ID   PTCD2_MOUSE             Reviewed;         381 AA.
AC   Q8R3K3; Q91VG3; Q9D0S7;
DT   22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2002, sequence version 1.
DT   03-AUG-2022, entry version 110.
DE   RecName: Full=Pentatricopeptide repeat-containing protein 2, mitochondrial;
GN   Name=Ptcd2;
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].
RC   STRAIN=C57BL/6J;
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 MRNA].
RC   STRAIN=Czech II, and NMRI; 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   [3]
RP   SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE, FUNCTION, AND TISSUE
RP   SPECIFICITY.
RX   PubMed=18729827; DOI=10.1042/bj20080847;
RA   Xu F., Ackerley C., Maj M.C., Addis J.B., Levandovskiy V., Lee J.,
RA   Mackay N., Cameron J.M., Robinson B.H.;
RT   "Disruption of a mitochondrial RNA-binding protein gene results in
RT   decreased cytochrome b expression and a marked reduction in ubiquinol-
RT   cytochrome c reductase activity in mouse heart mitochondria.";
RL   Biochem. J. 416:15-26(2008).
RN   [4]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Heart, and Kidney;
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).
CC   -!- FUNCTION: Involved in mitochondrial RNA maturation and mitochondrial
CC       respiratory chain function. {ECO:0000269|PubMed:18729827}.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18729827}.
CC   -!- TISSUE SPECIFICITY: High expression in heart and liver and low
CC       expression in kidney, brain and testis. {ECO:0000269|PubMed:18729827}.
CC   -!- DISRUPTION PHENOTYPE: Deficient mice shown deficiency of the third
CC       complex of the respiratory chain that caused profound ultrastructural
CC       changes in the heart. The outer layers of ventricular cardiomyocytes
CC       appeared to be infiltrated with macrovesicular fat deposits, having the
CC       appearance of adipocytes. {ECO:0000269|PubMed:18729827}.
CC   -!- SIMILARITY: Belongs to the PTCD2 family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH16563.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential vector sequence.; Evidence={ECO:0000305};
CC       Sequence=BAB23336.1; Type=Frameshift; Evidence={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; AK004502; BAB23336.1; ALT_FRAME; mRNA.
DR   EMBL; BC016563; AAH16563.1; ALT_SEQ; mRNA.
DR   EMBL; BC025110; AAH25110.1; -; mRNA.
DR   CCDS; CCDS26721.1; -.
DR   RefSeq; NP_081149.1; NM_026873.2.
DR   AlphaFoldDB; Q8R3K3; -.
DR   BioGRID; 213122; 2.
DR   STRING; 10090.ENSMUSP00000022153; -.
DR   iPTMnet; Q8R3K3; -.
DR   PhosphoSitePlus; Q8R3K3; -.
DR   EPD; Q8R3K3; -.
DR   MaxQB; Q8R3K3; -.
DR   PaxDb; Q8R3K3; -.
DR   PeptideAtlas; Q8R3K3; -.
DR   PRIDE; Q8R3K3; -.
DR   ProteomicsDB; 302004; -.
DR   Antibodypedia; 48592; 192 antibodies from 22 providers.
DR   Ensembl; ENSMUST00000022153; ENSMUSP00000022153; ENSMUSG00000021650.
DR   GeneID; 68927; -.
DR   KEGG; mmu:68927; -.
DR   UCSC; uc007rpm.1; mouse.
DR   CTD; 79810; -.
DR   MGI; MGI:1916177; Ptcd2.
DR   VEuPathDB; HostDB:ENSMUSG00000021650; -.
DR   eggNOG; ENOG502R1K6; Eukaryota.
DR   GeneTree; ENSGT00390000009329; -.
DR   HOGENOM; CLU_060975_0_0_1; -.
DR   InParanoid; Q8R3K3; -.
DR   OMA; IYRYHEQ; -.
DR   OrthoDB; 497711at2759; -.
DR   PhylomeDB; Q8R3K3; -.
DR   TreeFam; TF324851; -.
DR   BioGRID-ORCS; 68927; 6 hits in 72 CRISPR screens.
DR   PRO; PR:Q8R3K3; -.
DR   Proteomes; UP000000589; Chromosome 13.
DR   RNAct; Q8R3K3; protein.
DR   Bgee; ENSMUSG00000021650; Expressed in otic placode and 260 other tissues.
DR   Genevisible; Q8R3K3; MM.
DR   GO; GO:0005739; C:mitochondrion; HDA:MGI.
DR   GO; GO:0007507; P:heart development; IMP:MGI.
DR   GO; GO:0001822; P:kidney development; IMP:MGI.
DR   GO; GO:0001889; P:liver development; IMP:MGI.
DR   GO; GO:0007005; P:mitochondrion organization; IMP:MGI.
DR   GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW.
DR   GO; GO:0055001; P:muscle cell development; IMP:MGI.
DR   GO; GO:0010468; P:regulation of gene expression; IMP:MGI.
DR   GO; GO:0050684; P:regulation of mRNA processing; IMP:MGI.
DR   GO; GO:0055010; P:ventricular cardiac muscle tissue morphogenesis; IMP:MGI.
DR   Gene3D; 1.25.40.10; -; 1.
DR   InterPro; IPR034913; MRPS27/PTCD2.
DR   InterPro; IPR002885; Pentatricopeptide_repeat.
DR   InterPro; IPR034629; PTCD2.
DR   InterPro; IPR011990; TPR-like_helical_dom_sf.
DR   PANTHER; PTHR14700; PTHR14700; 1.
DR   Pfam; PF10037; MRP-S27; 1.
DR   TIGRFAMs; TIGR00756; PPR; 1.
DR   PROSITE; PS51375; PPR; 1.
PE   1: Evidence at protein level;
KW   Mitochondrion; mRNA processing; Phosphoprotein; Reference proteome.
FT   CHAIN           1..381
FT                   /note="Pentatricopeptide repeat-containing protein 2,
FT                   mitochondrial"
FT                   /id="PRO_0000344051"
FT   REPEAT          159..193
FT                   /note="PPR"
FT   MOD_RES         375
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q8WV60"
SQ   SEQUENCE   381 AA;  43844 MW;  BD46E5EF54D5C5ED CRC64;
     MATVFRPLER LRVPRPSLHP GVTGSGSACC RCTLGAKRYL LTDNIVKLKE FQHKKIAIAY
     NLPGTKEIYF RNLEEKLTQN KLILKEELKT LLYLCQSLED VQLAKAVIYR YHAENKNFTL
     GEYKFGPVFM RLCYELDLED SAVELVRDKH LQGFFLDSTS FNILMDMLFT KGKYERALQV
     LIEMKNQDVR FSKETYILAF AICYKLNTLE SLKICTTLRE EALIKGDIIC RRAYCFVVAL
     ALNKNQLKNA VSIFSQIVNP ESIVCINLNI LIHIQSNMLE SLLKILEDSL DTNLSKFVRR
     HTFSEEVLAK VREKLKDSPA LIARFDEVYG KLHVNGQITV HSLDALLCHV PRDKRSNLLL
     LKKRAVSHRT LQPLSRSLLT E