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Protein

Dynamin-like 120 kDa protein, mitochondrial

Gene

OPA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusion barrier for proteins stored in mitochondrial cristae. 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. May also play a role in mitochondrial genome maintenance.By similarity2 Publications
Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation of mitochondrial fusion.1 Publication

Catalytic activityi

GTP + H2O = GDP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi295 – 302GTPSequence analysis8
Nucleotide bindingi398 – 402GTPSequence analysis5
Nucleotide bindingi467 – 470GTPSequence analysis4

GO - Molecular functioni

  • GTPase activity Source: UniProtKB
  • GTP binding Source: UniProtKB-KW
  • magnesium ion binding Source: UniProtKB
  • microtubule binding Source: GO_Central

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • axonal transport of mitochondrion Source: UniProtKB
  • cellular senescence Source: UniProtKB
  • dynamin family protein polymerization involved in mitochondrial fission Source: GO_Central
  • inner mitochondrial membrane organization Source: UniProtKB
  • mitochondrial fission Source: UniProtKB
  • mitochondrial fusion Source: UniProtKB
  • mitochondrial genome maintenance Source: UniProtKB
  • mitochondrion organization Source: UniProtKB
  • negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway Source: ParkinsonsUK-UCL
  • negative regulation of release of cytochrome c from mitochondria Source: UniProtKB
  • positive regulation of dendrite development Source: Ensembl
  • positive regulation of mitochondrial fusion Source: Ensembl
  • positive regulation of neuron maturation Source: Ensembl
  • visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Apoptosis, Sensory transduction, Vision

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:G66-32818-MONOMER.
ReactomeiR-HSA-169911. Regulation of Apoptosis.

Protein family/group databases

TCDBi9.B.25.2.1. the mitochondrial inner/outer membrane fusion (mmf) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Dynamin-like 120 kDa protein, mitochondrial (EC:3.6.5.5)
Alternative name(s):
Optic atrophy protein 1
Cleaved into the following chain:
Gene namesi
Name:OPA1
Synonyms:KIAA0567
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:8140. OPA1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini88 – 96Mitochondrial matrixBy similarity9
Transmembranei97 – 113HelicalSequence analysisAdd BLAST17
Topological domaini114 – 960Mitochondrial intermembraneBy similarityAdd BLAST847

GO - Cellular componenti

  • axon cytoplasm Source: GOC
  • cytoplasm Source: HPA
  • dendrite Source: UniProtKB
  • extrinsic component of mitochondrial inner membrane Source: Ensembl
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
  • mitochondrial crista Source: UniProtKB
  • mitochondrial inner membrane Source: ParkinsonsUK-UCL
  • mitochondrial intermembrane space Source: UniProtKB
  • mitochondrial outer membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Optic atrophy 1 (OPA1)19 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density.
See also OMIM:165500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0608258A → S in OPA1. 1 PublicationCorresponds to variant rs794726939dbSNPEnsembl.1
Natural variantiVAR_02292338 – 43Missing in OPA1. 1 Publication6
Natural variantiVAR_06082680Y → C in OPA1. 1 PublicationCorresponds to variant rs151103940dbSNPEnsembl.1
Natural variantiVAR_06082795T → M in OPA1. 1 PublicationCorresponds to variant rs201214736dbSNPEnsembl.1
Natural variantiVAR_060828102Y → C in OPA1. 1 PublicationCorresponds to variant rs530896300dbSNPEnsembl.1
Natural variantiVAR_060829270E → K in OPA1. 1 Publication1
Natural variantiVAR_060830272L → P in OPA1. 1 Publication1
Natural variantiVAR_060831273D → A in OPA1. 1 Publication1
Natural variantiVAR_011483290R → Q in OPA1. 4 PublicationsCorresponds to variant rs121908375dbSNPEnsembl.1
Natural variantiVAR_060832290R → W in OPA1. 1 PublicationCorresponds to variant rs780333963dbSNPEnsembl.1
Natural variantiVAR_060833293 – 294Missing in OPA1. 1 Publication2
Natural variantiVAR_011484300G → E in OPA1. 2 PublicationsCorresponds to variant rs28939082dbSNPEnsembl.1
Natural variantiVAR_060834310Q → R in OPA1. 1 PublicationCorresponds to variant rs770966290dbSNPEnsembl.1
Natural variantiVAR_060835324 – 326Missing in OPA1. 1 Publication3
Natural variantiVAR_072125330T → S in OPA1. 1 Publication1
Natural variantiVAR_060836357A → T in DOA+ and OPA1. 2 PublicationsCorresponds to variant rs190223702dbSNPEnsembl.1
Natural variantiVAR_072126377V → I in OPA1. 1 PublicationCorresponds to variant rs780922750dbSNPEnsembl.1
Natural variantiVAR_060837382I → M in OPA1 and BEHRS. 3 PublicationsCorresponds to variant rs143319805dbSNPEnsembl.1
Natural variantiVAR_060838384L → F in OPA1. 1 Publication1
Natural variantiVAR_060839396L → P in OPA1. 1 Publication1
Natural variantiVAR_022927396L → R in OPA1. 1 PublicationCorresponds to variant rs727504060dbSNPEnsembl.1
Natural variantiVAR_067355400P → A in OPA1. 1 Publication1
Natural variantiVAR_060840429 – 430Missing in OPA1. 1 Publication2
Natural variantiVAR_060841430N → D in OPA1. 1 Publication1
Natural variantiVAR_011485432Missing in OPA1. 2 Publications1
Natural variantiVAR_060842438D → V in OPA1. 1 Publication1
Natural variantiVAR_072127439G → V in DOA+ and OPA1. 2 PublicationsCorresponds to variant rs387906900dbSNPEnsembl.1
Natural variantiVAR_015741445R → H in DOA+ and OPA1. 4 PublicationsCorresponds to variant rs80356529dbSNPEnsembl.1
Natural variantiVAR_060843449T → R in OPA1. 1 Publication1
Natural variantiVAR_072129459G → E in OPA1. 1 Publication1
Natural variantiVAR_060844463I → IFIF in OPA1. 1
Natural variantiVAR_060845468K → E in OPA1. 1 Publication1
Natural variantiVAR_060846470D → G in OPA1. 1 Publication1
Natural variantiVAR_060847487E → K in OPA1 and BEHRS. 2 Publications1
Natural variantiVAR_022928503T → K in OPA1. 2 Publications1
Natural variantiVAR_060848505K → N in OPA1. 1 Publication1
Natural variantiVAR_026533545S → R in DOA+ and OPA1. 4 PublicationsCorresponds to variant rs398124298dbSNPEnsembl.1
Natural variantiVAR_060851551C → Y in OPA1 and DOA+. 2 Publications1
Natural variantiVAR_060850551Missing in OPA1. 1 Publication1
Natural variantiVAR_022929571R → H in OPA1. 1 PublicationCorresponds to variant rs140606054dbSNPEnsembl.1
Natural variantiVAR_060852574L → P in OPA1. 1 Publication1
Natural variantiVAR_022930586 – 589Missing in OPA1. 1 Publication4
Natural variantiVAR_060854590R → Q in OPA1. 1 PublicationCorresponds to variant rs147077380dbSNPEnsembl.1
Natural variantiVAR_060855590R → W in OPA1. 1 PublicationCorresponds to variant rs778998909dbSNPEnsembl.1
Natural variantiVAR_060856593L → P in OPA1. 1 Publication1
Natural variantiVAR_072131593Missing in OPA1. 1 Publication1
Natural variantiVAR_060857646S → L in OPA1. 1 Publication1
Natural variantiVAR_060858700 – 701Missing in OPA1. 1 Publication2
Natural variantiVAR_060859728N → K in OPA1. 1 Publication1
Natural variantiVAR_060860768G → D in OPA1. 1 Publication1
Natural variantiVAR_060861781R → W in OPA1. 1 PublicationCorresponds to variant rs190235251dbSNPEnsembl.1
Natural variantiVAR_060862785Q → R in OPA1. 2 Publications1
Natural variantiVAR_060863823S → Y in OPA1. 1 Publication1
Natural variantiVAR_060864841Y → C in OPA1. 1 Publication1
Natural variantiVAR_060865882R → L in OPA1. 1 Publication1
Natural variantiVAR_060866887L → P in OPA1. 1 Publication1
Natural variantiVAR_072133910Missing in OPA1. 1 Publication1
Natural variantiVAR_060868932R → C in OPA1. 2 PublicationsCorresponds to variant rs145710079dbSNPEnsembl.1
Natural variantiVAR_028370939L → P in OPA1. 1 Publication1
Natural variantiVAR_060869949L → P in OPA1. 2 Publications1
Isoform 2 (identifier: O60313-2)
Natural varianti229R → H in OPA1) (Ref.27. 2 Publications1
Dominant optic atrophy plus syndrome (DOA+)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes.
See also OMIM:125250
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060836357A → T in DOA+ and OPA1. 2 PublicationsCorresponds to variant rs190223702dbSNPEnsembl.1
Natural variantiVAR_072127439G → V in DOA+ and OPA1. 2 PublicationsCorresponds to variant rs387906900dbSNPEnsembl.1
Natural variantiVAR_015741445R → H in DOA+ and OPA1. 4 PublicationsCorresponds to variant rs80356529dbSNPEnsembl.1
Natural variantiVAR_072128449T → P in DOA+. 1 Publication1
Natural variantiVAR_026533545S → R in DOA+ and OPA1. 4 PublicationsCorresponds to variant rs398124298dbSNPEnsembl.1
Natural variantiVAR_060851551C → Y in OPA1 and DOA+. 2 Publications1
Natural variantiVAR_060853582Y → C in DOA+. 1 PublicationCorresponds to variant rs121908376dbSNPEnsembl.1
Natural variantiVAR_072132910V → D in DOA+. 1 PublicationCorresponds to variant rs387906901dbSNPEnsembl.1
Behr syndrome (BEHRS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by optic atrophy beginning in early childhood associated with ataxia, pyramidal signs, spasticity, mental retardation, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade.
See also OMIM:210000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060837382I → M in OPA1 and BEHRS. 3 PublicationsCorresponds to variant rs143319805dbSNPEnsembl.1
Natural variantiVAR_075903402V → M in BEHRS. 1 Publication1
Natural variantiVAR_060847487E → K in OPA1 and BEHRS. 2 Publications1
Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder characterized by lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. Skeletal muscle biopsies show significant mtDNA depletion and abnormal mitochondria.
See also OMIM:616896
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075904534L → R in MTDPS14. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Deafness, Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi4976.
MalaCardsiOPA1.
MIMi125250. phenotype.
165500. phenotype.
210000. phenotype.
616896. phenotype.
OpenTargetsiENSG00000198836.
Orphaneti1215. Autosomal dominant optic atrophy plus syndrome.
98673. Autosomal dominant optic atrophy, classic type.
PharmGKBiPA31927.

