TTC19_MOUSE
ID TTC19_MOUSE Reviewed; 365 AA.
AC Q8CC21; Q5NCZ3; Q5NCZ4; Q8K1X2; Q8R0G6; Q9CYS5;
DT 27-SEP-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Tetratricopeptide repeat protein 19, mitochondrial;
DE Short=TPR repeat protein 19;
DE Flags: Precursor;
GN Name=Ttc19;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC STRAIN=C57BL/6J; TISSUE=Diencephalon;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 83-365 (ISOFORM 1).
RC STRAIN=FVB/N-3; TISSUE=Mammary tumor;
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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain, Brown adipose tissue, and Heart;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [6]
RP SUBUNIT, SUBCELLULAR LOCATION, AND INTERACTION WITH UQCRC1 AND UQCRFS1.
RX PubMed=21278747; DOI=10.1038/ng.761;
RA Ghezzi D., Arzuffi P., Zordan M., Da Re C., Lamperti C., Benna C.,
RA D'Adamo P., Diodato D., Costa R., Mariotti C., Uziel G., Smiderle C.,
RA Zeviani M.;
RT "Mutations in TTC19 cause mitochondrial complex III deficiency and
RT neurological impairment in humans and flies.";
RL Nat. Genet. 43:259-263(2011).
RN [7]
RP DISRUPTION PHENOTYPE, FUNCTION, SUBUNIT, AND INTERACTION WITH COMPLEX III.
RX PubMed=28673544; DOI=10.1016/j.molcel.2017.06.001;
RA Bottani E., Cerutti R., Harbour M.E., Ravaglia S., Dogan S.A., Giordano C.,
RA Fearnley I.M., D'Amati G., Viscomi C., Fernandez-Vizarra E., Zeviani M.;
RT "TTC19 plays a husbandry role on UQCRFS1 turnover in the biogenesis of
RT mitochondrial respiratory complex III.";
RL Mol. Cell 67:96-105(2017).
CC -!- FUNCTION: Required for the preservation of the structural and
CC functional integrity of mitochondrial respiratory complex III by
CC allowing the physiological turnover of the Rieske protein UQCRFS1
CC (PubMed:21278747, PubMed:28673544). Involved in the clearance of
CC UQCRFS1 N-terminal fragments, which are produced upon incorporation
CC into the complex III and whose presence is detrimental for its
CC catalytic activity (PubMed:28673544). {ECO:0000269|PubMed:21278747,
CC ECO:0000269|PubMed:28673544}.
CC -!- SUBUNIT: Binds to the mature mitochondrial complex III dimer, after the
CC incorporation of the Rieske protein UQCRFS1 (PubMed:28673544,
CC PubMed:21278747). Interacts with UQCRC1 and UQCRFS1 (PubMed:21278747).
CC Interacts with ZFYVE26 and CHMP4B (By similarity).
CC {ECO:0000250|UniProtKB:Q6DKK2, ECO:0000269|PubMed:21278747,
CC ECO:0000269|PubMed:28673544}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:21278747}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8CC21-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8CC21-2; Sequence=VSP_041051;
CC -!- DISRUPTION PHENOTYPE: Mutant mice show progressive neurological and
CC energy metabolic decline, decrease complex III activity, increased
CC production of reactive oxygen species, extensive astrogliosis and
CC accumulation of ubiquitinated proteins in neurons of the thalamus.
CC Compatible with a Mendelian autosomal recessive trait. No evidence of
CC embryonic lethality nor evidence of obvious neuronal loss.
CC {ECO:0000269|PubMed:28673544}.
CC -!- SIMILARITY: Belongs to the TTC19 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH37111.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB28813.2; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=EDL10340.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK013368; BAB28813.2; ALT_FRAME; mRNA.
DR EMBL; AK034075; BAC28572.1; -; mRNA.
DR EMBL; AL596110; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH466601; EDL10340.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC026866; AAH26866.1; -; mRNA.
DR EMBL; BC037111; AAH37111.1; ALT_INIT; mRNA.
DR CCDS; CCDS36177.1; -. [Q8CC21-1]
DR CCDS; CCDS48817.1; -. [Q8CC21-2]
DR RefSeq; NP_082636.3; NM_028360.2. [Q8CC21-1]
DR RefSeq; NP_083980.2; NM_029704.2. [Q8CC21-2]
DR AlphaFoldDB; Q8CC21; -.
DR SMR; Q8CC21; -.
