID: 15948788

Title: Dominant optic atrophy: correlation between clinical and molecular genetic studies.

PubMed ID: 15948788

DOI: 10.1111/j.1600-0420.2005.00448.x

PubMed ID: 16240368

Title: OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

PubMed ID: 16240368

DOI: 10.1002/ana.20681

PubMed ID: 16617242

Title: OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.

PubMed ID: 16617242

DOI: 10.1097/01.gim.0000214299.61930.c0

PubMed ID: 16513463

Title: Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

PubMed ID: 16513463

DOI: 10.1016/j.ophtha.2005.10.054

PubMed ID: 18360822

Title: Reversible optic neuropathy with OPA1 exon 5b mutation.

PubMed ID: 18360822

DOI: 10.1002/ana.21376

PubMed ID: 18195150

Title: Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

PubMed ID: 18195150

DOI: 10.1001/archneurol.2007.9

PubMed ID: 18065439

Title: Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

PubMed ID: 18065439

DOI: 10.1093/brain/awm272

PubMed ID: 18158317

Title: OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

PubMed ID: 18158317

DOI: 10.1093/brain/awm298

PubMed ID: 18204809

Title: A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.

PubMed ID: 18204809

DOI: 10.1007/s00415-008-0571-x

PubMed ID: 19319978

Title: Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

PubMed ID: 19319978

DOI: 10.1002/humu.21025

PubMed ID: 19325939

Title: Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.

PubMed ID: 19325939

PubMed ID: 19969356

Title: Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.

PubMed ID: 19969356

DOI: 10.1016/j.ophtha.2009.07.019

PubMed ID: 22382025

Title: A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy.

PubMed ID: 22382025

DOI: 10.1016/j.bbrc.2012.02.073

PubMed ID: 22857269

Title: Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

PubMed ID: 22857269

DOI: 10.1186/1471-2350-13-65

PubMed ID: 23387428

Title: Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

PubMed ID: 23387428

DOI: 10.1111/aos.12038

PubMed ID: 23401657

Title: Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

PubMed ID: 23401657

Sequence Information:

  • Length: 960
  • Mass: 111631
  • Checksum: 1C397109787AEB4D
  • Sequence:
    • MWRLRRAAVA CEVCQSLVKH SSGIKGSLPL QKLHLVSRSI YHSHHPTLKL QRPQLRTSFQ 
QFSSLTNLPL RKLKFSPIKY GYQPRRNFWP ARLATRLLKL RYLILGSAVG GGYTAKKTFD 
QWKDMIPDLS EYKWIVPDIV WEIDEYIDFE KIRKALPSSE DLVKLAPDFD KIVESLSLLK 
DFFTSGSPEE TAFRATDRGS ESDKHFRKVS DKEKIDQLQE ELLHTQLKYQ RILERLEKEN 
KELRKLVLQK DDKGIHHRKL KKSLIDMYSE VLDVLSDYDA SYNTQDHLPR VVVVGDQSAG 
KTSVLEMIAQ ARIFPRGSGE MMTRSPVKVT LSEGPHHVAL FKDSSREFDL TKEEDLAALR 
HEIELRMRKN VKEGCTVSPE TISLNVKGPG LQRMVLVDLP GVINTVTSGM APDTKETIFS 
ISKAYMQNPN AIILCIQDGS VDAERSIVTD LVSQMDPHGR RTIFVLTKVD LAEKNVASPS 
RIQQIIEGKL FPMKALGYFA VVTGKGNSSE SIEAIREYEE EFFQNSKLLK TSMLKAHQVT 
TRNLSLAVSD CFWKMVRESV EQQADSFKAT RFNLETEWKN NYPRLRELDR NELFEKAKNE 
ILDEVISLSQ VTPKHWEEIL QQSLWERVST HVIENIYLPA AQTMNSGTFN TTVDIKLKQW 
TDKQLPNKAV EVAWETLQEE FSRFMTEPKG KEHDDIFDKL KEAVKEESIK RHKWNDFAED 
SLRVIQHNAL EDRSISDKQQ WDAAIYFMEE ALQARLKDTE NAIENMVGPD WKKRWLYWKN 
RTQEQCVHNE TKNELEKMLK CNEEHPAYLA SDEITTVRKN LESRGVEVDP SLIKDTWHQV 
YRRHFLKTAL NHCNLCRRGF YYYQRHFVDS ELECNDVVLF WRIQRMLAIT ANTLRQQLTN 
TEVRRLEKNV KEVLEDFAED GEKKIKLLTG KRVQLAEDLK KVREIQEKLD AFIEALHQEK

Genular Protein ID: 3034950008

Symbol: E5KLK0_HUMAN

Name: N/A

UniProtKB Accession Codes:

E5KLK0

Database IDs:

ARBA 19 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 5 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 43 GO 9 Gene3D 1 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 PeptideAtlas 1 Pfam 2 RefSeq 1 Rhea 1 SAM 1 SMART 1 SMR 1 SUPFAM 1 iPTMnet 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 20843780

Title: Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

PubMed ID: 20843780

DOI: 10.1093/nar/gkq750

Sequence Information:

