Gene: Opa1

Basic information

Tag Content
Uniprot ID P58281; A6H6Q3; Q3ULA5; Q8BKU7; Q8BLL3; Q8BM08; Q8R3J7;
Entrez ID 74143
Genbank protein ID BAC26331.1; BAB59000.1; BAC32021.1; BAC30002.1; AAH25160.1; BAC34224.1; AAI45960.1; AAI38666.1; BAE26544.1;
Genbank nucleotide ID NM_133752.3; XM_006522657.2;
Ensembl protein ID ENSMUSP00000124223; ENSMUSP00000123880;
Ensembl nucleotide ID ENSMUSG00000038084
Gene name Dynamin-like 120 kDa protein, mitochondrial
Gene symbol Opa1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 20652258
Functional description Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission (PubMed:11847212, PubMed:24616225, PubMed:26785494, PubMed:28746876). Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion (By similarity). Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation. The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes (By similarity). Plays a role in remodeling cristae and the release of cytochrome c during apoptosis (PubMed:16839884, PubMed:16839885). Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space (PubMed:16839884, PubMed:16839885). Plays a role in mitochondrial genome maintenance (By similarity).
Sequence
MWRAGRAAVA CEVCQSLVKH SSGIQRNVPL QKLHLVSRSI YRSHHPALKL QRPQLRTPFQ 60
QFSSLTHLSL HKLKLSPIKY GYQPRRNFWP ARLAARLLKL RYIILGSAVG GGYTAKKTFD 120
EWKDMIPDLS DYKWIVPDFI WEIDEYIDLE KIRKALPSSE DLASLAPDLD KITESLSLLK 180
DFFTAGSPGE TAFRATDHGS ESDKHYRKVS DKEKIDQLQE ELLHTQLKYQ RILERLEKEN 240
KELRKLVLQK DDKGIHHRKL KKSLIDMYSE VLDVLSDYDA SYNTQDHLPR VVVVGDQSAG 300
KTSVLEMIAQ ARIFPRGSGE MMTRSPVKVT LSEGPHHVAL FKDSSREFDL TKEEDLAALR 360
HEIELRMRKN VKEGCTVSPE TISLNVKGPG LQRMVLVDLP GVINTVTSGM APDTKETIFS 420
ISKAYMQNPN AIILCIQDGS VDAERSIVTD LVSQMDPHGR RTIFVLTKVD LAEKNVASPS 480
RIQQIIEGKL FPMKALGYFA VVTGKGNSSE SIEAIREYEE EFFQNSKLLK TSMLKAHQVT 540
TRNLSLAVSD CFWKMVRESV EQQADSFKAT RFNLETEWKN NYPRLRELDR NELFEKAKNE 600
ILDEVISLSQ VTPKHWEEIL QQSLWERVST HVIENIYLPA AQTMNSGTFN TTVDIKLKQW 660
TDKQLPNKAV EVAWETLQEE FSRFMTEPKG KEHDDIFDKL KEAVKEESIK RHKWNDFAED 720
SLRVIQHNAL EDRSISDKQQ WDAAIYFMEE ALQGRLKDTE NAIENMIGPD WKKRWMYWKN 780
RTQEQCVHNE TKNELEKMLK VNDEHPAYLA SDEITTVRKN LESRGVEVDP SLIKDTWHQV 840
YRRHFLKTAL NHCNLCRRGF YYYQRHFIDS ELECNDVVLF WRIQRMLAIT ANTLRQQLTN 900
TEVRRLEKNV KEVLEDFAED GEKKVKLLTG KRVQLAEDLK KVREIQEKLD AFIEALHQEK 960

