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Q86WW8

- COA5_HUMAN

UniProt

Q86WW8 - COA5_HUMAN

Protein

Cytochrome c oxidase assembly factor 5

Gene

COA5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Involved in an early step of the mitochondrial complex IV assembly process.1 Publication

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome c oxidase assembly factor 5
    Gene namesi
    Name:COA5
    Synonyms:C2orf64
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:33848. COA5.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrion Source: HPA

    Pathology & Biotechi

    Involvement in diseasei

    Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531A → P in MT-C4D. 1 Publication
    VAR_065499

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi220110. phenotype.
    Orphaneti254905. Isolated cytochrome C oxidase deficiency.
    70474. Leigh syndrome with cardiomyopathy.
    PharmGKBiPA162379390.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 7474Cytochrome c oxidase assembly factor 5PRO_0000325876Add
    BLAST

    Proteomic databases

    MaxQBiQ86WW8.
    PaxDbiQ86WW8.
    PeptideAtlasiQ86WW8.
    PRIDEiQ86WW8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ86WW8.
    BgeeiQ86WW8.
    CleanExiHS_C2orf64.
    GenevestigatoriQ86WW8.

    Organism-specific databases

    HPAiHPA049563.
    HPA057768.

    Interactioni

    Protein-protein interaction databases

    BioGridi138902. 1 interaction.
    IntActiQ86WW8. 1 interaction.
    MINTiMINT-4786653.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86WW8.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the PET191 family.Curated

    Phylogenomic databases

    eggNOGiNOG284465.
    HOVERGENiHBG107093.
    InParanoidiQ86WW8.
    KOiK18178.
    OMAiNTFFECK.
    PhylomeDBiQ86WW8.
    TreeFamiTF313953.

    Family and domain databases

    InterProiIPR018793. Cyt_c_oxidase_assmbl_Pet191.
    [Graphical view]
    PfamiPF10203. Pet191_N. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q86WW8-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPKYYEDKPQ GGACAGLKED LGACLLQSDC VVQEGKSPRQ CLKEGYCNSL   50
    KYAFFECKRS VLDNRARFRG RKGY 74
    Length:74
    Mass (Da):8,376
    Last modified:June 1, 2003 - v1
    Checksum:iCE4D3FF94332B2A9
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531A → P in MT-C4D. 1 Publication
    VAR_065499

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC010134 Genomic DNA. Translation: AAX93231.1.
    CH471127 Genomic DNA. Translation: EAX01903.1.
    BC047722 mRNA. Translation: AAH47722.1.
    CCDSiCCDS33257.1.
    RefSeqiNP_001008216.1. NM_001008215.2.
    UniGeneiHs.596537.

    Genome annotation databases

    EnsembliENST00000328709; ENSP00000330730; ENSG00000183513.
    GeneIDi493753.
    KEGGihsa:493753.
    UCSCiuc002syz.3. human.

    Polymorphism databases

    DMDMi74727729.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC010134 Genomic DNA. Translation: AAX93231.1 .
    CH471127 Genomic DNA. Translation: EAX01903.1 .
    BC047722 mRNA. Translation: AAH47722.1 .
    CCDSi CCDS33257.1.
    RefSeqi NP_001008216.1. NM_001008215.2.
    UniGenei Hs.596537.

    3D structure databases

    ProteinModelPortali Q86WW8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 138902. 1 interaction.
    IntActi Q86WW8. 1 interaction.
    MINTi MINT-4786653.

    Polymorphism databases

    DMDMi 74727729.

    Proteomic databases

    MaxQBi Q86WW8.
    PaxDbi Q86WW8.
    PeptideAtlasi Q86WW8.
    PRIDEi Q86WW8.

    Protocols and materials databases

    DNASUi 493753.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000328709 ; ENSP00000330730 ; ENSG00000183513 .
    GeneIDi 493753.
    KEGGi hsa:493753.
    UCSCi uc002syz.3. human.

    Organism-specific databases

    CTDi 493753.
    GeneCardsi GC02M099216.
    HGNCi HGNC:33848. COA5.
    HPAi HPA049563.
    HPA057768.
    MIMi 220110. phenotype.
    613920. gene.
    neXtProti NX_Q86WW8.
    Orphaneti 254905. Isolated cytochrome C oxidase deficiency.
    70474. Leigh syndrome with cardiomyopathy.
    PharmGKBi PA162379390.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG284465.
    HOVERGENi HBG107093.
    InParanoidi Q86WW8.
    KOi K18178.
    OMAi NTFFECK.
    PhylomeDBi Q86WW8.
    TreeFami TF313953.

    Miscellaneous databases

    GenomeRNAii 493753.
    NextBioi 111737.
    PROi Q86WW8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q86WW8.
    Bgeei Q86WW8.
    CleanExi HS_C2orf64.
    Genevestigatori Q86WW8.

    Family and domain databases

    InterProi IPR018793. Cyt_c_oxidase_assmbl_Pet191.
    [Graphical view ]
    Pfami PF10203. Pet191_N. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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].
      Tissue: Pancreas.
    4. Cited for: VARIANT MT-C4D PRO-53, FUNCTION.

    Entry informationi

    Entry nameiCOA5_HUMAN
    AccessioniPrimary (citable) accession number: Q86WW8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 18, 2008
    Last sequence update: June 1, 2003
    Last modified: October 1, 2014
    This is version 80 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 2
      Human chromosome 2: 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