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TACO1 Gene

protein-coding   GIFtS: 57
GCID: GC17P061678

Translational Activator Of Mitochondrially Encoded Cytochrome...

(Previous name: coiled-coil domain containing 44)
(Previous symbol: CCDC44)
  See TACO1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Translational Activator Of Mitochondrially Encoded Cytochrome C Oxidase
I1 2
     Clone HQ0477 PRO0477p2
CCDC441 2 3 5     Translational Activator Of Cytochrome C Oxidase 12
Coiled-Coil Domain-Containing Protein 442 3     Translational Activator Of Mitochondrially-Encoded Cytochrome C Oxidase I3
Coiled-Coil Domain Containing 441     

External Ids:    HGNC: 243161   Entrez Gene: 512042   Ensembl: ENSG000001364637   OMIM: 6129585   UniProtKB: Q9BSH43   
ORGUL members:         

Export aliases for TACO1 gene to outside databases

Previous GC identifers: GC17P059033 GC17P057046


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TACO1 Gene:
This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded
cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.(provided by RefSeq, Mar 2010)

GeneCards Summary for TACO1 Gene:
TACO1 (translational activator of mitochondrially encoded cytochrome c oxidase I) is a protein-coding gene. Diseases associated with TACO1 include leigh syndrome with cardiomyopathy, and cytochrome-c oxidase deficiency disease.

UniProtKB/Swiss-Prot: TACO1_HUMAN, Q9BSH4
Function: Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TACO1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTACO1 promoter sequence
   Search Chromatin IP Primers for TACO1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TACO1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q23.3   Ensembl cytogenetic band:  17q23.3   HGNC cytogenetic band: 17q23.3

TACO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TACO1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P061678:  view genomic region     (about GC identifiers)

Start:
61,678,231 bp from pter      End:
61,685,725 bp from pter
Size:
7,495 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TACO1_HUMAN, Q9BSH4 (See protein sequence)
Recommended Name: Translational activator of cytochrome c oxidase 1  
Size: 297 amino acids; 32477 Da
Secondary accessions: B2RD21 Q8N3N6 Q9UI60

Explore the universe of human proteins at neXtProt for TACO1: NX_Q9BSH4

Explore proteomics data for TACO1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys170
  • Modification sites at PhosphoSitePlus

  • See TACO1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057444.2  
    ENSEMBL proteins: 
     ENSP00000258975  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR002876 Transcrip_reg_TACO1-like
     IPR017856 Integrase_Zn-bd_dom-like_N
     IPR026564 Transcrip_reg_TACO1-like_dom3
     IPR026563 Transcrip_reg_TACO1-like_dom2

    Graphical View of Domain Structure for InterPro Entry Q9BSH4

    ProtoNet protein and cluster: Q9BSH4

    1 Blocks protein domain: IPB002876 Protein of unknown function DUF28

    UniProtKB/Swiss-Prot: TACO1_HUMAN, Q9BSH4
    Similarity: Belongs to the TACO1 family


    Find genes that share domains with TACO1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TACO1_HUMAN, Q9BSH4
    Function: Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1

    Phenotypes:
         1 GenomeRNAi human phenotype for TACO1:

     Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TACO1
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    miRNA
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    miRTarBase miRNAs that target TACO1:
    hsa-mir-615-3p (MIRT040101), hsa-mir-16-5p (MIRT031464)

    Block miRNA regulation of human, mouse, rat TACO1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate TACO1:
    hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidTACO1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TACO1
    Predesigned siRNA for gene silencing in human, mouse, rat TACO1

    Gene Editing
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TACO1_HUMAN, Q9BSH4: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    peroxisome2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005739mitochondrion IDA--

    Find genes that share ontologies with TACO1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TACO1
    Interactions:

        Search GeneGlobe Interaction Network for TACO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for TACO1 (Q9BSH42, 3 ENSP000002589754) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SAT1P216732, 3, ENSP000003685724MINT-67130 I2D: score=5 STRING: ENSP00000368572
    FTSJ1Q9UET63, ENSP000003269484I2D: score=1 STRING: ENSP00000326948
    PRPF8ENSP000003043504STRING: ENSP00000304350
    ZC3H14ENSP000002510384STRING: ENSP00000251038
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006417regulation of translation IEA--

    Find genes that share ontologies with TACO1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TACO1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TACO1 gene: 
    NM_016360.3  

    Unigene Cluster for TACO1:

    Translational activator of mitochondrially encoded cytochrome c oxidase I
    Hs.174134  [show with all ESTs]
    Unigene Representative Sequence: BF129460
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000258975(uc002jbd.3) ENST00000581120
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate TACO1:
    hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidTACO1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat TACO1
      QuantiFast Probe-based Assays in human, mouse, rat TACO1

    Additional mRNA sequence: 

    AK315375.1 AL833861.1 BC005049.1 BC007744.2 

    6 DOTS entries:

    DT.211577  DT.95169460  DT.101958826  DT.87015050  DT.95169462  DT.97773116 

    Selected AceView cDNA sequences (see all 126):

    BM725701 CR595383 BU623073 BM969108 BU632529 BM789323 BU857449 BQ447895 
    BM675123 AI699483 BE734011 NM_016360 BQ225070 BM790383 AI917205 AI985554 
    BQ004164 CB110591 AW968801 CR619833 BC007744 BU688559 BC005049 BM713163 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TACO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCCCCGGG
    TACO1 Expression
    About this image


    TACO1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    TACO1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TACO1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.174134
        Custom PCR Arrays for TACO1
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TACO1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Taco11 , 5 translational activator of mitochondrially encoded more1, 5 82.92(n)1
    79.93(a)1
      11 (68.89 cM)5
    702071  NM_027346.11  NP_081622.11 
     1060660615 
    lizard
    (Anolis carolinensis)
    Reptilia TACO16
    translational activator of mitochondrially encoded...
    54(a)
    1 ↔ 1
    GL343279.1(481916-486805)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia taco11 translational activator of mitochondrially encoded more 61.02(n)
    53.63(a)
      100135399  XM_004918602.1  XP_004918659.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1622041 zgc:162204 55.56(n)
    50.81(a)
      570857  NM_001082873.1  NP_001076342.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG49571 CG4957 42.23(n)
    29.66(a)
      34374  NM_135522.4  NP_609366.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y50D7A.91 Y50D7A.9 42.97(n)
    30.12(a)
      175191  NM_064782.3  NP_497183.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YGR021W)4
    YGR021W1
    Putative protein of unknown function; the authentic, more4
    YGR021W1
    44.81(n)1
    31.54(a)1
      7(527632-528504)4
    8529041, 4  NP_011535.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G258301 AT2G25830 45.85(n)
    31(a)
      817125  NM_128143.3  NP_565610.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g05198001 Os05g0519800 44.54(n)
    32.29(a)
      4339344  NM_001062602.1  NP_001056067.1 


    ENSEMBL Gene Tree for TACO1 (if available)
    TreeFam Gene Tree for TACO1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TACO1 gene
    1 SIMAP similar gene for TACO1 using alignment to 1 protein entry:     TACO1_HUMAN:
    CCDC44

    Find genes that share paralogs with TACO1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TACO1 (see all 188)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112880921,2
    C,F--61679450(+) AAAAAA/-AAAAA 1 -- int1 trp32Minor allele frequency- -:0.50NA 4
    rs80699931,2
    C,H--62694469(+) ctaggG/Cctgtg 1 -- us2k116Minor allele frequency- C:0.00NS EA NA WA CSA 559
    rs1837755391,2
    --62694470(+) TAGGCC/GTGTGG 1 -- us2k10--------
    rs98933481,2
    C,F,H--62694482(+) aattgG/Tgggga 1 -- us2k117Minor allele frequency- T:0.18NS EA NA CSA WA 2218
    rs1495844591,2
    --62694517(+) ACAGGA/TCTTCT 1 -- us2k10--------
    rs1433103121,2
    --62694705(+) ATTACA/GGTAGA 1 -- us2k10--------
    rs1884982081,2
    --62694890(+) CCTCGC/GCCTCC 1 -- us2k10--------
    rs1132204361,2
    C--62695002(+) TATCCC/TATTTA 1 -- us2k10--------
    rs2006636201,2
    --62695178(+) TCTCT-/CTTTTT 1 -- us2k10--------
    rs72190751,2
    C,A--62695179(+) tctctC/Tttttt 1 -- us2k1 trp30--------

    HapMap Linkage Disequilibrium report for TACO1 (61678231 - 61685725 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TACO1: --
    Human Gene Mutation Database (HGMD): TACO1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TACO1
    DNA2.0 Custom Variant and Variant Library Synthesis for TACO1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612958   
    OMIM disorders: 220110  
    UniProtKB/Swiss-Prot: TACO1_HUMAN, Q9BSH4
  • 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

  • 4 diseases for TACO1:    
    About MalaCards
    leigh syndrome with cardiomyopathy    cytochrome-c oxidase deficiency disease    denys-drash syndrome    leigh disease

    1 disease from the University of Copenhagen DISEASES database for TACO1:
    Leigh disease

    Find genes that share disorders with TACO1           About GenesLikeMe

    Genetic Association Database (GAD): TACO1
    Human Genome Epidemiology (HuGE) Navigator: TACO1 (1 document)

    Export disorders for TACO1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TACO1 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with TACO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. (PubMed id 19503089)1, 2, 3 Weraarpachai W....Shoubridge E.A. (Nat. Genet. 2009)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Clinical and neuropathological findings in patients with TACO1 mutations. (PubMed id 20727754)1 Seeger J....Horvath R. (Neuromuscul. Disord. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51204 HGNC: 24316 AceView: LOC51204 Ensembl:ENSG00000136463 euGenes: HUgn51204
    ECgene: TACO1 H-InvDB: TACO1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TACO1 Pharmacogenomics, SNPs, Pathways

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    Patent Information for TACO1 gene:
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