PTCD2_HUMAN
ID PTCD2_HUMAN Reviewed; 388 AA.
AC Q8WV60; B7Z5D0; B7Z8L7; E9PFV7; Q6IA65; Q9H9R0;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Pentatricopeptide repeat-containing protein 2, mitochondrial;
GN Name=PTCD2;
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] (ISOFORMS 2 AND 3), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 75-388 (ISOFORM 1).
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].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [3]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-388 (ISOFORM 1).
RC TISSUE=Uterus;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 153-388 (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP SUBCELLULAR LOCATION.
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 [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-382, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Involved in mitochondrial RNA maturation and mitochondrial
CC respiratory chain function. {ECO:0000250}.
CC -!- INTERACTION:
CC Q8WV60; O15344: MID1; NbExp=3; IntAct=EBI-12154567, EBI-2340316;
CC Q8WV60; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-12154567, EBI-10172526;
CC Q8WV60; Q13049: TRIM32; NbExp=3; IntAct=EBI-12154567, EBI-742790;
CC Q8WV60; Q70CQ1-2: USP49; NbExp=3; IntAct=EBI-12154567, EBI-12133829;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18729827}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8WV60-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WV60-2; Sequence=VSP_055257, VSP_055258;
CC Name=3;
CC IsoId=Q8WV60-3; Sequence=VSP_055680;
CC -!- SIMILARITY: Belongs to the PTCD2 family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-6 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH18720.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB14162.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=EAW95706.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK022660; BAB14162.1; ALT_INIT; mRNA.
DR EMBL; AK298750; BAH12866.1; -; mRNA.
DR EMBL; AK303639; BAH14003.1; -; mRNA.
DR EMBL; AC026406; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471084; EAW95706.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC018720; AAH18720.1; ALT_INIT; mRNA.
DR EMBL; CR457290; CAG33571.1; -; mRNA.
DR CCDS; CCDS4014.2; -. [Q8WV60-1]
DR CCDS; CCDS68891.1; -. [Q8WV60-3]
DR CCDS; CCDS68892.1; -. [Q8WV60-2]
DR RefSeq; NP_001271332.1; NM_001284403.1. [Q8WV60-3]
DR RefSeq; NP_001271333.1; NM_001284404.1. [Q8WV60-2]
DR RefSeq; NP_079030.3; NM_024754.4. [Q8WV60-1]
DR RefSeq; XP_005248660.1; XM_005248603.2.
DR AlphaFoldDB; Q8WV60; -.
DR SMR; Q8WV60; -.
DR BioGRID; 122905; 37.
DR IntAct; Q8WV60; 16.
DR STRING; 9606.ENSP00000370013; -.
DR iPTMnet; Q8WV60; -.
DR PhosphoSitePlus; Q8WV60; -.
DR BioMuta; PTCD2; -.
DR DMDM; 215274210; -.
DR EPD; Q8WV60; -.
DR jPOST; Q8WV60; -.
DR MassIVE; Q8WV60; -.
DR MaxQB; Q8WV60; -.
DR PaxDb; Q8WV60; -.
DR PeptideAtlas; Q8WV60; -.
DR PRIDE; Q8WV60; -.
DR ProteomicsDB; 20188; -.
DR ProteomicsDB; 6961; -.
DR ProteomicsDB; 74756; -. [Q8WV60-1]
DR Antibodypedia; 48592; 192 antibodies from 22 providers.
DR DNASU; 79810; -.
DR Ensembl; ENST00000308077.9; ENSP00000308948.5; ENSG00000049883.15. [Q8WV60-1]
DR Ensembl; ENST00000380639.10; ENSP00000370013.4; ENSG00000049883.15. [Q8WV60-1]
DR Ensembl; ENST00000503868.5; ENSP00000427349.1; ENSG00000049883.15. [Q8WV60-3]
DR Ensembl; ENST00000536805.5; ENSP00000444772.1; ENSG00000049883.15. [Q8WV60-2]
DR GeneID; 79810; -.
DR KEGG; hsa:79810; -.
DR MANE-Select; ENST00000380639.10; ENSP00000370013.4; NM_024754.5; NP_079030.3.
DR UCSC; uc003kcb.5; human. [Q8WV60-1]
DR CTD; 79810; -.
DR DisGeNET; 79810; -.
DR GeneCards; PTCD2; -.
DR HGNC; HGNC:25734; PTCD2.
DR HPA; ENSG00000049883; Low tissue specificity.
DR MIM; 615484; gene.
DR neXtProt; NX_Q8WV60; -.
DR OpenTargets; ENSG00000049883; -.
DR PharmGKB; PA134909110; -.
DR VEuPathDB; HostDB:ENSG00000049883; -.
DR eggNOG; ENOG502R1K6; Eukaryota.
DR GeneTree; ENSGT00390000009329; -.
DR HOGENOM; CLU_060975_0_0_1; -.
DR InParanoid; Q8WV60; -.
DR OMA; IYRYHEQ; -.
DR PhylomeDB; Q8WV60; -.
DR TreeFam; TF324851; -.
DR PathwayCommons; Q8WV60; -.
DR SignaLink; Q8WV60; -.
DR BioGRID-ORCS; 79810; 17 hits in 1083 CRISPR screens.
DR ChiTaRS; PTCD2; human.
DR GenomeRNAi; 79810; -.
DR Pharos; Q8WV60; Tdark.
DR PRO; PR:Q8WV60; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q8WV60; protein.
DR Bgee; ENSG00000049883; Expressed in biceps brachii and 159 other tissues.
DR ExpressionAtlas; Q8WV60; baseline and differential.
DR Genevisible; Q8WV60; HS.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0001822; P:kidney development; IEA:Ensembl.
DR GO; GO:0001889; P:liver development; IEA:Ensembl.
DR GO; GO:0007005; P:mitochondrion organization; IBA:GO_Central.
DR GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW.
DR GO; GO:0055001; P:muscle cell development; IEA:Ensembl.
DR GO; GO:0010468; P:regulation of gene expression; IEA:Ensembl.
DR GO; GO:0050684; P:regulation of mRNA processing; ISS:UniProtKB.
DR GO; GO:0055010; P:ventricular cardiac muscle tissue morphogenesis; IEA:Ensembl.
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 Alternative splicing; Mitochondrion; mRNA processing; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..388
FT /note="Pentatricopeptide repeat-containing protein 2,
FT mitochondrial"
FT /id="PRO_0000344050"
FT REPEAT 166..200
FT /note="PPR"
FT MOD_RES 382
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..11
FT /note="MVRDSMAAAFR -> MWNWLKMSFTG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055257"
FT VAR_SEQ 12..183
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055258"
FT VAR_SEQ 73..183
FT /note="KETYFRNLKKKLTQNKLILKGELITLLHLCESRDHVELAKNVIYRYHAENKN
FT FTLGEYKFGPLFVRLCYELDLEESAVELMKDQHLRGFFSDSTSFNILMDMLFIKGKYKS
FT -> KG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055680"
FT CONFLICT 34
FT /note="S -> P (in Ref. 1; BAH12866)"
FT /evidence="ECO:0000305"
FT CONFLICT 194
FT /note="Q -> L (in Ref. 1; BAB14162)"
FT /evidence="ECO:0000305"
FT CONFLICT 388
FT /note="E -> D (in Ref. 5; CAG33571)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 388 AA; 43968 MW; 344BD840EBB80597 CRC64;
MVRDSMAAAF RPSNRVLLQA LQILVYPGVG GSGSVSCRCP LGAKRYLLTD NVVKLKEFQQ
KKVAVACNLS GTKETYFRNL KKKLTQNKLI LKGELITLLH LCESRDHVEL AKNVIYRYHA
ENKNFTLGEY KFGPLFVRLC YELDLEESAV ELMKDQHLRG FFSDSTSFNI LMDMLFIKGK
YKSALQVLIE MKNQDVKFTK DTYVLAFAIC YKLNSPESFK ICTTLREEAL LKGEILSRRA
SCFAVALALN QNEMAKAVSI FSQIMNPESI ACINLNIIIH IQSNMLENLI KTLKNAAEGN
LSKFVKRHVF SEEVLAKVRE KVKDVPALVA KFDEIYGTLH ITGQVTTDSL DAVLCHTPRD
RKSHTLLLNK RMVSRRTFQP LSQSLLAE
