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O60313

- OPA1_HUMAN

UniProt

O60313 - OPA1_HUMAN

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Protein
Dynamin-like 120 kDa protein, mitochondrial
Gene
OPA1, KIAA0567
Organism
Homo sapiens (Human)
Status
Reviewed - 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.2 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.2 Publications

Catalytic activityi

GTP + H2O = GDP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi295 – 3028GTP Reviewed prediction
Nucleotide bindingi398 – 4025GTP Reviewed prediction
Nucleotide bindingi467 – 4704GTP Reviewed prediction

GO - Molecular functioni

  1. GTP binding Source: UniProtKB-KW
  2. GTPase activity Source: UniProtKB
  3. magnesium ion binding Source: UniProtKB
  4. protein binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. GTP catabolic process Source: GOC
  2. apoptotic process Source: UniProtKB-KW
  3. axon transport of mitochondrion Source: UniProtKB
  4. cellular senescence Source: UniProtKB
  5. inner mitochondrial membrane organization Source: UniProtKB
  6. mitochondrial fission Source: UniProtKB
  7. mitochondrial fusion Source: UniProtKB
  8. mitochondrion organization Source: UniProtKB
  9. negative regulation of release of cytochrome c from mitochondria Source: UniProtKB
  10. neural tube closure Source: Ensembl
  11. visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Apoptosis, Sensory transduction, Vision

Keywords - Ligandi

GTP-binding, Nucleotide-binding

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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:8140. OPA1.

Subcellular locationi

Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion intermembrane space 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini88 – 969Mitochondrial matrix By similarity
Transmembranei97 – 11317Helical; Reviewed prediction
Add
BLAST
Topological domaini114 – 960847Mitochondrial intermembrane By similarity
Add
BLAST

GO - Cellular componenti

  1. dendrite Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
  3. mitochondrial crista Source: UniProtKB
  4. mitochondrial inner membrane Source: BHF-UCL
  5. mitochondrial intermembrane space Source: UniProtKB
  6. mitochondrial outer membrane Source: UniProtKB
  7. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Optic atrophy 1 (OPA1) [MIM:165500]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.14 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81A → S in OPA1. 1 Publication
VAR_060825
Natural varianti38 – 436Missing in OPA1.
VAR_022923
Natural varianti80 – 801Y → C in OPA1. 1 Publication
Corresponds to variant rs151103940 [ dbSNP | Ensembl ].
VAR_060826
Natural varianti95 – 951T → M in OPA1. 1 Publication
VAR_060827
Natural varianti102 – 1021Y → C in OPA1. 1 Publication
VAR_060828
Natural varianti270 – 2701E → K in OPA1. 1 Publication
VAR_060829
Natural varianti272 – 2721L → P in OPA1. 1 Publication
VAR_060830
Natural varianti273 – 2731D → A in OPA1. 1 Publication
VAR_060831
Natural varianti290 – 2901R → Q in OPA1. 4 Publications
VAR_011483
Natural varianti290 – 2901R → W in OPA1. 1 Publication
VAR_060832
Natural varianti293 – 2942Missing in OPA1.
VAR_060833
Natural varianti300 – 3001G → E in OPA1. 2 Publications
VAR_011484
Natural varianti310 – 3101Q → R in OPA1. 1 Publication
VAR_060834
Natural varianti324 – 3263Missing in OPA1.
VAR_060835
Natural varianti357 – 3571A → T in OPA1. 1 Publication
Corresponds to variant rs190223702 [ dbSNP | Ensembl ].
VAR_060836
Natural varianti382 – 3821I → M in OPA1. 1 Publication
Corresponds to variant rs143319805 [ dbSNP | Ensembl ].
VAR_060837
Natural varianti384 – 3841L → F in OPA1. 1 Publication
VAR_060838
Natural varianti396 – 3961L → P in OPA1. 1 Publication
VAR_060839
Natural varianti396 – 3961L → R in OPA1. 1 Publication
VAR_022927
Natural varianti400 – 4001P → A in OPA1. 1 Publication
VAR_067355
Natural varianti429 – 4302Missing in OPA1.
VAR_060840
Natural varianti430 – 4301N → D in OPA1. 1 Publication
VAR_060841
Natural varianti432 – 4321Missing in OPA1. 2 Publications
VAR_011485
Natural varianti438 – 4381D → V in OPA1. 1 Publication
VAR_060842
Natural varianti445 – 4451R → H in OPA1 and DOA+. 3 Publications
VAR_015741
Natural varianti449 – 4491T → R in OPA1. 1 Publication
VAR_060843
Natural varianti463 – 4631I → IFIF in OPA1.
VAR_060844
Natural varianti468 – 4681K → E in OPA1. 1 Publication
VAR_060845
Natural varianti470 – 4701D → G in OPA1. 1 Publication
VAR_060846
Natural varianti487 – 4871E → K in OPA1. 1 Publication
VAR_060847
Natural varianti503 – 5031T → K in OPA1. 2 Publications
VAR_022928
Natural varianti505 – 5051K → N in OPA1. 1 Publication
VAR_060848
Natural varianti545 – 5451S → R in OPA1. 2 Publications
VAR_026533
Natural varianti551 – 5511C → Y in OPA1. 1 Publication
VAR_060851
Natural varianti551 – 5511Missing in OPA1. 1 Publication
VAR_060850
Natural varianti571 – 5711R → H in OPA1. 1 Publication
VAR_022929
Natural varianti574 – 5741L → P in OPA1. 1 Publication
VAR_060852
Natural varianti586 – 5894Missing in OPA1.
VAR_022930
Natural varianti590 – 5901R → Q in OPA1. 1 Publication
VAR_060854
Natural varianti590 – 5901R → W in OPA1. 1 Publication
VAR_060855
Natural varianti593 – 5931L → P in OPA1. 1 Publication
VAR_060856
Natural varianti646 – 6461S → L in OPA1. 1 Publication
VAR_060857
Natural varianti700 – 7012Missing in OPA1.
VAR_060858
Natural varianti728 – 7281N → K in OPA1. 1 Publication
VAR_060859
Natural varianti768 – 7681G → D in OPA1. 1 Publication
VAR_060860
Natural varianti781 – 7811R → W in OPA1. 1 Publication
Corresponds to variant rs190235251 [ dbSNP | Ensembl ].
VAR_060861
Natural varianti785 – 7851Q → R in OPA1. 2 Publications
VAR_060862
Natural varianti823 – 8231S → Y in OPA1. 1 Publication
VAR_060863
Natural varianti841 – 8411Y → C in OPA1. 1 Publication
VAR_060864
Natural varianti882 – 8821R → L in OPA1. 1 Publication
VAR_060865
Natural varianti887 – 8871L → P in OPA1. 1 Publication
VAR_060866
Natural varianti932 – 9321R → C in OPA1. 2 Publications
VAR_060868
Natural varianti939 – 9391L → P in OPA1. 1 Publication
VAR_028370
Natural varianti949 – 9491L → P in OPA1. 1 Publication
VAR_060869
Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti445 – 4451R → H in OPA1 and DOA+. 3 Publications
VAR_015741
Natural varianti582 – 5821Y → C in DOA+. 1 Publication
VAR_060853

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

MIMi125250. phenotype.
165500. phenotype.
Orphaneti3212. Autosomal dominant optic atrophy and congenital deafness.
1215. Autosomal dominant optic atrophy plus syndrome.
98673. Autosomal dominant optic atrophy, classic type.
PharmGKBiPA31927.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 8787Mitochondrion By similarity
Add
BLAST
Chaini88 – 960873Dynamin-like 120 kDa protein, mitochondrial
PRO_0000007397Add
BLAST
Chaini195 – 960766Dynamin-like 120 kDa protein, form S1 By similarity
PRO_0000253479Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei228 – 2281N6-acetyllysine1 Publication

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.

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiO60313.
PaxDbiO60313.
PRIDEiO60313.

PTM databases

PhosphoSiteiO60313.

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

ArrayExpressiO60313.
BgeeiO60313.
CleanExiHS_OPA1.
GenevestigatoriO60313.

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

Protein-protein interaction databases

BioGridi111024. 22 interactions.
IntActiO60313. 7 interactions.
MINTiMINT-4991595.
STRINGi9606.ENSP00000354681.

