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Protein

Translational activator of cytochrome c oxidase 1

Gene

TACO1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Keywordsi

Molecular functionActivator
Biological processTranslation regulation

Enzyme and pathway databases

ReactomeiR-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport

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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000136463.7
HGNCiHGNC:24316 TACO1
MIMi612958 gene
neXtProtiNX_Q9BSH4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Leigh syndrome (LS)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:256000

Keywords - Diseasei

Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNETi51204
MalaCardsiTACO1
MIMi256000 phenotype
OpenTargetsiENSG00000136463
Orphaneti70474 Leigh syndrome with cardiomyopathy
PharmGKBiPA165433031

Polymorphism and mutation databases

BioMutaiTACO1
DMDMi33516968

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001759421 – 297Translational activator of cytochrome c oxidase 1Add BLAST297

Proteomic databases

EPDiQ9BSH4
MaxQBiQ9BSH4
PaxDbiQ9BSH4
PeptideAtlasiQ9BSH4
PRIDEiQ9BSH4
ProteomicsDBi78893

PTM databases

iPTMnetiQ9BSH4
PhosphoSitePlusiQ9BSH4
SwissPalmiQ9BSH4

Expressioni

Gene expression databases

BgeeiENSG00000136463
CleanExiHS_CCDC44
GenevisibleiQ9BSH4 HS

Organism-specific databases

HPAiHPA021626
HPA021643
HPA024294

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SAT1P216733EBI-747797,EBI-711613

Protein-protein interaction databases

BioGridi119377, 8 interactors
IntActiQ9BSH4, 26 interactors
STRINGi9606.ENSP00000258975

Structurei

3D structure databases

ProteinModelPortaliQ9BSH4
SMRiQ9BSH4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili191 – 227Sequence analysisAdd BLAST37

Sequence similaritiesi

Belongs to the TACO1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG2972 Eukaryota
COG0217 LUCA
GeneTreeiENSGT00390000012820
HOGENOMiHOG000228370
InParanoidiQ9BSH4
KOiK18189
OMAiKWSTIKH
OrthoDBiEOG091G0I1M
PhylomeDBiQ9BSH4
TreeFamiTF300070

Family and domain databases

Gene3Di1.10.10.200, 1 hit
3.30.70.980, 3 hits
HAMAPiMF_00693 Transcrip_reg_TACO1, 1 hit
InterProiView protein in InterPro
IPR017856 Integrase-like_N
IPR002876 Transcrip_reg_TACO1-like
IPR026564 Transcrip_reg_TACO1-like_dom3
IPR029072 YebC-like
PANTHERiPTHR12532 PTHR12532, 1 hit
PfamiView protein in Pfam
PF01709 Transcrip_reg, 1 hit
SUPFAMiSSF75625 SSF75625, 1 hit

Sequencei

Sequence statusi: Complete.

Q9BSH4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSAWAAASLS RAAARCLLAR GPGVRAAPPR DPRPSHPEPR GCGAAPGRTL
60 70 80 90 100
HFTAAVPAGH NKWSKVRHIK GPKDVERSRI FSKLCLNIRL AVKEGGPNPE
110 120 130 140 150
HNSNLANILE VCRSKHMPKS TIETALKMEK SKDTYLLYEG RGPGGSSLLI
160 170 180 190 200
EALSNSSHKC QADIRHILNK NGGVMAVGAR HSFDKKGVIV VEVEDREKKA
210 220 230 240 250
VNLERALEMA IEAGAEDVKE TEDEEERNVF KFICDASSLH QVRKKLDSLG
260 270 280 290
LCSVSCALEF IPNSKVQLAE PDLEQAAHLI QALSNHEDVI HVYDNIE
Length:297
Mass (Da):32,477
Last modified:June 1, 2001 - v1
Checksum:i079C4716F32EE6FF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti168L → M in AAF24044 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052934145G → S. Corresponds to variant dbSNP:rs35252424EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTACO1_HUMAN
AccessioniPrimary (citable) accession number: Q9BSH4
Secondary accession number(s): B2RD21, Q8N3N6, Q9UI60
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 4, 2003
Last sequence update: June 1, 2001
Last modified: July 18, 2018
This is version 134 of the entry and version 1 of the sequence. See 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

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