Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O60313

- OPA1_HUMAN

UniProt

O60313 - OPA1_HUMAN

Protein

Dynamin-like 120 kDa protein, mitochondrial

Gene

OPA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 3 (25 Nov 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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.
    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.

    Catalytic activityi

    GTP + H2O = GDP + phosphate.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi295 – 3028GTPSequence Analysis
    Nucleotide bindingi398 – 4025GTPSequence Analysis
    Nucleotide bindingi467 – 4704GTPSequence Analysis

    GO - Molecular functioni

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

    GO - Biological processi

    1. apoptotic process Source: UniProtKB-KW
    2. axon transport of mitochondrion Source: UniProtKB
    3. cellular senescence Source: UniProtKB
    4. GTP catabolic process Source: GOC
    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

    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

    GO - Cellular componenti

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

    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.14 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.
    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 – 8787MitochondrionBy similarityAdd
    BLAST
    Chaini88 – 960873Dynamin-like 120 kDa protein, mitochondrialPRO_0000007397Add
    BLAST
    Chaini195 – 960766Dynamin-like 120 kDa protein, form S1By similarityPRO_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.1 Publication

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini88 – 969Mitochondrial matrixBy similarity
    Topological domaini114 – 960847Mitochondrial intermembraneBy similarityAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei97 – 11317HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

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

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili210 – 25445Sequence AnalysisAdd
    BLAST
    Coiled coili895 – 96066Sequence AnalysisAdd
    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. CuratedVSP_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...
    MobiDBi 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

    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: October 1, 2014
    This is version 138 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