Structurei

3D structure databases

ProteinModelPortaliO60313.
SMRiO60313. Positions 262-601.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini285 – 561277Dynamin-type G
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili210 – 25445 Reviewed prediction
Add
BLAST
Coiled coili895 – 96066 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0699.
HOGENOMiHOG000230714.
HOVERGENiHBG019108.
KOiK17079.
OrthoDBiEOG7TMZR4.
PhylomeDBiO60313.
TreeFamiTF314250.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR001401. Dynamin_GTPase.
IPR022812. Dynamin_SF.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11566. PTHR11566. 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. Align

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

MWRLRRAAVA CEVCQSLVKH SSGIKGSLPL QKLHLVSRSI YHSHHPTLKL    50
QRPQLRTSFQ QFSSLTNLPL RKLKFSPIKY GYQPRRNFWP ARLATRLLKL 100
RYLILGSAVG GGYTAKKTFD QWKDMIPDLS EYKWIVPDIV WEIDEYIDFE 150
KIRKALPSSE DLVKLAPDFD KIVESLSLLK DFFTSGSPEE TAFRATDRGS 200
ESDKHFRKVS DKEKIDQLQE ELLHTQLKYQ RILERLEKEN KELRKLVLQK 250
DDKGIHHRKL KKSLIDMYSE VLDVLSDYDA SYNTQDHLPR VVVVGDQSAG 300
KTSVLEMIAQ ARIFPRGSGE MMTRSPVKVT LSEGPHHVAL FKDSSREFDL 350
TKEEDLAALR HEIELRMRKN VKEGCTVSPE TISLNVKGPG LQRMVLVDLP 400
GVINTVTSGM APDTKETIFS ISKAYMQNPN AIILCIQDGS VDAERSIVTD 450
LVSQMDPHGR RTIFVLTKVD LAEKNVASPS RIQQIIEGKL FPMKALGYFA 500
VVTGKGNSSE SIEAIREYEE EFFQNSKLLK TSMLKAHQVT TRNLSLAVSD 550
CFWKMVRESV EQQADSFKAT RFNLETEWKN NYPRLRELDR NELFEKAKNE 600
ILDEVISLSQ VTPKHWEEIL QQSLWERVST HVIENIYLPA AQTMNSGTFN 650
TTVDIKLKQW TDKQLPNKAV EVAWETLQEE FSRFMTEPKG KEHDDIFDKL 700
KEAVKEESIK RHKWNDFAED SLRVIQHNAL EDRSISDKQQ WDAAIYFMEE 750
ALQARLKDTE NAIENMVGPD WKKRWLYWKN RTQEQCVHNE TKNELEKMLK 800
CNEEHPAYLA SDEITTVRKN LESRGVEVDP SLIKDTWHQV YRRHFLKTAL 850
NHCNLCRRGF YYYQRHFVDS ELECNDVVLF WRIQRMLAIT ANTLRQQLTN 900
TEVRRLEKNV KEVLEDFAED GEKKIKLLTG KRVQLAEDLK KVREIQEKLD 950
AFIEALHQEK 960
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.

Show »
Length:997
Mass (Da):115,884
Checksum:i5D1F6B9BF800F35E
GO

Sequence cautioni

The sequence AF416919 differs from that shown. Reason:

