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Q9BSH4

- TACO1_HUMAN

UniProt

Q9BSH4 - TACO1_HUMAN

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Protein

Translational activator of cytochrome c oxidase 1

Gene

TACO1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

  1. regulation of translation Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Translation regulation

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.
REACT_267716. Orphan transporters.

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:24316. TACO1.

Subcellular locationi

Mitochondrion 1 Publication

GO - Cellular componenti

  1. mitochondrion Source: HPA
  2. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Leigh syndrome

Organism-specific databases

MIMi256000. phenotype.
Orphaneti70474. Leigh syndrome with cardiomyopathy.
PharmGKBiPA165433031.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 297297Translational activator of cytochrome c oxidase 1PRO_0000175942Add
BLAST

Proteomic databases

MaxQBiQ9BSH4.
PaxDbiQ9BSH4.
PeptideAtlasiQ9BSH4.
PRIDEiQ9BSH4.

PTM databases

PhosphoSiteiQ9BSH4.

Expressioni

Gene expression databases

BgeeiQ9BSH4.
CleanExiHS_CCDC44.
ExpressionAtlasiQ9BSH4. baseline and differential.
GenevestigatoriQ9BSH4.

Organism-specific databases

HPAiHPA021626.
HPA021643.
HPA024294.

Interactioni

Protein-protein interaction databases

BioGridi119377. 8 interactions.
IntActiQ9BSH4. 2 interactions.
MINTiMINT-1460586.
STRINGi9606.ENSP00000258975.

Structurei

3D structure databases

ProteinModelPortaliQ9BSH4.
SMRiQ9BSH4. Positions 63-297.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili191 – 22737Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the TACO1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiCOG0217.
GeneTreeiENSGT00390000012820.
HOGENOMiHOG000228370.
InParanoidiQ9BSH4.
KOiK18189.
OMAiMIPQTEV.
OrthoDBiEOG72NRR5.
PhylomeDBiQ9BSH4.
TreeFamiTF300070.

Family and domain databases

Gene3Di1.10.10.200. 1 hit.
3.30.1270.10. 2 hits.
3.30.70.980. 1 hit.
HAMAPiMF_00693. Transcrip_reg_TACO1.
InterProiIPR017856. Integrase_Zn-bd_dom-like_N.
IPR002876. Transcrip_reg_TACO1-like.
IPR026563. Transcrip_reg_TACO1-like_dom2.
IPR026564. Transcrip_reg_TACO1-like_dom3.
IPR029072. YebC-like.
[Graphical view]
PANTHERiPTHR12532. PTHR12532. 1 hit.
PfamiPF01709. Transcrip_reg. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti168 – 1681L → M in AAF24044. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti145 – 1451G → S.
Corresponds to variant rs35252424 [ dbSNP | Ensembl ].
VAR_052934

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.

Polymorphism databases

DMDMi33516968.

Keywords - Coding sequence diversityi

Polymorphism

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.
UniGenei Hs.174134.

3D structure databases

ProteinModelPortali Q9BSH4.
SMRi Q9BSH4. Positions 63-297.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119377. 8 interactions.
IntActi Q9BSH4. 2 interactions.
MINTi MINT-1460586.
STRINGi 9606.ENSP00000258975.

PTM databases

PhosphoSitei Q9BSH4.

Polymorphism databases

DMDMi 33516968.

Proteomic databases

MaxQBi Q9BSH4.
PaxDbi Q9BSH4.
PeptideAtlasi Q9BSH4.
PRIDEi Q9BSH4.

Protocols and materials databases

DNASUi 51204.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000258975 ; ENSP00000258975 ; ENSG00000136463 .
GeneIDi 51204.
KEGGi hsa:51204.
UCSCi uc002jbd.3. human.

Organism-specific databases

CTDi 51204.
GeneCardsi GC17P061678.
HGNCi HGNC:24316. TACO1.
HPAi HPA021626.
HPA021643.
HPA024294.
MIMi 256000. phenotype.
612958. gene.
neXtProti NX_Q9BSH4.
Orphaneti 70474. Leigh syndrome with cardiomyopathy.
PharmGKBi PA165433031.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0217.
GeneTreei ENSGT00390000012820.
HOGENOMi HOG000228370.
InParanoidi Q9BSH4.
KOi K18189.
OMAi MIPQTEV.
OrthoDBi EOG72NRR5.
PhylomeDBi Q9BSH4.
TreeFami TF300070.

Enzyme and pathway databases

Reactomei REACT_22393. Respiratory electron transport.
REACT_267716. Orphan transporters.

Miscellaneous databases

ChiTaRSi TACO1. human.
GenomeRNAii 51204.
NextBioi 54250.
PROi Q9BSH4.
SOURCEi Search...

Gene expression databases

Bgeei Q9BSH4.
CleanExi HS_CCDC44.
ExpressionAtlasi Q9BSH4. baseline and differential.
Genevestigatori Q9BSH4.

Family and domain databases

Gene3Di 1.10.10.200. 1 hit.
3.30.1270.10. 2 hits.
3.30.70.980. 1 hit.
HAMAPi MF_00693. Transcrip_reg_TACO1.
InterProi IPR017856. Integrase_Zn-bd_dom-like_N.
IPR002876. Transcrip_reg_TACO1-like.
IPR026563. Transcrip_reg_TACO1-like_dom2.
IPR026564. Transcrip_reg_TACO1-like_dom3.
IPR029072. YebC-like.
[Graphical view ]
PANTHERi PTHR12532. PTHR12532. 1 hit.
Pfami PF01709. Transcrip_reg. 1 hit.
[Graphical view ]
SUPFAMi SSF75625. SSF75625. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Amygdala.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Placenta.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 126-297.
    Tissue: Melanoma.
  5. "Functional prediction of the coding sequences of 50 new genes deduced by analysis of cDNA clones from human fetal liver."
    Yu Y., Zhang C., Luo L., Ouyang S., Zhang S., Li W., Wu J., Zhou S., Liu M., He F.
    Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 168-297.
    Tissue: Fetal liver.
  6. "Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome."
    Weraarpachai W., Antonicka H., Sasarman F., Seeger J., Schrank B., Kolesar J.E., Lochmueller H., Chevrette M., Kaufman B.A., Horvath R., Shoubridge E.A.
    Nat. Genet. 41:833-837(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, DISEASE.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiTACO1_HUMAN
AccessioniPrimary (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: November 26, 2014
This is version 100 of the entry and version 1 of the sequence. [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

External Data

Dasty 3