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Q9H6K4

- OPA3_HUMAN

UniProt

Q9H6K4 - OPA3_HUMAN

Protein

Optic atrophy 3 protein

Gene

OPA3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    May play some role in mitochondrial processes.

    GO - Biological processi

    1. growth Source: Ensembl
    2. mitochondrion morphogenesis Source: Ensembl
    3. neuromuscular process Source: Ensembl
    4. regulation of lipid metabolic process Source: Ensembl
    5. response to stimulus Source: UniProtKB-KW
    6. visual perception Source: UniProtKB

    Keywords - Biological processi

    Sensory transduction, Vision

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Optic atrophy 3 protein
    Gene namesi
    Name:OPA3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:8142. OPA3.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    3-methylglutaconic aciduria 3 (MGA3) [MIM:258501]: A metabolic disorder that causes a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGA3 can be distinguished from MGA1 by the absence of increase of 3-hydroxyisovaleric acid levels.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Optic atrophy 3 (OPA3) [MIM:165300]: 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. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931G → S in OPA3. 1 Publication
    VAR_033103
    Natural varianti105 – 1051Q → E in OPA3. 1 Publication
    VAR_033104

    Keywords - Diseasei

    Cataract, Disease mutation

    Organism-specific databases

    MIMi165300. phenotype.
    258501. phenotype.
    Orphaneti67047. 3-methylglutaconic aciduria type 3.
    67036. Autosomal dominant optic atrophy and cataract.
    PharmGKBiPA31929.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 179179Optic atrophy 3 proteinPRO_0000220763Add
    BLAST

    Proteomic databases

    MaxQBiQ9H6K4.
    PaxDbiQ9H6K4.
    PeptideAtlasiQ9H6K4.
    PRIDEiQ9H6K4.

    PTM databases

    PhosphoSiteiQ9H6K4.

    Expressioni

    Tissue specificityi

    Ubiquitous. Most prominent expression in skeletal muscle and kidney.1 Publication

    Gene expression databases

    ArrayExpressiQ9H6K4.
    BgeeiQ9H6K4.
    CleanExiHS_OPA3.
    GenevestigatoriQ9H6K4.

    Organism-specific databases

    HPAiHPA044881.

    Interactioni

    Protein-protein interaction databases

    BioGridi123176. 4 interactions.
    IntActiQ9H6K4. 3 interactions.
    MINTiMINT-8417711.
    STRINGi9606.ENSP00000319817.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H6K4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili103 – 16361Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the OPA3 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG241179.
    HOGENOMiHOG000007385.
    HOVERGENiHBG019109.
    OMAiICKPIAN.
    OrthoDBiEOG7JMGG7.
    PhylomeDBiQ9H6K4.
    TreeFamiTF314653.

    Family and domain databases

    InterProiIPR010754. OPA3-like.
    [Graphical view]
    PANTHERiPTHR12499. PTHR12499. 1 hit.
    PfamiPF07047. OPA3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Note: The two isoforms share the first coding exon and than differ due to a duplicated alternative second coding exon.

    Isoform 1 (identifier: Q9H6K4-1) [UniParc]FASTAAdd to Basket

    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

    MVVGAFPMAK LLYLGIRQVS KPLANRIKEA ARRSEFFKTY ICLPPAQLYH    50
    WVEMRTKMRI MGFRGTVIKP LNEEAAAELG AELLGEATIF IVGGGCLVLE 100
    YWRHQAQQRH KEEEQRAAWN ALRDEVGHLA LALEALQAQV QAAPPQGALE 150
    ELRTELQEVR AQLCNPGRSA SHAVPASKK 179
    Length:179
    Mass (Da):19,996
    Last modified:March 1, 2001 - v1
    Checksum:i2FB48F84B24E5AE8
    GO
    Isoform 2 (identifier: Q9H6K4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         52-179: VEMRTKMRIM...ASHAVPASKK → LEMRTKMRIM...APPVAPASEK

    Show »
    Length:180
    Mass (Da):20,255
    Checksum:i3D244FE24B3D8DBA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Isoform 2 (identifier: Q9H6K4-2)
    Sequence conflicti130 – 1301G → E in BAC05415. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931G → S in OPA3. 1 Publication
    VAR_033103
    Natural varianti105 – 1051Q → E in OPA3. 1 Publication
    VAR_033104

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei52 – 179128VEMRT…PASKK → LEMRTKMRIMGFNAAAIKPL NEGAAAELGAELLGEGIIFI TACSCLMLEYWRHQLQQRRK EKERRVAREALRGEVGHLGL ALEELQAQVQATSTQLALEE LRAQLQEVRAHLCLRDPPPA PPVAPASEK in isoform 2. 2 PublicationsVSP_032681Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK025840 mRNA. Translation: BAB15255.1.
    AK098798 mRNA. Translation: BAC05415.1.
    BC005059 mRNA. Translation: AAH05059.1.
    BC047316 mRNA. Translation: AAH47316.1.
    BC064146 mRNA. Translation: AAH64146.1.
    CCDSiCCDS12668.1. [Q9H6K4-1]
    CCDS33052.1. [Q9H6K4-2]
    RefSeqiNP_001017989.2. NM_001017989.2. [Q9H6K4-2]
    NP_079412.1. NM_025136.3. [Q9H6K4-1]
    UniGeneiHs.466945.
    Hs.723713.