  • Length: 942
  • Mass: 109427
  • Checksum: 820B6AB3E4DC12A2
  • Sequence:
    • MWRLRRAAVA CEVCQSLVKH SSGIKGSLPL QKLHLVSRSI YHSHHPTLKL QRPQLRTSFQ 
QFSSLTNLPL RKLKFSPIKY GYQPRRNFWP ARLATRLLKL RYLILGSAVG GGYTAKKTFD 
QWKDMIPDLS EYKWIVPDIV WEIDEYIDFG HKLVSEVIGA SDLLLLLGSP EETAFRATDR 
GSESDKHFRK VSDKEKIDQL QEELLHTQLK YQRILERLEK ENKELRKLVL QKDDKGIHHR 
KLKKSLIDMY SEVLDVLSDY DASYNTQDHL PRVVVVGDQS AGKTSVLEMI AQARIFPRGS 
GEMMTRSPVK VTLSEGPHHV ALFKDSSREF DLTKEEDLAA LRHEIELRMR KNVKEGCTVS 
PETISLNVKG PGLQRMVLVD LPGVINTVTS GMAPDTKETI FSISKAYMQN PNAIILCIQD 
GSVDAERSIV TDLVSQMDPH GRRTIFVLTK VDLAEKNVAS PSRIQQIIEG KLFPMKALGY 
FAVVTGKGNS SESIEAIREY EEEFFQNSKL LKTSMLKAHQ VTTRNLSLAV SDCFWKMVRE 
SVEQQADSFK ATRFNLETEW KNNYPRLREL DRNELFEKAK NEILDEVISL SQVTPKHWEE 
ILQQSLWERV STHVIENIYL PAAQTMNSGT FNTTVDIKLK QWTDKQLPNK AVEVAWETLQ 
EEFSRFMTEP KGKEHDDIFD KLKEAVKEES IKRHKWNDFA EDSLRVIQHN ALEDRSISDK 
QQWDAAIYFM EEALQARLKD TENAIENMVG PDWKKRWLYW KNRTQEQCVH NETKNELEKM 
LKCNEEHPAY LASDEITTVR KNLESRGVEV DPSLIKDTWH QVYRRHFLKT ALNHCNLCRR 
GFYYYQRHFV DSELECNDVV LFWRIQRMLA ITANTLRQQL TNTEVRRLEK NVKEVLEDFA 
EDGEKKIKLL TGKRVQLAED LKKVREIQEK LDAFIEALHQ EK

Genular Protein ID: 4201179027

Symbol: E5KLJ9_HUMAN

Name: N/A

UniProtKB Accession Codes:

E5KLJ9

Database IDs:

ARBA 19 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 5 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 45 Ensembl 2 GO 9 Gene3D 1 GeneTree 1 HGNC 1 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 Rhea 1 SAM 1 SMART 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 20843780

Title: Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

PubMed ID: 20843780

DOI: 10.1093/nar/gkq750

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 979
  • Mass: 113681
  • Checksum: 45BB53BF00D02989
  • Sequence:
    • MWRLRRAAVA CEVCQSLVKH SSGIKGSLPL QKLHLVSRSI YHSHHPTLKL QRPQLRTSFQ 
QFSSLTNLPL RKLKFSPIKY GYQPRRNFWP ARLATRLLKL RYLILGSAVG GGYTAKKTFD 
QWKDMIPDLS EYKWIVPDIV WEIDEYIDFG HKLVSEVIGA SDLLLLLGSP EETAFRATDR 
GSESDKHFRK GLLGELILLQ QQIQEHEEEA RRAAGQYSTS YAQQKRKVSD KEKIDQLQEE 
LLHTQLKYQR ILERLEKENK ELRKLVLQKD DKGIHHRKLK KSLIDMYSEV LDVLSDYDAS 
YNTQDHLPRV VVVGDQSAGK TSVLEMIAQA RIFPRGSGEM MTRSPVKVTL SEGPHHVALF 
KDSSREFDLT KEEDLAALRH EIELRMRKNV KEGCTVSPET ISLNVKGPGL QRMVLVDLPG 
VINTVTSGMA PDTKETIFSI SKAYMQNPNA IILCIQDGSV DAERSIVTDL VSQMDPHGRR 
TIFVLTKVDL AEKNVASPSR IQQIIEGKLF PMKALGYFAV VTGKGNSSES IEAIREYEEE 
FFQNSKLLKT SMLKAHQVTT RNLSLAVSDC FWKMVRESVE QQADSFKATR FNLETEWKNN 
YPRLRELDRN ELFEKAKNEI LDEVISLSQV TPKHWEEILQ QSLWERVSTH VIENIYLPAA 
QTMNSGTFNT TVDIKLKQWT DKQLPNKAVE VAWETLQEEF SRFMTEPKGK EHDDIFDKLK 
EAVKEESIKR HKWNDFAEDS LRVIQHNALE DRSISDKQQW DAAIYFMEEA LQARLKDTEN 
AIENMVGPDW KKRWLYWKNR TQEQCVHNET KNELEKMLKC NEEHPAYLAS DEITTVRKNL 
ESRGVEVDPS LIKDTWHQVY RRHFLKTALN HCNLCRRGFY YYQRHFVDSE LECNDVVLFW 
RIQRMLAITA NTLRQQLTNT EVRRLEKNVK EVLEDFAEDG EKKIKLLTGK RVQLAEDLKK 
VREIQEKLDA FIEALHQEK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.