UniProtKB - Q9BSH4 (TACO1_HUMAN)
Protein
Translational activator of cytochrome c oxidase 1
Gene
TACO1
Organism
Homo sapiens (Human)
Status
Functioni
Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1.1 Publication
GO - Molecular functioni
- mitochondrial ribosome binding Source: Ensembl
- mRNA binding Source: Ensembl
- rRNA binding Source: Ensembl
GO - Biological processi
- mitochondrial cytochrome c oxidase assembly Source: Ensembl
- motor learning Source: Ensembl
- regulation of cytochrome-c oxidase activity Source: Ensembl
- regulation of mitochondrial translation Source: Ensembl
Keywordsi
Molecular function | Activator |
Biological process | Translation regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9BSH4 |
Reactomei | R-HSA-5628897, TP53 Regulates Metabolic Genes R-HSA-611105, Respiratory electron transport |
Names & Taxonomyi
Protein namesi | Recommended name: Translational activator of cytochrome c oxidase 1Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000136463.7 |
HGNCi | HGNC:24316, TACO1 |
MIMi | 612958, gene |
neXtProti | NX_Q9BSH4 |
Subcellular locationi
Mitochondrion
- Mitochondrion 1 Publication
Mitochondrion
- mitochondrion Source: HPA
Keywords - Cellular componenti
MitochondrionPathology & 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.
Related information in OMIMKeywords - Diseasei
Leigh syndrome, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 51204 |
MalaCardsi | TACO1 |
MIMi | 256000, phenotype |
OpenTargetsi | ENSG00000136463 |
Orphaneti | 255241, Leigh syndrome with leukodystrophy |
PharmGKBi | PA165433031 |
Miscellaneous databases
Pharosi | Q9BSH4, Tdark |
Polymorphism and mutation databases
BioMutai | TACO1 |
DMDMi | 33516968 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000175942 | 1 – 297 | Translational activator of cytochrome c oxidase 1Add BLAST | 297 |
Proteomic databases
EPDi | Q9BSH4 |
jPOSTi | Q9BSH4 |
MassIVEi | Q9BSH4 |
MaxQBi | Q9BSH4 |
PaxDbi | Q9BSH4 |
PeptideAtlasi | Q9BSH4 |
PRIDEi | Q9BSH4 |
ProteomicsDBi | 78893 |
PTM databases
iPTMneti | Q9BSH4 |
PhosphoSitePlusi | Q9BSH4 |
SwissPalmi | Q9BSH4 |
Expressioni
Gene expression databases
Bgeei | ENSG00000136463, Expressed in right lobe of liver and 217 other tissues |
Genevisiblei | Q9BSH4, HS |
Organism-specific databases
HPAi | ENSG00000136463, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsQ9BSH4
Protein-protein interaction databases
BioGRIDi | 119377, 33 interactors |
IntActi | Q9BSH4, 30 interactors |
STRINGi | 9606.ENSP00000258975 |
Miscellaneous databases
RNActi | Q9BSH4, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 191 – 227 | Sequence analysisAdd BLAST | 37 |
Sequence similaritiesi
Belongs to the TACO1 family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG2972, Eukaryota |
GeneTreei | ENSGT00390000012820 |
HOGENOMi | CLU_062974_3_0_1 |
InParanoidi | Q9BSH4 |
OMAi | ETIMYEG |
OrthoDBi | 1199273at2759 |
PhylomeDBi | Q9BSH4 |
TreeFami | TF300070 |
Family and domain databases
Gene3Di | 1.10.10.200, 1 hit 3.30.70.980, 2 hits |
HAMAPi | MF_00693, Transcrip_reg_TACO1, 1 hit |
InterProi | View protein in InterPro IPR017856, Integrase-like_N IPR002876, Transcrip_reg_TACO1-like IPR026564, Transcrip_reg_TACO1-like_dom3 IPR029072, YebC-like |
PANTHERi | PTHR12532, PTHR12532, 1 hit |
Pfami | View protein in Pfam PF01709, Transcrip_reg, 1 hit |
SUPFAMi | SSF75625, SSF75625, 1 hit |
i Sequence
Sequence statusi: Complete.
Q9BSH4-1 [UniParc]FASTAAdd to basket
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 168 | L → M in AAF24044 (Ref. 5) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052934 | 145 | G → 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 |
CCDSi | CCDS11640.1 |
RefSeqi | NP_057444.2, NM_016360.3 |
Genome annotation databases
Ensembli | ENST00000258975; ENSP00000258975; ENSG00000136463 |
GeneIDi | 51204 |
KEGGi | hsa:51204 |
UCSCi | uc002jbd.3, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS11640.1 |
RefSeqi | NP_057444.2, NM_016360.3 |
3D structure databases
SMRi | Q9BSH4 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119377, 33 interactors |
IntActi | Q9BSH4, 30 interactors |
STRINGi | 9606.ENSP00000258975 |
PTM databases
iPTMneti | Q9BSH4 |
PhosphoSitePlusi | Q9BSH4 |
SwissPalmi | Q9BSH4 |
Polymorphism and mutation databases
BioMutai | TACO1 |
DMDMi | 33516968 |
Proteomic databases
EPDi | Q9BSH4 |
jPOSTi | Q9BSH4 |
MassIVEi | Q9BSH4 |
MaxQBi | Q9BSH4 |
PaxDbi | Q9BSH4 |
PeptideAtlasi | Q9BSH4 |
PRIDEi | Q9BSH4 |
ProteomicsDBi | 78893 |
Protocols and materials databases
Antibodypediai | 18674, 173 antibodies |
DNASUi | 51204 |
Genome annotation databases
Ensembli | ENST00000258975; ENSP00000258975; ENSG00000136463 |
GeneIDi | 51204 |
KEGGi | hsa:51204 |
UCSCi | uc002jbd.3, human |
Organism-specific databases
CTDi | 51204 |
DisGeNETi | 51204 |
EuPathDBi | HostDB:ENSG00000136463.7 |
GeneCardsi | TACO1 |
HGNCi | HGNC:24316, TACO1 |
HPAi | ENSG00000136463, Low tissue specificity |
MalaCardsi | TACO1 |
MIMi | 256000, phenotype 612958, gene |
neXtProti | NX_Q9BSH4 |
OpenTargetsi | ENSG00000136463 |
Orphaneti | 255241, Leigh syndrome with leukodystrophy |
PharmGKBi | PA165433031 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2972, Eukaryota |
GeneTreei | ENSGT00390000012820 |
HOGENOMi | CLU_062974_3_0_1 |
InParanoidi | Q9BSH4 |
OMAi | ETIMYEG |
OrthoDBi | 1199273at2759 |
PhylomeDBi | Q9BSH4 |
TreeFami | TF300070 |
Enzyme and pathway databases
PathwayCommonsi | Q9BSH4 |
Reactomei | R-HSA-5628897, TP53 Regulates Metabolic Genes R-HSA-611105, Respiratory electron transport |
Miscellaneous databases
BioGRID-ORCSi | 51204, 7 hits in 842 CRISPR screens |
ChiTaRSi | TACO1, human |
GenomeRNAii | 51204 |
Pharosi | Q9BSH4, Tdark |
PROi | PR:Q9BSH4 |
RNActi | Q9BSH4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136463, Expressed in right lobe of liver and 217 other tissues |
Genevisiblei | Q9BSH4, HS |
Family and domain databases
Gene3Di | 1.10.10.200, 1 hit 3.30.70.980, 2 hits |
HAMAPi | MF_00693, Transcrip_reg_TACO1, 1 hit |
InterProi | View protein in InterPro IPR017856, Integrase-like_N IPR002876, Transcrip_reg_TACO1-like IPR026564, Transcrip_reg_TACO1-like_dom3 IPR029072, YebC-like |
PANTHERi | PTHR12532, PTHR12532, 1 hit |
Pfami | View protein in Pfam PF01709, Transcrip_reg, 1 hit |
SUPFAMi | SSF75625, SSF75625, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TACO1_HUMAN | |
Accessioni | Q9BSH4Primary (citable) accession number: Q9BSH4 Secondary accession number(s): B2RD21, Q8N3N6, Q9UI60 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 4, 2003 |
Last sequence update: | June 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 149 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Uncharacterized protein families (UPF)
List of uncharacterized protein family (UPF) entries - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations