TACO1_HUMAN
ID TACO1_HUMAN Reviewed; 297 AA.
AC Q9BSH4; B2RD21; Q8N3N6; Q9UI60;
DT 04-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Translational activator of cytochrome c oxidase 1;
DE AltName: Full=Coiled-coil domain-containing protein 44;
DE AltName: Full=Translational activator of mitochondrially-encoded cytochrome c oxidase I;
GN Name=TACO1; Synonyms=CCDC44; ORFNames=PRO0477;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Amygdala;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, and Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 126-297.
RC TISSUE=Melanoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 168-297.
RC TISSUE=Fetal liver;
RA Yu Y., Zhang C., Luo L., Ouyang S., Zhang S., Li W., Wu J., Zhou S.,
RA Liu M., He F.;
RT "Functional prediction of the coding sequences of 50 new genes deduced by
RT analysis of cDNA clones from human fetal liver.";
RL Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP FUNCTION, SUBCELLULAR LOCATION, AND INVOLVEMENT IN MC4DN8.
RX PubMed=19503089; DOI=10.1038/ng.390;
RA Weraarpachai W., Antonicka H., Sasarman F., Seeger J., Schrank B.,
RA Kolesar J.E., Lochmueller H., Chevrette M., Kaufman B.A., Horvath R.,
RA Shoubridge E.A.;
RT "Mutation in TACO1, encoding a translational activator of COX I, results in
RT cytochrome c oxidase deficiency and late-onset Leigh syndrome.";
RL Nat. Genet. 41:833-837(2009).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Acts as a translational activator of mitochondrially-encoded
CC cytochrome c oxidase 1. {ECO:0000269|PubMed:19503089}.
CC -!- INTERACTION:
CC Q9BSH4; Q13137: CALCOCO2; NbExp=3; IntAct=EBI-747797, EBI-739580;
CC Q9BSH4; A0PJX0: CIB4; NbExp=3; IntAct=EBI-747797, EBI-12868028;
CC Q9BSH4; Q01658: DR1; NbExp=3; IntAct=EBI-747797, EBI-750300;
CC Q9BSH4; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-747797, EBI-5916454;
CC Q9BSH4; Q9Y5Q9: GTF3C3; NbExp=3; IntAct=EBI-747797, EBI-1054873;
CC Q9BSH4; Q15323: KRT31; NbExp=3; IntAct=EBI-747797, EBI-948001;
CC Q9BSH4; O76011: KRT34; NbExp=3; IntAct=EBI-747797, EBI-1047093;
CC Q9BSH4; Q6A162: KRT40; NbExp=3; IntAct=EBI-747797, EBI-10171697;
CC Q9BSH4; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-747797, EBI-739832;
CC Q9BSH4; Q99750: MDFI; NbExp=3; IntAct=EBI-747797, EBI-724076;
CC Q9BSH4; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-747797, EBI-11522433;
CC Q9BSH4; Q96T49: PPP1R16B; NbExp=3; IntAct=EBI-747797, EBI-10293968;
CC Q9BSH4; Q6NUQ1: RINT1; NbExp=3; IntAct=EBI-747797, EBI-726876;
CC Q9BSH4; P21673: SAT1; NbExp=4; IntAct=EBI-747797, EBI-711613;
CC Q9BSH4; P36406: TRIM23; NbExp=3; IntAct=EBI-747797, EBI-740098;
CC Q9BSH4; P14373: TRIM27; NbExp=3; IntAct=EBI-747797, EBI-719493;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19503089}.
CC -!- DISEASE: Mitochondrial complex IV deficiency, nuclear type 8 (MC4DN8)
CC [MIM:619052]: An autosomal recessive mitochondrial disorder
CC characterized by slowly progressive cognitive dysfunction, dystonia or
CC visual impairment that appear after an uneventful early childhood.
CC Additional features include gait difficulties, spasticity, dysarthria,
CC hypotonia, and variable intellectual disability. Brain imaging shows
CC white matter abnormalities in the basal ganglia. Serum lactate levels
CC are increased. Patient tissues show decreased levels and activity of
CC mitochondrial respiratory complex IV. {ECO:0000269|PubMed:19503089}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the TACO1 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK315375; BAG37768.1; -; mRNA.
DR EMBL; CH471109; EAW94304.1; -; Genomic_DNA.
DR EMBL; BC005049; AAH05049.1; -; mRNA.
DR EMBL; BC007744; AAH07744.1; -; mRNA.
DR EMBL; AL833861; CAD38719.1; -; mRNA.
DR EMBL; AF090929; AAF24044.1; -; mRNA.
DR CCDS; CCDS11640.1; -.
DR RefSeq; NP_057444.2; NM_016360.3.
DR AlphaFoldDB; Q9BSH4; -.
DR SMR; Q9BSH4; -.
DR BioGRID; 119377; 330.
DR IntAct; Q9BSH4; 39.
DR MINT; Q9BSH4; -.
DR STRING; 9606.ENSP00000258975; -.
DR GlyGen; Q9BSH4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BSH4; -.
DR PhosphoSitePlus; Q9BSH4; -.
DR SwissPalm; Q9BSH4; -.
DR BioMuta; TACO1; -.
DR DMDM; 33516968; -.
DR EPD; Q9BSH4; -.
DR jPOST; Q9BSH4; -.
DR MassIVE; Q9BSH4; -.
DR MaxQB; Q9BSH4; -.
DR PaxDb; Q9BSH4; -.
DR PeptideAtlas; Q9BSH4; -.
DR PRIDE; Q9BSH4; -.
DR ProteomicsDB; 78893; -.
DR Antibodypedia; 18674; 180 antibodies from 26 providers.
DR DNASU; 51204; -.
DR Ensembl; ENST00000258975.7; ENSP00000258975.6; ENSG00000136463.9.
DR GeneID; 51204; -.
DR KEGG; hsa:51204; -.
DR MANE-Select; ENST00000258975.7; ENSP00000258975.6; NM_016360.4; NP_057444.2.
DR UCSC; uc002jbd.3; human.
DR CTD; 51204; -.
DR DisGeNET; 51204; -.
DR GeneCards; TACO1; -.
DR HGNC; HGNC:24316; TACO1.
DR HPA; ENSG00000136463; Tissue enhanced (liver).
DR MalaCards; TACO1; -.
DR MIM; 612958; gene.
DR MIM; 619052; phenotype.
DR neXtProt; NX_Q9BSH4; -.
DR OpenTargets; ENSG00000136463; -.
DR Orphanet; 255241; Leigh syndrome with leukodystrophy.
DR PharmGKB; PA165433031; -.
DR VEuPathDB; HostDB:ENSG00000136463; -.
DR eggNOG; KOG2972; Eukaryota.
DR GeneTree; ENSGT00390000012820; -.
DR HOGENOM; CLU_062974_3_0_1; -.
DR InParanoid; Q9BSH4; -.
DR OMA; ETIMYEG; -.
DR OrthoDB; 1199273at2759; -.
DR PhylomeDB; Q9BSH4; -.
DR TreeFam; TF300070; -.
DR PathwayCommons; Q9BSH4; -.
DR Reactome; R-HSA-5628897; TP53 Regulates Metabolic Genes.
DR Reactome; R-HSA-611105; Respiratory electron transport.
DR Reactome; R-HSA-9707564; Cytoprotection by HMOX1.
DR SignaLink; Q9BSH4; -.
DR BioGRID-ORCS; 51204; 13 hits in 1077 CRISPR screens.
DR ChiTaRS; TACO1; human.
DR GenomeRNAi; 51204; -.
DR Pharos; Q9BSH4; Tbio.
DR PRO; PR:Q9BSH4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BSH4; protein.
DR Bgee; ENSG00000136463; Expressed in apex of heart and 188 other tissues.
DR Genevisible; Q9BSH4; HS.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0097177; F:mitochondrial ribosome binding; IEA:Ensembl.
DR GO; GO:0003729; F:mRNA binding; IEA:Ensembl.
DR GO; GO:0019843; F:rRNA binding; IEA:Ensembl.
DR GO; GO:0033617; P:mitochondrial cytochrome c oxidase assembly; IEA:Ensembl.
DR GO; GO:0061743; P:motor learning; IEA:Ensembl.
DR GO; GO:1904959; P:regulation of cytochrome-c oxidase activity; IEA:Ensembl.
DR GO; GO:0070129; P:regulation of mitochondrial translation; IEA:Ensembl.
DR Gene3D; 1.10.10.200; -; 1.
DR Gene3D; 3.30.70.980; -; 2.
DR HAMAP; MF_00693; Transcrip_reg_TACO1; 1.
DR InterPro; IPR017856; Integrase-like_N.
DR InterPro; IPR002876; Transcrip_reg_TACO1-like.
DR InterPro; IPR026564; Transcrip_reg_TACO1-like_dom3.
DR InterPro; IPR029072; YebC-like.
DR PANTHER; PTHR12532; PTHR12532; 1.
DR Pfam; PF01709; Transcrip_reg; 1.
DR SUPFAM; SSF75625; SSF75625; 1.
PE 1: Evidence at protein level;
KW Activator; Coiled coil; Leigh syndrome; Mitochondrion;
KW Primary mitochondrial disease; Reference proteome; Translation regulation.
FT CHAIN 1..297
FT /note="Translational activator of cytochrome c oxidase 1"
FT /id="PRO_0000175942"
FT REGION 20..45
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 191..227
FT /evidence="ECO:0000255"
FT VARIANT 145
FT /note="G -> S (in dbSNP:rs35252424)"
FT /id="VAR_052934"
FT CONFLICT 168
FT /note="L -> M (in Ref. 5; AAF24044)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 297 AA; 32477 MW; 079C4716F32EE6FF CRC64;
MSAWAAASLS RAAARCLLAR GPGVRAAPPR DPRPSHPEPR GCGAAPGRTL HFTAAVPAGH
NKWSKVRHIK GPKDVERSRI FSKLCLNIRL AVKEGGPNPE HNSNLANILE VCRSKHMPKS
TIETALKMEK SKDTYLLYEG RGPGGSSLLI EALSNSSHKC QADIRHILNK NGGVMAVGAR
HSFDKKGVIV VEVEDREKKA VNLERALEMA IEAGAEDVKE TEDEEERNVF KFICDASSLH
QVRKKLDSLG LCSVSCALEF IPNSKVQLAE PDLEQAAHLI QALSNHEDVI HVYDNIE
