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Q9BSH4

- TACO1_HUMAN

UniProt

Q9BSH4 - TACO1_HUMAN

Protein

Translational activator of cytochrome c oxidase 1

Gene

TACO1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1.1 Publication

    GO - Biological processi

    1. regulation of translation Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Translation regulation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Translational activator of cytochrome c oxidase 1
    Alternative name(s):
    Coiled-coil domain-containing protein 44
    Translational activator of mitochondrially-encoded cytochrome c oxidase I
    Gene namesi
    Name:TACO1
    Synonyms:CCDC44
    ORF Names:PRO0477
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:24316. TACO1.

    Subcellular locationi

    Mitochondrion 1 Publication

    GO - Cellular componenti

    1. mitochondrion Source: HPA
    2. nucleus Source: HPA

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Leigh syndrome

    Organism-specific databases

    MIMi256000. phenotype.
    Orphaneti70474. Leigh syndrome with cardiomyopathy.
    PharmGKBiPA165433031.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 297297Translational activator of cytochrome c oxidase 1PRO_0000175942Add
    BLAST

    Proteomic databases

    MaxQBiQ9BSH4.
    PaxDbiQ9BSH4.
    PeptideAtlasiQ9BSH4.
    PRIDEiQ9BSH4.

    PTM databases

    PhosphoSiteiQ9BSH4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BSH4.
    BgeeiQ9BSH4.
    CleanExiHS_CCDC44.
    GenevestigatoriQ9BSH4.

    Organism-specific databases

    HPAiHPA021626.
    HPA021643.
    HPA024294.

    Interactioni

    Protein-protein interaction databases

    BioGridi119377. 7 interactions.
    IntActiQ9BSH4. 2 interactions.
    MINTiMINT-1460586.
    STRINGi9606.ENSP00000258975.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BSH4.
    SMRiQ9BSH4. Positions 63-297.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili191 – 22737Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the TACO1 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiCOG0217.
    HOGENOMiHOG000228370.
    InParanoidiQ9BSH4.
    KOiK18189.
    OMAiMIPQTEV.
    OrthoDBiEOG72NRR5.
    PhylomeDBiQ9BSH4.
    TreeFamiTF300070.

    Family and domain databases

    Gene3Di1.10.10.200. 1 hit.
    3.30.1270.10. 2 hits.
    3.30.70.980. 1 hit.
    HAMAPiMF_00693. Transcrip_reg_TACO1.
    InterProiIPR017856. Integrase_Zn-bd_dom-like_N.
    IPR002876. Transcrip_reg_TACO1-like.
    IPR026563. Transcrip_reg_TACO1-like_dom2.
    IPR026564. Transcrip_reg_TACO1-like_dom3.
    IPR029072. YebC-like.
    [Graphical view]
    PANTHERiPTHR12532. PTHR12532. 1 hit.
    PfamiPF01709. Transcrip_reg. 1 hit.
    [Graphical view]
    SUPFAMiSSF75625. SSF75625. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9BSH4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSAWAAASLS RAAARCLLAR GPGVRAAPPR DPRPSHPEPR GCGAAPGRTL    50
    HFTAAVPAGH NKWSKVRHIK GPKDVERSRI FSKLCLNIRL AVKEGGPNPE 100
    HNSNLANILE VCRSKHMPKS TIETALKMEK SKDTYLLYEG RGPGGSSLLI 150
    EALSNSSHKC QADIRHILNK NGGVMAVGAR HSFDKKGVIV VEVEDREKKA 200
    VNLERALEMA IEAGAEDVKE TEDEEERNVF KFICDASSLH QVRKKLDSLG 250
    LCSVSCALEF IPNSKVQLAE PDLEQAAHLI QALSNHEDVI HVYDNIE 297
    Length:297
    Mass (Da):32,477
    Last modified:June 1, 2001 - v1
    Checksum:i079C4716F32EE6FF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti168 – 1681L → M in AAF24044. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti145 – 1451G → S.
    Corresponds to variant rs35252424 [ dbSNP | Ensembl ].
    VAR_052934

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK315375 mRNA. Translation: BAG37768.1.
    CH471109 Genomic DNA. Translation: EAW94304.1.
    BC005049 mRNA. Translation: AAH05049.1.
    BC007744 mRNA. Translation: AAH07744.1.
    AL833861 mRNA. Translation: CAD38719.1.
    AF090929 mRNA. Translation: AAF24044.1.
    CCDSiCCDS11640.1.
    RefSeqiNP_057444.2. NM_016360.3.
    UniGeneiHs.174134.