DR BioGRID; 215571; 1.
DR STRING; 10090.ENSMUSP00000054367; -.
DR iPTMnet; Q8CC21; -.
DR PhosphoSitePlus; Q8CC21; -.
DR EPD; Q8CC21; -.
DR MaxQB; Q8CC21; -.
DR PaxDb; Q8CC21; -.
DR PeptideAtlas; Q8CC21; -.
DR PRIDE; Q8CC21; -.
DR ProteomicsDB; 298324; -. [Q8CC21-1]
DR ProteomicsDB; 298325; -. [Q8CC21-2]
DR Antibodypedia; 13179; 82 antibodies from 20 providers.
DR Ensembl; ENSMUST00000050646; ENSMUSP00000054367; ENSMUSG00000042298. [Q8CC21-1]
DR Ensembl; ENSMUST00000101075; ENSMUSP00000098636; ENSMUSG00000042298. [Q8CC21-2]
DR GeneID; 72795; -.
DR KEGG; mmu:72795; -.
DR UCSC; uc007jir.2; mouse. [Q8CC21-1]
DR UCSC; uc007jis.2; mouse. [Q8CC21-2]
DR CTD; 54902; -.
DR MGI; MGI:1920045; Ttc19.
DR VEuPathDB; HostDB:ENSMUSG00000042298; -.
DR eggNOG; KOG1840; Eukaryota.
DR GeneTree; ENSGT00390000009194; -.
DR InParanoid; Q8CC21; -.
DR OMA; MKQGKYL; -.
DR PhylomeDB; Q8CC21; -.
DR TreeFam; TF314010; -.
DR BioGRID-ORCS; 72795; 2 hits in 73 CRISPR screens.
DR ChiTaRS; Ttc19; mouse.
DR PRO; PR:Q8CC21; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q8CC21; protein.
DR Bgee; ENSMUSG00000042298; Expressed in superior frontal gyrus and 233 other tissues.
DR ExpressionAtlas; Q8CC21; baseline and differential.
DR Genevisible; Q8CC21; MM.
DR GO; GO:0005743; C:mitochondrial inner membrane; ISS:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; HDA:MGI.
DR GO; GO:0070469; C:respirasome; IEA:UniProtKB-KW.
DR GO; GO:0034551; P:mitochondrial respiratory chain complex III assembly; ISS:UniProtKB.
DR Gene3D; 1.25.40.10; -; 1.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR InterPro; IPR040395; TTC19.
DR PANTHER; PTHR13143; PTHR13143; 1.
DR SMART; SM00028; TPR; 4.
DR SUPFAM; SSF48452; SSF48452; 1.
DR PROSITE; PS50293; TPR_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Electron transport; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Repeat;
KW Respiratory chain; TPR repeat; Transit peptide; Transport.
FT TRANSIT 1..52
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 53..365
FT /note="Tetratricopeptide repeat protein 19, mitochondrial"
FT /id="PRO_0000106408"
FT REPEAT 127..160
FT /note="TPR 1"
FT REPEAT 220..260
FT /note="TPR 2"
FT REPEAT 269..302
FT /note="TPR 3"
FT REPEAT 308..341
FT /note="TPR 4"
FT VAR_SEQ 133..145
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_041051"
FT CONFLICT 43
FT /note="L -> V (in Ref. 1; BAB28813)"
FT /evidence="ECO:0000305"
FT CONFLICT 220
FT /note="A -> S (in Ref. 1; BAB28813)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 365 AA; 41234 MW; 2C1AD6DCD91C3B69 CRC64;
MFRLLRWRLG RTLLRAAGRR CGGCTARLLP ERTGDAGTGA ERLRTRGAPA RGHGVLPLLA
ALAWFSRPAA TAEQPGEDAS DEAEAEIIQL LKQAKLSIMK DEPEAAELIL HDALRLAYES
DNRKAITYTY DLMANLAFIR GQLENAEQLF KATMSYLLGG GMKQEDNAII EISLKLANIY
AAQNKQEFAL AGYEFCISTL EGKIEREKEL AEDIMSEETA NTYLLLGMCL DSCARYLLFS
KQLSQAQRMY EKALQICQEI QGERHPQTIV LMSDLATTLD AQGHFDDAYI YMQRASDLAR
EINHPELHMV LSNLAAILIH RERYTQAKEI YQEALKRAEL KRDEVSVQHI REELAELSRK
SRRLT
