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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
  • Coiled-Coil Domain-Containing Protein 44 3 4
  • CCDC44 3 4
  • Translational Activator Of Mitochondrially-Encoded Cytochrome C Oxidase I 4
  • Translational Activator Of Cytochrome C Oxidase 1 3
  • 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.

Additional gene information for TACO1 Gene

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

Genomics for TACO1 Gene

GeneHancer (GH) Regulatory Elements for TACO1 Gene

Promoters and enhancers for TACO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J063600 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.4 404 2.5 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 TACO1 FTSJ3 POLG2 DDX42 CEP95 DDX5 SMARCD2 DCAF7 MAP3K3 CSH2
GH17J063549 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 11.6 -49.9 -49872 3.9 CLOCK ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 DCAF7 FTSJ3 DDX42 POLG2 CEP95 CSH2 ENSG00000263501 ENSG00000259333 LOC100419888 TRMT112P3
GH17J063431 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.8 -166.3 -166344 6.6 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A YBX1 FEZF1 CYB561 DDX42 FTSJ3 PPIAP55 ACE TACO1 SMARCD2 PIR45110 ENSG00000265282 GC17M063420
GH17J063674 Enhancer 1.8 VISTA Ensembl ENCODE dbSUPER 10.6 +75.1 75109 3.5 HDGF SMAD1 ZFP64 SIN3A YY1 GATA2 ZNF207 ATF7 DEK REST FTSJ3 SMARCD2 DDX5 POLG2 DDX42 CEP95 LIMD2 ERN1 STRADA ENSG00000125695
GH17J063633 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.6 +33.4 33437 1.4 HDGF MEIS2 ATF1 LEF1 JUN TAL1 NFXL1 ATF7 ZNF639 L3MBTL2 GC17M063634 TACO1 MAP3K3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TACO1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TACO1 Gene

Genomic Locations for TACO1 Gene
chr17:63,600,872-63,608,365
(GRCh38/hg38)
Size:
7,494 bases
Orientation:
Plus strand
chr17:61,678,231-61,685,725
(GRCh37/hg19)

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 isoforms=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

Gene Families for TACO1 Gene

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

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.

Gene Ontology (GO) - Molecular Function for TACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
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

Animal Model Products

CRISPR Products

miRNA for TACO1 Gene

miRTarBase miRNAs that target TACO1

Inhibitory RNA Products

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 5
peroxisome 2

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:0005634 nucleus IDA --
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 --
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

(126) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TACO1 Gene

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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of TACO1 Gene:

TACO1

SOURCE GeneReport for Unigene cluster for TACO1 Gene:

Hs.174134

Evidence on tissue expression from TISSUES for TACO1 Gene

  • Nervous system(4.4)
  • Liver(4.3)

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 34 33
  • 99.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC100856685 33
  • 87.32 (n)
TACO1 34
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TACO1 34 33
  • 86.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Taco1 16 34 33
  • 82.92 (n)
rat
(Rattus norvegicus)
Mammalia Taco1 33
  • 82.14 (n)
oppossum
(Monodelphis domestica)
Mammalia TACO1 34
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TACO1 34
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TACO1 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia taco1 33
  • 61.02 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:162204 33
  • 55.56 (n)
TACO1 (2 of 2) 34
  • 45 (a)
OneToMany
TACO1 (1 of 2) 34
  • 40 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001629 33
  • 45.34 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4957 34 33
  • 42.23 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y50D7A.9 33
  • 42.97 (n)
taco-1 34
  • 27 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04378g 33
  • 47.23 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YGR021W 33
  • 44.81 (n)
-- 34
  • 26 (a)
OneToOne
-- 36
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL053C 33
  • 44.53 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G25830 33
  • 45.85 (n)
rice
(Oryza sativa)
Liliopsida Os05g0519800 33
  • 44.54 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU10169 33
  • 44.74 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC8D2.12c 33
  • 44.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10468 34
  • 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 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

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 from dbSNP and Humsavar for TACO1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs17549732 benign, uncertain-significance, not specified, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 63,606,423(+) T/C coding_sequence_variant, synonymous_variant
rs191442785 uncertain-significance, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 63,608,046(+) G/T 3_prime_UTR_variant
rs35252424 benign, not specified, not provided 63,606,358(+) G/A coding_sequence_variant, missense_variant
rs534248303 uncertain-significance, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 63,601,344(+) C/T coding_sequence_variant, synonymous_variant
rs540772284 uncertain-significance, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 63,600,907(+) C/T 5_prime_UTR_variant

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

SNP Genotyping and Copy Number Assay Products

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
  • cms16
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leigh syndrome
  • ls
congenital myasthenic syndrome
  • familial limb-girdle myasthenia
- 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.

Additional Disease Information for TACO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 58

Products for TACO1 Gene

Sources for TACO1 Gene

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