    Genome annotation databases

    EnsembliENST00000263275; ENSP00000263275; ENSG00000125741. [Q9H6K4-1]
    ENST00000323060; ENSP00000319817; ENSG00000125741. [Q9H6K4-2]
    GeneIDi80207.
    KEGGihsa:80207.
    UCSCiuc002pcj.4. human. [Q9H6K4-2]
    uc002pck.4. human. [Q9H6K4-1]

    Polymorphism databases

    DMDMi20139177.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK025840 mRNA. Translation: BAB15255.1 .
    AK098798 mRNA. Translation: BAC05415.1 .
    BC005059 mRNA. Translation: AAH05059.1 .
    BC047316 mRNA. Translation: AAH47316.1 .
    BC064146 mRNA. Translation: AAH64146.1 .
    CCDSi CCDS12668.1. [Q9H6K4-1 ]
    CCDS33052.1. [Q9H6K4-2 ]
    RefSeqi NP_001017989.2. NM_001017989.2. [Q9H6K4-2 ]
    NP_079412.1. NM_025136.3. [Q9H6K4-1 ]
    UniGenei Hs.466945.
    Hs.723713.

    3D structure databases

    ProteinModelPortali Q9H6K4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123176. 4 interactions.
    IntActi Q9H6K4. 3 interactions.
    MINTi MINT-8417711.
    STRINGi 9606.ENSP00000319817.

    PTM databases

    PhosphoSitei Q9H6K4.

    Polymorphism databases

    DMDMi 20139177.

    Proteomic databases

    MaxQBi Q9H6K4.
    PaxDbi Q9H6K4.
    PeptideAtlasi Q9H6K4.
    PRIDEi Q9H6K4.

    Protocols and materials databases

    DNASUi 80207.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263275 ; ENSP00000263275 ; ENSG00000125741 . [Q9H6K4-1 ]
    ENST00000323060 ; ENSP00000319817 ; ENSG00000125741 . [Q9H6K4-2 ]
    GeneIDi 80207.
    KEGGi hsa:80207.
    UCSCi uc002pcj.4. human. [Q9H6K4-2 ]
    uc002pck.4. human. [Q9H6K4-1 ]

    Organism-specific databases

    CTDi 80207.
    GeneCardsi GC19M046031.
    GeneReviewsi OPA3.
    H-InvDB HIX0174489.
    HGNCi HGNC:8142. OPA3.
    HPAi HPA044881.
    MIMi 165300. phenotype.
    258501. phenotype.
    606580. gene.
    neXtProti NX_Q9H6K4.
    Orphaneti 67047. 3-methylglutaconic aciduria type 3.
    67036. Autosomal dominant optic atrophy and cataract.
    PharmGKBi PA31929.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG241179.
    HOGENOMi HOG000007385.
    HOVERGENi HBG019109.
    OMAi ICKPIAN.
    OrthoDBi EOG7JMGG7.
    PhylomeDBi Q9H6K4.
    TreeFami TF314653.

    Miscellaneous databases

    ChiTaRSi OPA3. human.
    GeneWikii OPA3.
    GenomeRNAii 80207.
    NextBioi 70584.
    PROi Q9H6K4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H6K4.
    Bgeei Q9H6K4.
    CleanExi HS_OPA3.
    Genevestigatori Q9H6K4.

    Family and domain databases

    InterProi IPR010754. OPA3-like.
    [Graphical view ]
    PANTHERi PTHR12499. PTHR12499. 1 hit.
    Pfami PF07047. OPA3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews."
      Anikster Y., Kleta R., Shaag A., Gahl W.A., Elpeleg O.
      Am. J. Hum. Genet. 69:1218-1224(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN MGA3, TISSUE SPECIFICITY.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain.
    3. "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] (ISOFORMS 1 AND 2).
      Tissue: Kidney, Lung and Testis.
    4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    5. Cited for: VARIANTS OPA3 SER-93 AND GLU-105.

    Entry informationi

    Entry nameiOPA3_HUMAN
    AccessioniPrimary (citable) accession number: Q9H6K4
    Secondary accession number(s): Q6P384, Q8N784
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 27, 2002
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 109 of the entry and version 1 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 19
      Human chromosome 19: 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