    Genome annotation databases

    EnsembliENST00000258975; ENSP00000258975; ENSG00000136463.
    GeneIDi51204.
    KEGGihsa:51204.
    UCSCiuc002jbd.3. human.

    Polymorphism databases

    DMDMi33516968.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK315375 mRNA. Translation: BAG37768.1 .
    CH471109 Genomic DNA. Translation: EAW94304.1 .
    BC005049 mRNA. Translation: AAH05049.1 .
    BC007744 mRNA. Translation: AAH07744.1 .
    AL833861 mRNA. Translation: CAD38719.1 .
    AF090929 mRNA. Translation: AAF24044.1 .
    CCDSi CCDS11640.1.
    RefSeqi NP_057444.2. NM_016360.3.
    UniGenei Hs.174134.

    3D structure databases

    ProteinModelPortali Q9BSH4.
    SMRi Q9BSH4. Positions 63-297.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119377. 7 interactions.
    IntActi Q9BSH4. 2 interactions.
    MINTi MINT-1460586.
    STRINGi 9606.ENSP00000258975.

    PTM databases

    PhosphoSitei Q9BSH4.

    Polymorphism databases

    DMDMi 33516968.

    Proteomic databases

    MaxQBi Q9BSH4.
    PaxDbi Q9BSH4.
    PeptideAtlasi Q9BSH4.
    PRIDEi Q9BSH4.

    Protocols and materials databases

    DNASUi 51204.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000258975 ; ENSP00000258975 ; ENSG00000136463 .
    GeneIDi 51204.
    KEGGi hsa:51204.
    UCSCi uc002jbd.3. human.

    Organism-specific databases

    CTDi 51204.
    GeneCardsi GC17P061678.
    HGNCi HGNC:24316. TACO1.
    HPAi HPA021626.
    HPA021643.
    HPA024294.
    MIMi 256000. phenotype.
    612958. gene.
    neXtProti NX_Q9BSH4.
    Orphaneti 70474. Leigh syndrome with cardiomyopathy.
    PharmGKBi PA165433031.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0217.
    HOGENOMi HOG000228370.
    InParanoidi Q9BSH4.
    KOi K18189.
    OMAi MIPQTEV.
    OrthoDBi EOG72NRR5.
    PhylomeDBi Q9BSH4.
    TreeFami TF300070.

    Miscellaneous databases

    GenomeRNAii 51204.
    NextBioi 54250.
    PROi Q9BSH4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BSH4.
    Bgeei Q9BSH4.
    CleanExi HS_CCDC44.
    Genevestigatori Q9BSH4.

    Family and domain databases

    Gene3Di 1.10.10.200. 1 hit.
    3.30.1270.10. 2 hits.
    3.30.70.980. 1 hit.
    HAMAPi MF_00693. Transcrip_reg_TACO1.
    InterProi IPR017856. Integrase_Zn-bd_dom-like_N.
    IPR002876. Transcrip_reg_TACO1-like.
    IPR026563. Transcrip_reg_TACO1-like_dom2.
    IPR026564. Transcrip_reg_TACO1-like_dom3.
    IPR029072. YebC-like.
    [Graphical view ]
    PANTHERi PTHR12532. PTHR12532. 1 hit.
    Pfami PF01709. Transcrip_reg. 1 hit.
    [Graphical view ]
    SUPFAMi SSF75625. SSF75625. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "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].
      Tissue: Amygdala.
    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: Brain and Placenta.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 126-297.
      Tissue: Melanoma.
    5. "Functional prediction of the coding sequences of 50 new genes deduced by analysis of cDNA clones from human fetal liver."
      Yu Y., Zhang C., Luo L., Ouyang S., Zhang S., Li W., Wu J., Zhou S., Liu M., He F.
      Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 168-297.
      Tissue: Fetal liver.
    6. "Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome."
      Weraarpachai W., Antonicka H., Sasarman F., Seeger J., Schrank B., Kolesar J.E., Lochmueller H., Chevrette M., Kaufman B.A., Horvath R., Shoubridge E.A.
      Nat. Genet. 41:833-837(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, DISEASE.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiTACO1_HUMAN
    AccessioniPrimary (citable) accession number: Q9BSH4
    Secondary accession number(s): B2RD21, Q8N3N6, Q9UI60
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 4, 2003
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 98 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 17
      Human chromosome 17: 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
    6. Uncharacterized protein families (UPF)
      List of uncharacterized protein family (UPF) entries

    External Data

    Dasty 3