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologOPA1524142A0A3Q1LJL3Bos taurusPredictionMore>>
1:1 orthologOPA1A0A452EKZ3Capra hircusPredictionMore>>
1:1 orthologOPA1100059993F6Z2C8Equus caballusPredictionMore>>
1:1 orthologOPA14976O60313Homo sapiensPredictionMore>>
1:1 orthologOpa174143P58281CPOMus musculusPublicationMore>>
1:1 orthologOPA1A0A2I3RGT4Pan troglodytesPredictionMore>>
1:1 orthologOpa1171116Q2TA68Rattus norvegicusPredictionMore>>
1:1 orthologopa1492332Q5U3A7Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003924 GTPase activityISS
GO:0003924 GTPase activityISO
GO:0003924 GTPase activityTAS
GO:0003924 GTPase activityIBA
GO:0005515 protein bindingIPI
GO:0005525 GTP bindingIEA
GO:0008017 microtubule bindingIBA
GO:0019900 kinase bindingISO
GO:0044877 protein-containing complex bindingISO
GO:0070300 phosphatidic acid bindingISS
GO:0070300 phosphatidic acid bindingISO
GO:1901612 cardiolipin bindingISS
GO:1901612 cardiolipin bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0000002 mitochondrial genome maintenanceISS
GO:0000002 mitochondrial genome maintenanceISO
GO:0000266 mitochondrial fissionIBA
GO:0001843 neural tube closureIMP
GO:0006915 apoptotic processIEA
GO:0007005 mitochondrion organizationISO
GO:0007005 mitochondrion organizationNAS
GO:0007007 inner mitochondrial membrane organizationISS
GO:0007007 inner mitochondrial membrane organizationISO
GO:0007601 visual perceptionISS
GO:0007601 visual perceptionISO
GO:0008053 mitochondrial fusionISS
GO:0008053 mitochondrial fusionISO
GO:0008053 mitochondrial fusionIMP
GO:0010636 positive regulation of mitochondrial fusionISO
GO:0014042 positive regulation of neuron maturationISO
GO:0036444 calcium import into the mitochondrionISO
GO:0043066 negative regulation of apoptotic processISS
GO:0043066 negative regulation of apoptotic processISO
GO:0046039 GTP metabolic processISS
GO:0046039 GTP metabolic processISO
GO:0046628 positive regulation of insulin receptor signaling pathwayISO
GO:0048285 organelle fissionIBA
GO:0048312 intracellular distribution of mitochondriaISO
GO:0051259 protein complex oligomerizationISO
GO:0061003 positive regulation of dendritic spine morphogenesisISO
GO:0061025 membrane fusionIBA
GO:0070584 mitochondrion morphogenesisISO
GO:0090201 negative regulation of release of cytochrome c from mitochondriaISO
GO:0090201 negative regulation of release of cytochrome c from mitochondriaIMP
GO:0090398 cellular senescenceISO
GO:0097749 membrane tubulationISS
GO:0097749 membrane tubulationISO
GO:1900006 positive regulation of dendrite developmentISO
GO:1900078 positive regulation of cellular response to insulin stimulusISO
GO:1902236 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayISO
GO:1902236 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayIMP
GO:2001243 negative regulation of intrinsic apoptotic signaling pathwayIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005654 nucleoplasmISO
GO:0005737 cytoplasmIBA
GO:0005739 mitochondrionISO
GO:0005739 mitochondrionIDA
GO:0005739 mitochondrionHDA
GO:0005739 mitochondrionIBA
GO:0005741 mitochondrial outer membraneISS
GO:0005741 mitochondrial outer membraneISO
GO:0005743 mitochondrial inner membraneHDA
GO:0005743 mitochondrial inner membraneIMP
GO:0005743 mitochondrial inner membraneIDA
GO:0005758 mitochondrial intermembrane spaceISO
GO:0005758 mitochondrial intermembrane spaceIDA
GO:0005829 cytosolISO
GO:0005886 plasma membraneIBA
GO:0015630 microtubule cytoskeletonIBA
GO:0016020 membraneIBA
GO:0016021 integral component of membraneIEA
GO:0030061 mitochondrial cristaISS
GO:0030061 mitochondrial cristaISO
GO:0030425 dendriteIDA
GO:0031314 extrinsic component of mitochondrial inner membraneISO
GO:0031410 cytoplasmic vesicleIBA
GO:0031966 mitochondrial membraneIBA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-109581 ApoptosisIEA
R-MMU-169911 Regulation of ApoptosisIEA
R-MMU-5357801 Programmed Cell DeathIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0025 Alternative splicing
KW-0053 Apoptosis
KW-0175 Coiled coil
KW-0342 GTP-binding
KW-0378 Hydrolase
KW-0446 Lipid-binding
KW-0472 Membrane
KW-0496 Mitochondrion
KW-0999 Mitochondrion inner membrane
KW-0547 Nucleotide-binding
KW-1185 Reference proteome
KW-0716 Sensory transduction
KW-0809 Transit peptide
KW-0812 Transmembrane
KW-1133 Transmembrane helix
KW-0844 Vision

Interpro

InterPro ID InterPro Term
IPR001401 Dynamin_GTPase
IPR022812 Dynamin_SF
IPR030381 G_DYNAMIN_dom
IPR033047 Opa1
IPR027417 P-loop_NTPase

PROSITE

PROSITE ID PROSITE Term
PS51718 G_DYNAMIN_2

Pfam

Pfam ID Pfam Term
PF00350 Dynamin_N

Protein-protein interaction

Protein-miRNA interaction