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] See more...

Aliases for TACO1 Gene

Aliases for TACO1 Gene

  • Translational Activator Of Cytochrome C Oxidase I 2 3 5
  • Translational Activator Of Mitochondrially Encoded Cytochrome C Oxidase I 2 3
  • Translational Activator Of Cytochrome C Oxidase 1 3 4
  • Coiled-Coil Domain-Containing Protein 44 3 4
  • Translational Activator Of COX I 2 3
  • CCDC44 3 4
  • Translational Activator Of Mitochondrially-Encoded Cytochrome C Oxidase I 4
  • Coiled-Coil Domain Containing 44 2
  • Clone HQ0477 PRO0477p 3
  • MC4DN8 3
  • TACO1 5

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 Mitochondrial Complex Iv Deficiency, Nuclear Type 8 and Mitochondrial Complex Iv Deficiency, Nuclear Type 1. Among its related pathways are TP53 Regulates Metabolic Genes and Gene Expression.

UniProtKB/Swiss-Prot Summary for TACO1 Gene

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

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TACO1 Gene

Genomics for TACO1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TACO1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TACO1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TACO1

Genomic Locations for TACO1 Gene

Latest Assembly
chr17:63,600,882-63,608,365
(GRCh38/hg38)
Size:
7,484 bases
Orientation:
Plus strand

Previous Assembly
chr17:61,678,254-61,685,725
(GRCh37/hg19 by Entrez Gene)
Size:
7,472 bases
Orientation:
Plus strand

chr17:61,678,231-61,685,725
(GRCh37/hg19 by Ensembl)
Size:
7,495 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

Post-translational modifications for TACO1 Gene

  • Ubiquitination at Lys170
  • Modification sites at PhosphoSitePlus

Other Protein References for TACO1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for TACO1
  • Santa Cruz Biotechnology (SCBT) Antibodies for TACO1

No data available for DME Specific Peptides for TACO1 Gene

Domains & Families for TACO1 Gene

Gene Families for TACO1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TACO1 Gene

InterPro:
Blocks:
  • Protein of unknown function DUF28

Suggested Antigen Peptide Sequences for TACO1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ36733 fis, clone UTERU2012856, weakly similar to 26.4 kDa PROTEIN IN RUVC-ASPS INTERGENIC REGION (Q8N9Q7_HUMAN)
  • Translational activator of mitochondrially-encoded cytochrome c oxidase I (TACO1_HUMAN)

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

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 From GWAS Catalog for TACO1 Gene

Gene Ontology (GO) - Molecular Function for TACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003729 mRNA binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0019843 rRNA binding IEA --
GO:0097177 mitochondrial ribosome binding IEA --
genes like me logo Genes that share ontologies with TACO1: view
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

miRNA for TACO1 Gene

miRTarBase miRNAs that target TACO1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TACO1

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TACO1 gene
Compartment Confidence
mitochondrion 5
nucleus 2
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,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

Gene Ontology (GO) - Biological Process for TACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation IEA --
GO:0033617 mitochondrial respiratory chain complex IV assembly IEA --
GO:0061743 motor learning IEA --
GO:0070129 regulation of mitochondrial translation IEA --
GO:1904959 regulation of cytochrome-c oxidase activity IEA --
genes like me logo Genes that share ontologies with TACO1: view

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

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TACO1

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

No ASD Table

Relevant External Links for TACO1 Gene

GeneLoc Exon Structure for
TACO1

Expression for TACO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TACO1 Gene



Protein tissue co-expression partners for TACO1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TACO1

SOURCE GeneReport for Unigene cluster for TACO1 Gene:

Hs.174134

Evidence on tissue expression from TISSUES for TACO1 Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TACO1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with TACO1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia TACO1 29 30
  • 99.21 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC100856685 29
  • 87.32 (n)
TACO1 30
  • 85 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TACO1 29 30
  • 86.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Taco1 29 16 30
  • 82.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Taco1 29
  • 82.14 (n)
Oppossum
(Monodelphis domestica)
Mammalia TACO1 30
  • 59 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TACO1 30
  • 58 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TACO1 30
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia taco1 29
  • 61.02 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:162204 29
  • 55.56 (n)
TACO1 (2 of 2) 30
  • 45 (a)
OneToMany
TACO1 (1 of 2) 30
  • 40 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001629 29
  • 45.34 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4957 29 30
  • 42.23 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y50D7A.9 29
  • 42.97 (n)
taco-1 30
  • 27 (a)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04378g 29
  • 47.23 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YGR021W 29
  • 44.81 (n)
-- 30
  • 26 (a)
OneToOne
-- 32
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL053C 29
  • 44.53 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G25830 29
  • 45.85 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0519800 29
  • 44.54 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU10169 29
  • 44.74 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC8D2.12c 29
  • 44.62 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10468 30
  • 19 (a)
OneToOne
Species where no ortholog for TACO1 was found in the sources mined by GeneCards:
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TACO1: view image
Alliance of Genome Resources:
Additional Orthologs for TACO1

Paralogs for TACO1 Gene

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

  • TACO1_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TACO1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1029447 Uncertain Significance: Mitochondrial complex IV deficiency 63,606,401(+) A/G
NM_016360.4(TACO1):c.476A>G (p.Lys159Arg)
MISSENSE
1033410 Pathogenic: Mitochondrial complex IV deficiency 63,601,175(+) A/AC
NM_016360.4(TACO1):c.97dup (p.Arg33fs)
FRAMESHIFT
889083 Uncertain Significance: Mitochondrial complex IV deficiency 63,607,409(+) C/A
NM_016360.4(TACO1):c.638C>A (p.Ala213Glu)
MISSENSE
889084 Uncertain Significance: Mitochondrial complex IV deficiency 63,607,982(+) G/A
NM_016360.4(TACO1):c.874G>A (p.Val292Ile)
MISSENSE
889778 Uncertain Significance: Mitochondrial complex IV deficiency 63,608,031(+) C/T
NM_016360.4(TACO1):c.*29C>T
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TACO1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for TACO1 Gene

Human Gene Mutation Database (HGMD)
TACO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TACO1
Leiden Open Variation Database (LOVD)
TACO1

SNP Genotyping and Copy Number Assays for research

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

(7) MalaCards diseases for TACO1 Gene - From: OMI, CVR, ORP, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for TACO1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 EA (Nature genetics 2009) 2 3 4 72
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  3. Clinical and neuropathological findings in patients with TACO1 mutations. (PMID: 20727754) Seeger J … Horvath R (Neuromuscular disorders : NMD 2010) 3 72
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for TACO1 Gene

Sources for TACO1 Gene