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Aliases for TACO1 Gene

Aliases for TACO1 Gene

  • Translational Activator Of Cytochrome C Oxidase I 2 3
  • Translational Activator Of Mitochondrially Encoded Cytochrome C Oxidase I 2 3 5
  • Coiled-Coil Domain-Containing Protein 44 3 4
  • CCDC44 3 4
  • Translational Activator Of Mitochondrially-Encoded Cytochrome C Oxidase I 4
  • Coiled-Coil Domain Containing 44 2
  • Clone HQ0477 PRO0477p 3

External Ids for TACO1 Gene

Previous HGNC Symbols for TACO1 Gene

  • CCDC44

Previous GeneCards Identifiers for TACO1 Gene

  • GC17P059033
  • GC17P061678
  • GC17P057046

Summaries for TACO1 Gene

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 Cytochrome C Oxidase I) is a Protein Coding gene. Diseases associated with TACO1 include myasthenic syndrome, congenital, 16 and mitochondrial complex iv deficiency. Among its related pathways are Gene Expression and Metabolism.

UniProtKB/Swiss-Prot for TACO1 Gene

  • Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TACO1 Gene

Genomics for TACO1 Gene

Regulatory Elements for TACO1 Gene

Enhancers for TACO1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TACO1 on UCSC Golden Path with GeneCards custom track

Promoters for TACO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TACO1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TACO1 Gene

Chromosome:
17
Start:
63,600,872 bp from pter
End:
63,608,365 bp from pter
Size:
7,494 bases
Orientation:
Plus strand

Genomic View for TACO1 Gene

Genes around TACO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TACO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TACO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TACO1 Gene

Proteins for TACO1 Gene

  • Protein details for TACO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSH4-TACO1_HUMAN
    Recommended name:
    Translational activator of cytochrome c oxidase 1
    Protein Accession:
    Q9BSH4
    Secondary Accessions:
    • B2RD21
    • Q8N3N6
    • Q9UI60

    Protein attributes for TACO1 Gene

    Size:
    297 amino acids
    Molecular mass:
    32477 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TACO1 Gene

Proteomics data for TACO1 Gene at MOPED

Post-translational modifications for TACO1 Gene

  • Ubiquitination at Lys 170
  • Modification sites at PhosphoSitePlus

Other Protein References for TACO1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TACO1 Gene

Domains & Families for TACO1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BSH4

UniProtKB/Swiss-Prot:

TACO1_HUMAN :
  • Belongs to the TACO1 family.
Family:
  • Belongs to the TACO1 family.
genes like me logo Genes that share domains with TACO1: view

No data available for Gene Families for TACO1 Gene

Function for TACO1 Gene

Molecular function for TACO1 Gene

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

Phenotypes for TACO1 Gene

GenomeRNAi human phenotypes for TACO1:
genes like me logo Genes that share phenotypes with TACO1: view

Human Phenotype Ontology for TACO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TACO1 Gene

miRTarBase miRNAs that target TACO1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TACO1 Gene

Localization for TACO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TACO1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TACO1 Gene COMPARTMENTS Subcellular localization image for TACO1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 2

Gene Ontology (GO) - Cellular Components for TACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
genes like me logo Genes that share ontologies with TACO1: view

Pathways & Interactions for TACO1 Gene

genes like me logo Genes that share pathways with TACO1: view

Interacting Proteins for TACO1 Gene

Gene Ontology (GO) - Biological Process for TACO1 Gene

None

No data available for SIGNOR curated interactions for TACO1 Gene

Drugs & Compounds for TACO1 Gene

No Compound Related Data Available

Transcripts for TACO1 Gene

mRNA/cDNA for TACO1 Gene

Unigene Clusters for TACO1 Gene

Translational activator of mitochondrially encoded cytochrome c oxidase I:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TACO1 Gene

No ASD Table

Relevant External Links for TACO1 Gene

GeneLoc Exon Structure for
TACO1
ECgene alternative splicing isoforms for
TACO1

Expression for TACO1 Gene

mRNA expression in normal human tissues for TACO1 Gene

Protein differential expression in normal tissues from HIPED for TACO1 Gene

This gene is overexpressed in Salivary gland (8.9), Peripheral blood mononuclear cells (7.9), and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TACO1 Gene



SOURCE GeneReport for Unigene cluster for TACO1 Gene Hs.174134

genes like me logo Genes that share expression patterns with TACO1: view

Protein tissue co-expression partners for TACO1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TACO1 Gene

Orthologs for TACO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TACO1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TACO1 35
  • 86.76 (n)
  • 84.18 (a)
TACO1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC100856685 35
  • 87.32 (n)
  • 84.85 (a)
TACO1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Taco1 35
  • 82.92 (n)
  • 79.93 (a)
Taco1 16
Taco1 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TACO1 35
  • 99.21 (n)
  • 99.33 (a)
TACO1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Taco1 35
  • 82.14 (n)
  • 79.64 (a)
oppossum
(Monodelphis domestica)
Mammalia TACO1 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TACO1 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TACO1 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia taco1 35
  • 61.02 (n)
  • 53.63 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:162204 35
  • 55.56 (n)
  • 50.81 (a)
TACO1 (1 of 2) 36
  • 40 (a)
OneToMany
TACO1 (2 of 2) 36
  • 45 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001629 35
  • 45.34 (n)
  • 31.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4957 35
  • 42.23 (n)
  • 29.66 (a)
CG4957 36
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y50D7A.9 35
  • 42.97 (n)
  • 30.12 (a)
taco-1 36
  • 27 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL053C 35
  • 44.53 (n)
  • 28 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04378g 35
  • 47.23 (n)
  • 31.98 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YGR021W 35
  • 44.81 (n)
  • 31.54 (a)
-- 36
  • 26 (a)
OneToOne
-- 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G25830 35
  • 45.85 (n)
  • 31 (a)
rice
(Oryza sativa)
Liliopsida Os05g0519800 35
  • 44.54 (n)
  • 32.29 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU10169 35
  • 44.74 (n)
  • 28.08 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC8D2.12c 35
  • 44.62 (n)
  • 35.48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10468 36
  • 19 (a)
OneToOne
Species with no ortholog for TACO1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TACO1 Gene

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

Paralogs for TACO1 Gene

(1) SIMAP similar genes for TACO1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TACO1: view

No data available for Paralogs for TACO1 Gene

Variants for TACO1 Gene

Sequence variations from dbSNP and Humsavar for TACO1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs35252424 - 63,606,358(-) AGAGC(C/T)ACCAG reference, missense
rs4464139 -- 63,600,555(-) CGTTC(A/C/G/T)GAGAG upstream-variant-2KB
rs7219075 -- 63,599,872(+) tctct(C/T)ttttt upstream-variant-2KB
rs8075018 -- 63,600,015(+) acagg(C/T)gcgcg upstream-variant-2KB
rs8075437 -- 63,600,136(+) aaagt(G/T)ctggg upstream-variant-2KB

Variation tolerance for TACO1 Gene

Residual Variation Intolerance Score: 42.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.77; 47.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TACO1 Gene

HapMap Linkage Disequilibrium report
TACO1
Human Gene Mutation Database (HGMD)
TACO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TACO1 Gene

Disorders for TACO1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TACO1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 16
  • congenital myasthenic syndrome due to mutation in scn4a
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
dysphagia
  • deglutition disorders
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards
Search TACO1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TACO1_HUMAN
  • 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.

Relevant External Links for TACO1

Genetic Association Database (GAD)
TACO1
Human Genome Epidemiology (HuGE) Navigator
TACO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TACO1
genes like me logo Genes that share disorders with TACO1: view

No data available for Genatlas for TACO1 Gene

Publications for TACO1 Gene

  1. Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. (PMID: 19503089) Weraarpachai W. … Shoubridge E.A. (Nat. Genet. 2009) 2 3 4 67
  2. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3

Products for TACO1 Gene

Sources for TACO1 Gene

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