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Q9BSH4 (TACO1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:TACO1
Synonyms:CCDC44
ORF Names:PRO0477
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length297 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Ref.6

Subcellular location

Mitochondrion Ref.6.

Involvement in disease

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. Ref.6

Sequence similarities

Belongs to the TACO1 family.

Ontologies

Keywords
   Biological processTranslation regulation
   Cellular componentMitochondrion
   Coding sequence diversityPolymorphism
   DiseaseLeigh syndrome
   DomainCoiled coil
   Molecular functionActivator
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of translation

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentmitochondrion

Inferred from direct assay. Source: HPA

nucleus

Inferred from direct assay. Source: HPA

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 297297Translational activator of cytochrome c oxidase 1 HAMAP-Rule MF_00693
PRO_0000175942

Regions

Coiled coil191 – 22737 Potential

Natural variations

Natural variant1451G → S.
Corresponds to variant rs35252424 [ dbSNP | Ensembl ].
VAR_052934

Experimental info

Sequence conflict1681L → M in AAF24044. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q9BSH4 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 079C4716F32EE6FF

FASTA29732,477
        10         20         30         40         50         60 
MSAWAAASLS RAAARCLLAR GPGVRAAPPR DPRPSHPEPR GCGAAPGRTL HFTAAVPAGH 

        70         80         90        100        110        120 
NKWSKVRHIK GPKDVERSRI FSKLCLNIRL AVKEGGPNPE HNSNLANILE VCRSKHMPKS 

       130        140        150        160        170        180 
TIETALKMEK SKDTYLLYEG RGPGGSSLLI EALSNSSHKC QADIRHILNK NGGVMAVGAR 

       190        200        210        220        230        240 
HSFDKKGVIV VEVEDREKKA VNLERALEMA IEAGAEDVKE TEDEEERNVF KFICDASSLH 

       250        260        270        280        290 
QVRKKLDSLG LCSVSCALEF IPNSKVQLAE PDLEQAAHLI QALSNHEDVI HVYDNIE 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11640.1.
RefSeqNP_057444.2. NM_016360.3.
UniGeneHs.174134.

3D structure databases

ProteinModelPortalQ9BSH4.
SMRQ9BSH4. Positions 63-297.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119377. 6 interactions.
IntActQ9BSH4. 2 interactions.
MINTMINT-1460586.
STRING9606.ENSP00000258975.

PTM databases

PhosphoSiteQ9BSH4.

Polymorphism databases

DMDM33516968.

Proteomic databases

MaxQBQ9BSH4.
PaxDbQ9BSH4.
PeptideAtlasQ9BSH4.
PRIDEQ9BSH4.

Protocols and materials databases

DNASU51204.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258975; ENSP00000258975; ENSG00000136463.
GeneID51204.
KEGGhsa:51204.
UCSCuc002jbd.3. human.

Organism-specific databases

CTD51204.
GeneCardsGC17P061678.
HGNCHGNC:24316. TACO1.
HPAHPA021626.
HPA021643.
HPA024294.
MIM256000. phenotype.
612958. gene.
neXtProtNX_Q9BSH4.
Orphanet70474. Leigh syndrome with cardiomyopathy.
PharmGKBPA165433031.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0217.
HOGENOMHOG000228370.
InParanoidQ9BSH4.
KOK18189.
OMAMIPQTEV.
OrthoDBEOG72NRR5.
PhylomeDBQ9BSH4.
TreeFamTF300070.

Gene expression databases

ArrayExpressQ9BSH4.
BgeeQ9BSH4.
CleanExHS_CCDC44.
GenevestigatorQ9BSH4.

Family and domain databases

Gene3D1.10.10.200. 1 hit.
3.30.1270.10. 2 hits.
3.30.70.980. 1 hit.
HAMAPMF_00693. Transcrip_reg_TACO1.
InterProIPR017856. 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]
PANTHERPTHR12532. PTHR12532. 1 hit.
PfamPF01709. Transcrip_reg. 1 hit.
[Graphical view]
SUPFAMSSF75625. SSF75625. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi51204.
NextBio54250.
PROQ9BSH4.
SOURCESearch...

Entry information

Entry nameTACO1_HUMAN
AccessionPrimary (citable) accession number: Q9BSH4
Secondary accession number(s): B2RD21, Q8N3N6, Q9UI60
Entry history
Integrated into UniProtKB/Swiss-Prot: August 4, 2003
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Uncharacterized protein families (UPF)

List of uncharacterized protein family (UPF) entries

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM