Q9BSH4 (TACO1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	TACO1
Synonyms:	CCDC44
ORF Names:	PRO0477

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	297 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Translation regulation
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Disease	Leigh syndrome
Domain	Coiled coil
Molecular function	Activator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of translation Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	mitochondrion Inferred from direct assay. Source: HPA
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 297	297	Translational activator of cytochrome c oxidase 1		PRO_0000175942
Regions
	Coiled coil	191 – 227	37	Potential
Natural variations
	Natural variant	145	1	G → S. Corresponds to variant rs35252424 [ dbSNP | Ensembl ].		VAR_052934
Experimental info
	Sequence conflict	168	1	L → M in AAF24044. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q9BSH4 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 079C4716F32EE6FF	FASTA	297	32,477
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00019903.
RefSeq	NP_057444.2. NM_016360.3.
UniGene	Hs.174134.
3D structure databases
ProteinModelPortal	Q9BSH4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BSH4. 1 interaction.
MINT	MINT-1460586.
STRING	9606.ENSP00000258975.
PTM databases
PhosphoSite	Q9BSH4.
Polymorphism databases
DMDM	33516968.
Proteomic databases
PaxDb	Q9BSH4.
PeptideAtlas	Q9BSH4.
PRIDE	Q9BSH4.
Protocols and materials databases
DNASU	51204.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000258975; ENSP00000258975; ENSG00000136463.
GeneID	51204.
KEGG	hsa:51204.
UCSC	uc002jbd.3. human.
Organism-specific databases
CTD	51204.
GeneCards	GC17P061678.
HGNC	HGNC:24316. TACO1.
HPA	HPA021626. HPA021643. HPA024294.
MIM	256000. phenotype. 612958. gene.
neXtProt	NX_Q9BSH4.
Orphanet	70474. Leigh syndrome with cardiomyopathy.
PharmGKB	PA165433031.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0217.
HOGENOM	HOG000228370.
InParanoid	Q9BSH4.
OMA	PDGNPTL.
OrthoDB	EOG4D26QM.
PhylomeDB	Q9BSH4.
Gene expression databases
ArrayExpress	Q9BSH4.
Bgee	Q9BSH4.
CleanEx	HS_CCDC44.
Genevestigator	Q9BSH4.
GermOnline	ENSG00000136463. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.200. 1 hit. 3.30.1270.10. 2 hits. 3.30.70.980. 1 hit.
InterPro	IPR017856. Integrase_Zn-bd_dom-like_N. IPR002876. Transcrip_reg_TACO1-like. IPR026563. Transcrip_reg_TACO1-like_dom2. IPR026564. Transcrip_reg_TACO1-like_dom3. [Graphical view]
PANTHER	PTHR12532. PTHR12532. 1 hit.
Pfam	PF01709. Transcrip_reg. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	51204.
NextBio	54250.
SOURCE	Search...

Entry information

Entry name

TACO1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 86 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.