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81A → S in OPA1. 1 Publication
VAR_060825
Natural varianti38 – 436Missing in OPA1.
VAR_022923
Natural varianti80 – 801Y → C in OPA1. 1 Publication
Corresponds to variant rs151103940 [ dbSNP | Ensembl ].
VAR_060826
Natural varianti95 – 951T → M in OPA1. 1 Publication
VAR_060827
Natural varianti102 – 1021Y → C in OPA1. 1 Publication
VAR_060828
Natural varianti158 – 1581S → N.7 Publications
Corresponds to variant rs7624750 [ dbSNP | Ensembl ].
VAR_022924
Natural varianti167 – 1671P → L.1 Publication
VAR_022925
Natural varianti192 – 1921A → V.3 Publications
Corresponds to variant rs34307082 [ dbSNP | Ensembl ].
VAR_022926
Natural varianti270 – 2701E → K in OPA1. 1 Publication
VAR_060829
Natural varianti272 – 2721L → P in OPA1. 1 Publication
VAR_060830
Natural varianti273 – 2731D → A in OPA1. 1 Publication
VAR_060831
Natural varianti290 – 2901R → Q in OPA1. 4 Publications
VAR_011483
Natural varianti290 – 2901R → W in OPA1. 1 Publication
VAR_060832
Natural varianti293 – 2942Missing in OPA1.
VAR_060833
Natural varianti300 – 3001G → E in OPA1. 2 Publications
VAR_011484
Natural varianti310 – 3101Q → R in OPA1. 1 Publication
VAR_060834
Natural varianti324 – 3263Missing in OPA1.
VAR_060835
Natural varianti357 – 3571A → T in OPA1. 1 Publication
Corresponds to variant rs190223702 [ dbSNP | Ensembl ].
VAR_060836
Natural varianti382 – 3821I → M in OPA1. 1 Publication
Corresponds to variant rs143319805 [ dbSNP | Ensembl ].
VAR_060837
Natural varianti384 – 3841L → F in OPA1. 1 Publication
VAR_060838
Natural varianti396 – 3961L → P in OPA1. 1 Publication
VAR_060839
Natural varianti396 – 3961L → R in OPA1. 1 Publication
VAR_022927
Natural varianti400 – 4001P → A in OPA1. 1 Publication
VAR_067355
Natural varianti429 – 4302Missing in OPA1.
VAR_060840
Natural varianti430 – 4301N → D in OPA1. 1 Publication
VAR_060841
Natural varianti432 – 4321Missing in OPA1. 2 Publications
VAR_011485
Natural varianti438 – 4381D → V in OPA1. 1 Publication
VAR_060842
Natural varianti445 – 4451R → H in OPA1 and DOA+. 3 Publications
VAR_015741
Natural varianti449 – 4491T → R in OPA1. 1 Publication
VAR_060843
Natural varianti463 – 4631I → IFIF in OPA1.
VAR_060844
Natural varianti468 – 4681K → E in OPA1. 1 Publication
VAR_060845
Natural varianti470 – 4701D → G in OPA1. 1 Publication
VAR_060846
Natural varianti487 – 4871E → K in OPA1. 1 Publication
VAR_060847
Natural varianti503 – 5031T → K in OPA1. 2 Publications
VAR_022928
Natural varianti505 – 5051K → N in OPA1. 1 Publication
VAR_060848
Natural varianti545 – 5451S → R in OPA1. 2 Publications
VAR_026533
Natural varianti550 – 5501D → N.1 Publication
VAR_060849
Natural varianti551 – 5511C → Y in OPA1. 1 Publication
VAR_060851
Natural varianti551 – 5511Missing in OPA1. 1 Publication
VAR_060850
Natural varianti571 – 5711R → H in OPA1. 1 Publication
VAR_022929
Natural varianti574 – 5741L → P in OPA1. 1 Publication
VAR_060852
Natural varianti582 – 5821Y → C in DOA+. 1 Publication
VAR_060853
Natural varianti586 – 5894Missing in OPA1.
VAR_022930
Natural varianti590 – 5901R → Q in OPA1. 1 Publication
VAR_060854
Natural varianti590 – 5901R → W in OPA1. 1 Publication
VAR_060855
Natural varianti593 – 5931L → P in OPA1. 1 Publication
VAR_060856
Natural varianti646 – 6461S → L in OPA1. 1 Publication
VAR_060857
Natural varianti700 – 7012Missing in OPA1.
VAR_060858
Natural varianti728 – 7281N → K in OPA1. 1 Publication
VAR_060859
Natural varianti768 – 7681G → D in OPA1. 1 Publication
VAR_060860
Natural varianti781 – 7811R → W in OPA1. 1 Publication
Corresponds to variant rs190235251 [ dbSNP | Ensembl ].
VAR_060861
Natural varianti785 – 7851Q → R in OPA1. 2 Publications
VAR_060862
Natural varianti823 – 8231S → Y in OPA1. 1 Publication
VAR_060863
Natural varianti841 – 8411Y → C in OPA1. 1 Publication
VAR_060864
Natural varianti882 – 8821R → L in OPA1. 1 Publication
VAR_060865
Natural varianti887 – 8871L → P in OPA1. 1 Publication
VAR_060866
Natural varianti907 – 9071E → G.1 Publication
VAR_060867
Natural varianti932 – 9321R → C in OPA1. 2 Publications
VAR_060868
Natural varianti939 – 9391L → P in OPA1. 1 Publication
VAR_028370
Natural varianti949 – 9491L → P in OPA1. 1 Publication
VAR_060869

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei209 – 2091V → GLLGELILLQQQIQEHEEEA RRAAGQYSTSYAQQKRKV in isoform 2.
VSP_021035

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc003ftm.3. human. [O60313-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS33917.1. [O60313-2 ]
CCDS43186.1. [O60313-1 ]
PIRi T00336.
RefSeqi NP_056375.2. NM_015560.2. [O60313-1 ]
UniGenei Hs.594504.

3D structure databases

ProteinModelPortali O60313.
SMRi O60313. Positions 262-601.
ModBasei Search...

Protein-protein interaction databases

BioGridi 111024. 22 interactions.
IntActi O60313. 7 interactions.
MINTi MINT-4991595.
STRINGi 9606.ENSP00000354681.

Protein family/group databases

TCDBi 9.B.25.2.1. the mitochondrial inner/outer membrane fusion (mmf) family.

PTM databases

PhosphoSitei O60313.

Proteomic databases

MaxQBi O60313.
PaxDbi O60313.
PRIDEi O60313.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361908 ; ENSP00000354681 ; ENSG00000198836 . [O60313-2 ]
ENST00000392438 ; ENSP00000376233 ; ENSG00000198836 . [O60313-1 ]
GeneIDi 4976.
KEGGi hsa:4976.
UCSCi uc003ftm.3. human. [O60313-1 ]

Organism-specific databases

CTDi 4976.
GeneCardsi GC03P193311.
GeneReviewsi OPA1.
HGNCi HGNC:8140. OPA1.
HPAi HPA036926.
HPA036927.
MIMi 125250. phenotype.
165500. phenotype.
605290. gene.
neXtProti NX_O60313.
Orphaneti 3212. Autosomal dominant optic atrophy and congenital deafness.
1215. Autosomal dominant optic atrophy plus syndrome.
98673. Autosomal dominant optic atrophy, classic type.
PharmGKBi PA31927.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0699.
HOGENOMi HOG000230714.
HOVERGENi HBG019108.
KOi K17079.
OrthoDBi EOG7TMZR4.
PhylomeDBi O60313.
TreeFami TF314250.

Miscellaneous databases

ChiTaRSi OPA1. human.
GeneWikii Optic_atrophy_1.
GenomeRNAii 4976.
NextBioi 19154.
PMAP-CutDB O60313.
PROi O60313.
SOURCEi Search...