Polymorphism and mutation databases

BioMutaiOPA1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 87MitochondrionBy similarityAdd BLAST87
ChainiPRO_000000739788 – 960Dynamin-like 120 kDa protein, mitochondrialAdd BLAST873
ChainiPRO_0000253479195 – 960Dynamin-like 120 kDa protein, form S1By similarityAdd BLAST766

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei228N6-acetyllysineCombined sources1

Post-translational modificationi

PARL-dependent proteolytic processing releases an antiapoptotic soluble form not required for mitochondrial fusion. Cleaved by OMA1 at position S1 following stress conditions.1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

EPDiO60313.
MaxQBiO60313.
PaxDbiO60313.
PeptideAtlasiO60313.
PRIDEiO60313.

PTM databases

iPTMnetiO60313.
PhosphoSitePlusiO60313.
SwissPalmiO60313.

Miscellaneous databases

PMAP-CutDBO60313.

Expressioni

Tissue specificityi

Highly expressed in retina. Also expressed in brain, testis, heart and skeletal muscle. Isoform 1 expressed in retina, skeletal muscle, heart, lung, ovary, colon, thyroid gland, leukocytes and fetal brain. Isoform 2 expressed in colon, liver, kidney, thyroid gland and leukocytes. Low levels of all isoforms expressed in a variety of tissues.3 Publications

Gene expression databases

BgeeiENSG00000198836.
CleanExiHS_OPA1.
ExpressionAtlasiO60313. baseline and differential.
GenevisibleiO60313. HS.

Organism-specific databases

HPAiHPA036926.
HPA036927.

Interactioni

Subunit structurei

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. Interacts with PRELID1.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BNIP3Q1298310EBI-1054131,EBI-749464
LRRK2Q5S0073EBI-1054131,EBI-5323863
SIRT3Q9NTG73EBI-1054131,EBI-724621

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111024. 41 interactors.
IntActiO60313. 12 interactors.
MINTiMINT-4991595.
STRINGi9606.ENSP00000354681.

Structurei

3D structure databases

ProteinModelPortaliO60313.
SMRiO60313.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini285 – 561Dynamin-type GAdd BLAST277

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili210 – 254Sequence analysisAdd BLAST45
Coiled coili895 – 960Sequence analysisAdd BLAST66

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0447. Eukaryota.
COG0699. LUCA.
GeneTreeiENSGT00550000074851.
HOGENOMiHOG000230714.
HOVERGENiHBG019108.
InParanoidiO60313.
KOiK17079.
PhylomeDBiO60313.
TreeFamiTF314250.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR001401. Dynamin_GTPase.
IPR022812. Dynamin_SF.
IPR030381. G_DYNAMIN_dom.
IPR033047. Opa1.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11566. PTHR11566. 1 hit.
PTHR11566:SF67. PTHR11566:SF67. 1 hit.
PfamiPF00350. Dynamin_N. 1 hit.
[Graphical view]
PRINTSiPR00195. DYNAMIN.
SMARTiSM00053. DYNc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51718. G_DYNAMIN_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60313-1) [UniParc]FASTAAdd to basket
Also known as: 6

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWRLRRAAVA CEVCQSLVKH SSGIKGSLPL QKLHLVSRSI YHSHHPTLKL
60 70 80 90 100
QRPQLRTSFQ QFSSLTNLPL RKLKFSPIKY GYQPRRNFWP ARLATRLLKL
110 120 130 140 150
RYLILGSAVG GGYTAKKTFD QWKDMIPDLS EYKWIVPDIV WEIDEYIDFE
160 170 180 190 200
KIRKALPSSE DLVKLAPDFD KIVESLSLLK DFFTSGSPEE TAFRATDRGS
210 220 230 240 250
ESDKHFRKVS DKEKIDQLQE ELLHTQLKYQ RILERLEKEN KELRKLVLQK
260 270 280 290 300
DDKGIHHRKL KKSLIDMYSE VLDVLSDYDA SYNTQDHLPR VVVVGDQSAG
310 320 330 340 350
KTSVLEMIAQ ARIFPRGSGE MMTRSPVKVT LSEGPHHVAL FKDSSREFDL
360 370 380 390 400
TKEEDLAALR HEIELRMRKN VKEGCTVSPE TISLNVKGPG LQRMVLVDLP
410 420 430 440 450
GVINTVTSGM APDTKETIFS ISKAYMQNPN AIILCIQDGS VDAERSIVTD
460 470 480 490 500
LVSQMDPHGR RTIFVLTKVD LAEKNVASPS RIQQIIEGKL FPMKALGYFA
510 520 530 540 550
VVTGKGNSSE SIEAIREYEE EFFQNSKLLK TSMLKAHQVT TRNLSLAVSD
560 570 580 590 600
CFWKMVRESV EQQADSFKAT RFNLETEWKN NYPRLRELDR NELFEKAKNE
610 620 630 640 650
ILDEVISLSQ VTPKHWEEIL QQSLWERVST HVIENIYLPA AQTMNSGTFN
660 670 680 690 700
TTVDIKLKQW TDKQLPNKAV EVAWETLQEE FSRFMTEPKG KEHDDIFDKL
710 720 730 740 750
KEAVKEESIK RHKWNDFAED SLRVIQHNAL EDRSISDKQQ WDAAIYFMEE
760 770 780 790 800
ALQARLKDTE NAIENMVGPD WKKRWLYWKN RTQEQCVHNE TKNELEKMLK
810 820 830 840 850
CNEEHPAYLA SDEITTVRKN LESRGVEVDP SLIKDTWHQV YRRHFLKTAL
860 870 880 890 900
NHCNLCRRGF YYYQRHFVDS ELECNDVVLF WRIQRMLAIT ANTLRQQLTN
910 920 930 940 950
TEVRRLEKNV KEVLEDFAED GEKKIKLLTG KRVQLAEDLK KVREIQEKLD
960
AFIEALHQEK
Length:960
Mass (Da):111,631
Last modified:November 25, 2008 - v3
Checksum:i1C397109787AEB4D
GO
Isoform 2 (identifier: O60313-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     209-209: V → GLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQKRKV

Note: Proteolytic processing near Gln-220 produces form S2 (PubMed:16778770).2 Publications
Show »
Length:997
Mass (Da):115,884
Checksum:i5D1F6B9BF800F35E
GO

Sequence cautioni

The sequence AF416919 differs from that shown.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0608258A → S in OPA1. 1 PublicationCorresponds to variant rs794726939dbSNPEnsembl.1
Natural variantiVAR_02292338 – 43Missing in OPA1. 1 Publication6
Natural variantiVAR_06082680Y → C in OPA1. 1 PublicationCorresponds to variant rs151103940dbSNPEnsembl.1
Natural variantiVAR_06082795T → M in OPA1. 1 PublicationCorresponds to variant rs201214736dbSNPEnsembl.1
Natural variantiVAR_060828102Y → C in OPA1. 1 PublicationCorresponds to variant rs530896300dbSNPEnsembl.1
Natural variantiVAR_022924158S → N.7 PublicationsCorresponds to variant rs7624750dbSNPEnsembl.1
Natural variantiVAR_022925167P → L.1 Publication1
Natural variantiVAR_022926192A → V.3 PublicationsCorresponds to variant rs34307082dbSNPEnsembl.1
Natural variantiVAR_060829270E → K in OPA1. 1 Publication1
Natural variantiVAR_060830272L → P in OPA1. 1 Publication1
Natural variantiVAR_060831273D → A in OPA1. 1 Publication1
Natural variantiVAR_011483290R → Q in OPA1. 4 PublicationsCorresponds to variant rs121908375dbSNPEnsembl.1
Natural variantiVAR_060832290R → W in OPA1. 1 PublicationCorresponds to variant rs780333963dbSNPEnsembl.1
Natural variantiVAR_060833293 – 294Missing in OPA1. 1 Publication2
Natural variantiVAR_011484300G → E in OPA1. 2 PublicationsCorresponds to variant rs28939082dbSNPEnsembl.1
Natural variantiVAR_060834310Q → R in OPA1. 1 PublicationCorresponds to variant rs770966290dbSNPEnsembl.1
Natural variantiVAR_060835324 – 326Missing in OPA1. 1 Publication3
Natural variantiVAR_072125330T → S in OPA1. 1 Publication1
Natural variantiVAR_060836357A → T in DOA+ and OPA1. 2 PublicationsCorresponds to variant rs190223702dbSNPEnsembl.1
Natural variantiVAR_072126377V → I in OPA1. 1 PublicationCorresponds to variant rs780922750dbSNPEnsembl.1
Natural variantiVAR_060837382I → M in OPA1 and BEHRS. 3 PublicationsCorresponds to variant rs143319805dbSNPEnsembl.1
Natural variantiVAR_060838384L → F in OPA1. 1 Publication1
Natural variantiVAR_060839396L → P in OPA1. 1 Publication1
Natural variantiVAR_022927396L → R in OPA1. 1 PublicationCorresponds to variant rs727504060dbSNPEnsembl.1
Natural variantiVAR_067355400P → A in OPA1. 1 Publication1
Natural variantiVAR_075903402V → M in BEHRS. 1 Publication1
Natural variantiVAR_060840429 – 430Missing in OPA1. 1 Publication2
Natural variantiVAR_060841430N → D in OPA1. 1 Publication1
Natural variantiVAR_011485432Missing in OPA1. 2 Publications1
Natural variantiVAR_060842438D → V in OPA1. 1 Publication1
Natural variantiVAR_072127439G → V in DOA+ and OPA1. 2 PublicationsCorresponds to variant rs387906900dbSNPEnsembl.1
Natural variantiVAR_015741445R → H in DOA+ and OPA1. 4 PublicationsCorresponds to variant rs80356529dbSNPEnsembl.1
Natural variantiVAR_072128449T → P in DOA+. 1 Publication1
Natural variantiVAR_060843449T → R in OPA1. 1 Publication1
Natural variantiVAR_072129459G → E in OPA1. 1 Publication1
Natural variantiVAR_060844463I → IFIF in OPA1. 1
Natural variantiVAR_060845468K → E in OPA1. 1 Publication1
Natural variantiVAR_060846470D → G in OPA1. 1 Publication1
Natural variantiVAR_060847487E → K in OPA1 and BEHRS. 2 Publications1
Natural variantiVAR_072130502V → G.1 Publication1
Natural variantiVAR_022928503T → K in OPA1. 2 Publications1
Natural variantiVAR_060848505K → N in OPA1. 1 Publication1
Natural variantiVAR_075904534L → R in MTDPS14. 1 Publication1
Natural variantiVAR_026533545S → R in DOA+ and OPA1. 4 PublicationsCorresponds to variant rs398124298dbSNPEnsembl.1
Natural variantiVAR_060849550D → N.1 Publication1
Natural variantiVAR_060851551C → Y in OPA1 and DOA+. 2 Publications1
Natural variantiVAR_060850551Missing in OPA1. 1 Publication1
Natural variantiVAR_022929571R → H in OPA1. 1 PublicationCorresponds to variant rs140606054dbSNPEnsembl.1
Natural variantiVAR_060852574L → P in OPA1. 1 Publication1
Natural variantiVAR_060853582Y → C in DOA+. 1 PublicationCorresponds to variant rs121908376dbSNPEnsembl.1
Natural variantiVAR_022930586 – 589Missing in OPA1. 1 Publication4
Natural variantiVAR_060854590R → Q in OPA1. 1 PublicationCorresponds to variant rs147077380dbSNPEnsembl.1
Natural variantiVAR_060855590R → W in OPA1. 1 PublicationCorresponds to variant rs778998909dbSNPEnsembl.1
Natural variantiVAR_060856593L → P in OPA1. 1 Publication1
Natural variantiVAR_072131593Missing in OPA1. 1 Publication1
Natural variantiVAR_060857646S → L in OPA1. 1 Publication1
Natural variantiVAR_060858700 – 701Missing in OPA1. 1 Publication2
Natural variantiVAR_060859728N → K in OPA1. 1 Publication1
Natural variantiVAR_060860768G → D in OPA1. 1 Publication1
Natural variantiVAR_060861781R → W in OPA1. 1 PublicationCorresponds to variant rs190235251dbSNPEnsembl.1
Natural variantiVAR_060862785Q → R in OPA1. 2 Publications1
Natural variantiVAR_060863823S → Y in OPA1. 1 Publication1
Natural variantiVAR_060864841Y → C in OPA1. 1 Publication1
Natural variantiVAR_060865882R → L in OPA1. 1 Publication1
Natural variantiVAR_060866887L → P in OPA1. 1 Publication1
Natural variantiVAR_060867907E → G.1 Publication1
Natural variantiVAR_072132910V → D in DOA+. 1 PublicationCorresponds to variant rs387906901dbSNPEnsembl.1
Natural variantiVAR_072133910Missing in OPA1. 1 Publication1
Natural variantiVAR_060868932R → C in OPA1. 2 PublicationsCorresponds to variant rs145710079dbSNPEnsembl.1
Natural variantiVAR_028370939L → P in OPA1. 1 Publication1
Natural variantiVAR_060869949L → P in OPA1. 2 Publications1
Isoform 2 (identifier: O60313-2)
Natural varianti229R → H in OPA1) (Ref.27. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_021035209V → GLLGELILLQQQIQEHEEEA RRAAGQYSTSYAQQKRKV in isoform 2. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011139 mRNA. Translation: BAA25493.1.
HQ204906 Genomic DNA. Translation: ADP90057.1.
HQ204907 Genomic DNA. Translation: ADP90065.1.
HQ204908 Genomic DNA. Translation: ADP90073.1.
HQ204910 Genomic DNA. Translation: ADP90089.1.
HQ204911 Genomic DNA. Translation: ADP90097.1.
HQ204912 Genomic DNA. Translation: ADP90105.1.
HQ204913 Genomic DNA. Translation: ADP90113.1.
HQ204914 Genomic DNA. Translation: ADP90121.1.
HQ204917 Genomic DNA. Translation: ADP90145.1.
HQ204918 Genomic DNA. Translation: ADP90153.1.
HQ204920 Genomic DNA. Translation: ADP90169.1.
HQ204921 Genomic DNA. Translation: ADP90177.1.
HQ204922 Genomic DNA. Translation: ADP90185.1.
HQ204923 Genomic DNA. Translation: ADP90193.1.
HQ204924 Genomic DNA. Translation: ADP90201.1.
HQ204925 Genomic DNA. Translation: ADP90209.1.
HQ204926 Genomic DNA. Translation: ADP90217.1.
HQ204927 Genomic DNA. Translation: ADP90225.1.
HQ204929 Genomic DNA. Translation: ADP90241.1.
HQ204930 Genomic DNA. Translation: ADP90249.1.
HQ204932 Genomic DNA. Translation: ADP90265.1.
HQ204933 Genomic DNA. Translation: ADP90273.1.
HQ204934 Genomic DNA. Translation: ADP90281.1.
HQ204935 Genomic DNA. Translation: ADP90289.1.
HQ204936 Genomic DNA. Translation: ADP90297.1.
HQ204938 Genomic DNA. Translation: ADP90313.1.
HQ204939 Genomic DNA. Translation: ADP90321.1.
HQ204940 Genomic DNA. Translation: ADP90329.1.
HQ204941 Genomic DNA. Translation: ADP90337.1.
HQ204942 Genomic DNA. Translation: ADP90345.1.
HQ204943 Genomic DNA. Translation: ADP90353.1.
HQ204944 Genomic DNA. Translation: ADP90361.1.
HQ204945 Genomic DNA. Translation: ADP90369.1.
AC048351 Genomic DNA. No translation available.
AC106710 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78064.1.
CH471052 Genomic DNA. Translation: EAW78071.1.
BC075805 mRNA. Translation: AAH75805.1.
AF416919 Genomic DNA. No translation available.
AF416920 Genomic DNA. No translation available.
CCDSiCCDS33917.1. [O60313-2]
CCDS43186.1. [O60313-1]
PIRiT00336.
RefSeqiNP_056375.2. NM_015560.2. [O60313-1]
UniGeneiHs.594504.

Genome annotation databases

EnsembliENST00000361908; ENSP00000354681; ENSG00000198836. [O60313-2]
ENST00000392438; ENSP00000376233; ENSG00000198836. [O60313-1]
GeneIDi4976.
KEGGihsa:4976.
UCSCiuc003fti.3. human. [O60313-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011139 mRNA. Translation: BAA25493.1.
HQ204906 Genomic DNA. Translation: ADP90057.1.
HQ204907 Genomic DNA. Translation: ADP90065.1.
HQ204908 Genomic DNA. Translation: ADP90073.1.
HQ204910 Genomic DNA. Translation: ADP90089.1.
HQ204911 Genomic DNA. Translation: ADP90097.1.
HQ204912 Genomic DNA. Translation: ADP90105.1.
HQ204913 Genomic DNA. Translation: ADP90113.1.
HQ204914 Genomic DNA. Translation: ADP90121.1.
HQ204917 Genomic DNA. Translation: ADP90145.1.
HQ204918 Genomic DNA. Translation: ADP90153.1.
HQ204920 Genomic DNA. Translation: ADP90169.1.
HQ204921 Genomic DNA. Translation: ADP90177.1.
HQ204922 Genomic DNA. Translation: ADP90185.1.
HQ204923 Genomic DNA. Translation: ADP90193.1.
HQ204924 Genomic DNA. Translation: ADP90201.1.
HQ204925 Genomic DNA. Translation: ADP90209.1.
HQ204926 Genomic DNA. Translation: ADP90217.1.
HQ204927 Genomic DNA. Translation: ADP90225.1.
HQ204929 Genomic DNA. Translation: ADP90241.1.
HQ204930 Genomic DNA. Translation: ADP90249.1.
HQ204932 Genomic DNA. Translation: ADP90265.1.
HQ204933 Genomic DNA. Translation: ADP90273.1.
HQ204934 Genomic DNA. Translation: ADP90281.1.
HQ204935 Genomic DNA. Translation: ADP90289.1.
HQ204936 Genomic DNA. Translation: ADP90297.1.
HQ204938 Genomic DNA. Translation: ADP90313.1.
HQ204939 Genomic DNA. Translation: ADP90321.1.
HQ204940 Genomic DNA. Translation: ADP90329.1.
HQ204941 Genomic DNA. Translation: ADP90337.1.
HQ204942 Genomic DNA. Translation: ADP90345.1.
HQ204943 Genomic DNA. Translation: ADP90353.1.
HQ204944 Genomic DNA. Translation: ADP90361.1.
HQ204945 Genomic DNA. Translation: ADP90369.1.
AC048351 Genomic DNA. No translation available.
AC106710 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78064.1.
CH471052 Genomic DNA. Translation: EAW78071.1.
BC075805 mRNA. Translation: AAH75805.1.
AF416919 Genomic DNA. No translation available.
AF416920 Genomic DNA. No translation available.
CCDSiCCDS33917.1. [O60313-2]
CCDS43186.1. [O60313-1]
PIRiT00336.
RefSeqiNP_056375.2. NM_015560.2. [O60313-1]
UniGeneiHs.594504.

3D structure databases

ProteinModelPortaliO60313.
SMRiO60313.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111024. 41 interactors.
IntActiO60313. 12 interactors.
MINTiMINT-4991595.
STRINGi9606.ENSP00000354681.

Protein family/group databases

TCDBi9.B.25.2.1. the mitochondrial inner/outer membrane fusion (mmf) family.

PTM databases

iPTMnetiO60313.
PhosphoSitePlusiO60313.
SwissPalmiO60313.

Polymorphism and mutation databases

BioMutaiOPA1.

Proteomic databases

EPDiO60313.
MaxQBiO60313.
PaxDbiO60313.
PeptideAtlasiO60313.
PRIDEiO60313.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361908; ENSP00000354681; ENSG00000198836. [O60313-2]
ENST00000392438; ENSP00000376233; ENSG00000198836. [O60313-1]
GeneIDi4976.
KEGGihsa:4976.
UCSCiuc003fti.3. human. [O60313-1]

Organism-specific databases

CTDi4976.
DisGeNETi4976.
GeneCardsiOPA1.
GeneReviewsiOPA1.
HGNCiHGNC:8140. OPA1.
HPAiHPA036926.
HPA036927.
MalaCardsiOPA1.
MIMi125250. phenotype.
165500. phenotype.
210000. phenotype.
605290. gene.
616896. phenotype.
neXtProtiNX_O60313.
OpenTargetsiENSG00000198836.
Orphaneti1215. Autosomal dominant optic atrophy plus syndrome.
98673. Autosomal dominant optic atrophy, classic type.
PharmGKBiPA31927.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0447. Eukaryota.
COG0699. LUCA.
GeneTreeiENSGT00550000074851.
HOGENOMiHOG000230714.
HOVERGENiHBG019108.
InParanoidiO60313.
KOiK17079.
PhylomeDBiO60313.
TreeFamiTF314250.

Enzyme and pathway databases

BioCyciZFISH:G66-32818-MONOMER.
ReactomeiR-HSA-169911. Regulation of Apoptosis.

Miscellaneous databases

ChiTaRSiOPA1. human.
GeneWikiiOptic_atrophy_1.
GenomeRNAii4976.
PMAP-CutDBO60313.
PROiO60313.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198836.
CleanExiHS_OPA1.
ExpressionAtlasiO60313. baseline and differential.
GenevisibleiO60313. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR001401. Dynamin_GTPase.
IPR022812. Dynamin_SF.
IPR030381. G_DYNAMIN_dom.
IPR033047. Opa1.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11566. PTHR11566. 1 hit.
PTHR11566:SF67. PTHR11566:SF67. 1 hit.
PfamiPF00350. Dynamin_N. 1 hit.
[Graphical view]
PRINTSiPR00195. DYNAMIN.
SMARTiSM00053. DYNc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51718. G_DYNAMIN_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiOPA1_HUMAN
AccessioniPrimary (citable) accession number: O60313
Secondary accession number(s): D3DNW4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 25, 2008
Last modified: November 30, 2016
This is version 161 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.