Gene expression databases

ArrayExpressi O60313.
Bgeei O60313.
CleanExi HS_OPA1.
Genevestigatori O60313.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR001401. Dynamin_GTPase.
IPR022812. Dynamin_SF.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR11566. PTHR11566. 1 hit.
Pfami PF00350. Dynamin_N. 1 hit.
[Graphical view ]
PRINTSi PR00195. DYNAMIN.
SMARTi SM00053. DYNc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS51718. G_DYNAMIN_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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."
    Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASN-158.
    Tissue: Brain.
  2. "Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing."
    Wang W., Shen P., Thiyagarajan S., Lin S., Palm C., Horvath R., Klopstock T., Cutler D., Pique L., Schrijver I., Davis R.W., Mindrinos M., Speed T.P., Scharfe C.
    Nucleic Acids Res. 39:44-58(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASN-158.
    Tissue: Brain.
  6. Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 2), TISSUE SPECIFICITY, VARIANTS OPA1 GLN-290; ARG-785 AND PRO-939.
  7. Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT OPA1 GLU-300.
  8. "OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28."
    Alexander C., Votruba M., Pesch U.E.A., Thiselton D.L., Mayer S., Moore A., Rodriguez M., Kellner U., Leo-Kottler B., Auburger G., Bhattacharya S.S., Wissinger B.
    Nat. Genet. 26:211-215(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, VARIANTS OPA1 GLN-290 AND ILE-432 DEL.
  9. "Regulation of mitochondrial morphology through proteolytic cleavage of OPA1."
    Ishihara N., Fujita Y., Oka T., Mihara K.
    EMBO J. 25:2966-2977(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  10. "Inducible proteolytic inactivation of OPA1 mediated by the OMA1 protease in mammalian cells."
    Head B., Griparic L., Amiri M., Gandre-Babbe S., van der Bliek A.M.
    J. Cell Biol. 187:959-966(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION (DYNAMIN-LIKE 120 KDA PROTEIN; FORM S1), PROTEOLYTIC PROCESSING.
  11. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-228, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: INTERACTION WITH PRELID1.
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function."
    Darshi M., Mendiola V.L., Mackey M.R., Murphy A.N., Koller A., Perkins G.A., Ellisman M.H., Taylor S.S.
    J. Biol. Chem. 286:2918-2932(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CHCHD3 AND IMMT.
  15. "OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance."
    Pesch U.E.A., Leo-Kottler B., Mayer S., Jurklies B., Kellner U., Apfelstedt-Sylla E., Zrenner E., Alexander C., Wissinger B.
    Hum. Mol. Genet. 10:1359-1368(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OPA1 LYS-270; ALA-273; GLN-290; TRP-290; VAL-438; GLU-468; CYS-551 DEL AND ARG-785, VARIANTS ASN-158; VAL-192 AND ASN-550.
  16. Cited for: VARIANTS OPA1 GLN-290; GLU-300; PHE-384; LYS-503 AND ASN-505, VARIANTS ASN-158 AND GLY-907.
  17. "A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy."
    Thiselton D.L., Alexander C., Taanman J.-W., Brooks S., Rosenberg T., Eiberg H., Andreasson S., Van Regemorter N., Munier F.L., Moore A.T., Bhattacharya S.S., Votruba M.
    Invest. Ophthalmol. Vis. Sci. 43:1715-1724(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OPA1 38-ARG--SER-43 DEL; 586-ARG--ASP-589 DEL; ARG-396; ILE-432 DEL; LYS-503 AND HIS-571, VARIANTS ASN-158; LEU-167 AND VAL-192.
  18. "A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy."
    Shimizu S., Mori N., Kishi M., Sugata H., Tsuda A., Kubota N.
    Am. J. Ophthalmol. 135:256-257(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OPA1 HIS-445.
  19. "Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy."
    Baris O., Delettre C., Amati-Bonneau P., Surget M.-O., Charlin J.-F., Catier A., Derieux L., Guyomard J.-L., Dollfus H., Jonveaux P., Ayuso C., Maumenee I., Lorenz B., Mohammed S., Tourmen Y., Bonneau D., Malthiery Y., Hamel C., Reynier P.
    Hum. Mutat. 21:656-656(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OPA1 PRO-272; GLY-470; PRO-574 AND 700-LEU-LYS-701 DEL.
  20. "Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1."
    Payne M., Yang Z., Katz B.J., Warner J.E.A., Weight C.J., Zhao Y., Pearson E.D., Treft R.L., Hillman T., Kennedy R.J., Meire F.M., Zhang K.
    Am. J. Ophthalmol. 138:749-755(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DOA+ HIS-445.
  21. Cited for: VARIANTS OPA1 324-ARG--PRO-326 DEL; TRP-590 AND LYS-728, VARIANT ASN-158.
  22. Cited for: VARIANT DOA+ HIS-445.
  23. "OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy."
    Han J., Thompson-Lowrey A.J., Reiss A., Mayorov V., Jia H., Biousse V., Newman N.J., Brown M.D.
    Genet. Med. 8:217-225(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OPA1 SER-8; CYS-80 AND CYS-841, VARIANTS ASN-158 AND VAL-192.
  24. "Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy."
    Nakamura M., Lin J., Ueno S., Asaoka R., Hirai T., Hotta Y., Miyake Y., Terasaki H.
    Ophthalmology 113:483-488(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OPA1 ARG-545.
  25. "Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1."
    Ferraris S., Clark S., Garelli E., Davidzon G., Moore S.A., Kardon R.H., Bienstock R.J., Longley M.J., Mancuso M., Gutierrez Rios P., Hirano M., Copeland W.C., DiMauro S.
    Arch. Neurol. 65:125-131(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DOA+ CYS-582.
  26. "Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations."
    Ferre M., Bonneau D., Milea D., Chevrollier A., Verny C., Dollfus H., Ayuso C., Defoort S., Vignal C., Zanlonghi X., Charlin J.-F., Kaplan J., Odent S., Hamel C.P., Procaccio V., Reynier P., Amati-Bonneau P.
    Hum. Mutat. 30:E692-E705(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OPA1 MET-95; CYS-102; 293-VAL-VAL-294 DEL; ARG-310; THR-357; MET-382; PRO-396; 429-PRO-ASN-430 DEL; ASP-430; ARG-449; 463-ILE-PHE-464 INS; LYS-487; ARG-545; TYR-551; GLN-590; PRO-593; LEU-646; ASP-768; TRP-781; TYR-823; LEU-882; PRO-887; CYS-932 AND PRO-949.
  27. "Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect."
    Nochez Y., Arsene S., Gueguen N., Chevrollier A., Ferre M., Guillet V., Desquiret V., Toutain A., Bonneau D., Procaccio V., Amati-Bonneau P., Pisella P.-J., Reynier P.
    Mol. Vis. 15:598-608(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OPA1 CYS-932.
  28. "A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy."
    Zhang J., Yuan Y., Lin B., Feng H., Li Y., Dai X., Zhou H., Dong X., Liu X.L., Guan M.X.
    Biochem. Biophys. Res. Commun. 419:670-675(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OPA1 ALA-400.

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: July 9, 2014
This is version 137 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

External Data

Dasty 3

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