PDPR_HUMAN
ID PDPR_HUMAN Reviewed; 879 AA.
AC Q8NCN5; A7E298; A8K8Y7; B3KSE1; Q6AI20; Q6AWC9;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial;
DE Short=PDPr;
DE Flags: Precursor;
GN Name=PDPR; Synonyms=KIAA1990;
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] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=12056414; DOI=10.1093/dnares/9.2.47;
RA Ohara O., Nagase T., Mitsui G., Kohga H., Kikuno R., Hiraoka S.,
RA Takahashi Y., Kitajima S., Saga Y., Koseki H.;
RT "Characterization of size-fractionated cDNA libraries generated by the in
RT vitro recombination-assisted method.";
RL DNA Res. 9:47-57(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Embryo, and Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Amygdala, and Cervix;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [6]
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 [7]
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: Decreases the sensitivity of PDP1 to magnesium ions, and this
CC inhibition is reversed by the polyamine spermine. {ECO:0000250}.
CC -!- SUBUNIT: Heterodimer of a catalytic (PDP1) and a regulatory (PDPR)
CC subunit. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NCN5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NCN5-2; Sequence=VSP_056077;
CC -!- SIMILARITY: Belongs to the GcvT family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-2 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC02699.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAF85191.1; Type=Erroneous initiation; 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; AB082521; BAC02699.1; ALT_INIT; mRNA.
DR EMBL; AK093391; BAG52703.1; -; mRNA.
DR EMBL; AK292502; BAF85191.1; ALT_INIT; mRNA.
DR EMBL; BX538153; CAH10555.1; -; mRNA.
DR EMBL; CR627404; CAH10494.1; -; mRNA.
DR EMBL; AC009022; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC009060; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC150251; AAI50252.1; -; mRNA.
DR CCDS; CCDS45520.1; -. [Q8NCN5-1]
DR RefSeq; NP_001309046.1; NM_001322117.1. [Q8NCN5-1]
DR RefSeq; NP_060460.4; NM_017990.4. [Q8NCN5-1]
DR RefSeq; XP_005256072.1; XM_005256015.2. [Q8NCN5-1]
DR RefSeq; XP_005256073.1; XM_005256016.3. [Q8NCN5-1]
DR RefSeq; XP_016878876.1; XM_017023387.1. [Q8NCN5-1]
DR AlphaFoldDB; Q8NCN5; -.
DR SMR; Q8NCN5; -.
DR BioGRID; 120384; 96.
DR ComplexPortal; CPX-6261; Mitochondrial pyruvate dehydrogenase serine/threonine phosphatase complex.
DR IntAct; Q8NCN5; 26.
DR MINT; Q8NCN5; -.
DR STRING; 9606.ENSP00000288050; -.
DR GlyGen; Q8NCN5; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NCN5; -.
DR PhosphoSitePlus; Q8NCN5; -.
DR BioMuta; PDPR; -.
DR DMDM; 182668644; -.
DR EPD; Q8NCN5; -.
DR jPOST; Q8NCN5; -.
DR MassIVE; Q8NCN5; -.
DR MaxQB; Q8NCN5; -.
DR PaxDb; Q8NCN5; -.
DR PeptideAtlas; Q8NCN5; -.
DR PRIDE; Q8NCN5; -.
DR ProteomicsDB; 3633; -.
DR ProteomicsDB; 72914; -. [Q8NCN5-1]
DR Antibodypedia; 66437; 66 antibodies from 16 providers.
DR DNASU; 55066; -.
DR Ensembl; ENST00000288050.9; ENSP00000288050.5; ENSG00000090857.14. [Q8NCN5-1]
DR Ensembl; ENST00000568530.5; ENSP00000457916.1; ENSG00000090857.14. [Q8NCN5-1]
DR GeneID; 55066; -.
DR KEGG; hsa:55066; -.
DR MANE-Select; ENST00000288050.9; ENSP00000288050.5; NM_017990.5; NP_060460.4.
DR UCSC; uc002eyf.2; human. [Q8NCN5-1]
DR CTD; 55066; -.
DR DisGeNET; 55066; -.
DR GeneCards; PDPR; -.
DR HGNC; HGNC:30264; PDPR.
DR HPA; ENSG00000090857; Low tissue specificity.
DR MIM; 617835; gene.
DR neXtProt; NX_Q8NCN5; -.
DR OpenTargets; ENSG00000090857; -.
DR VEuPathDB; HostDB:ENSG00000090857; -.
DR eggNOG; KOG2844; Eukaryota.
DR GeneTree; ENSGT00940000159082; -.
DR InParanoid; Q8NCN5; -.
DR OMA; HAGYYAT; -.
DR OrthoDB; 137947at2759; -.
DR PhylomeDB; Q8NCN5; -.
DR TreeFam; TF314735; -.
DR BRENDA; 3.1.3.43; 2681.
DR PathwayCommons; Q8NCN5; -.
DR Reactome; R-HSA-204174; Regulation of pyruvate dehydrogenase (PDH) complex.
DR SignaLink; Q8NCN5; -.
DR BioGRID-ORCS; 55066; 23 hits in 1079 CRISPR screens.
DR ChiTaRS; PDPR; human.
DR GenomeRNAi; 55066; -.
DR Pharos; Q8NCN5; Tbio.
DR PRO; PR:Q8NCN5; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q8NCN5; protein.
DR Bgee; ENSG00000090857; Expressed in secondary oocyte and 179 other tissues.
DR ExpressionAtlas; Q8NCN5; baseline and differential.
DR Genevisible; Q8NCN5; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005759; C:mitochondrial matrix; IBA:GO_Central.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0045253; C:pyruvate dehydrogenase (lipoamide) phosphatase complex; IC:ComplexPortal.
DR GO; GO:0016491; F:oxidoreductase activity; IBA:GO_Central.
DR GO; GO:1904184; P:positive regulation of pyruvate dehydrogenase activity; IC:ComplexPortal.
DR GO; GO:0006470; P:protein dephosphorylation; IC:ComplexPortal.
DR Gene3D; 3.30.1360.120; -; 1.
DR Gene3D; 3.50.50.60; -; 1.
DR InterPro; IPR006076; FAD-dep_OxRdtase.
DR InterPro; IPR036188; FAD/NAD-bd_sf.
DR InterPro; IPR032503; FAO_M.
DR InterPro; IPR013977; GCV_T_C.
DR InterPro; IPR006222; GCV_T_N.
DR InterPro; IPR029043; GcvT/YgfZ_C.
DR InterPro; IPR001763; Rhodanese-like_dom.
DR InterPro; IPR027266; TrmE/GcvT_dom1.
DR Pfam; PF01266; DAO; 1.
DR Pfam; PF16350; FAO_M; 1.
DR Pfam; PF01571; GCV_T; 1.
DR Pfam; PF08669; GCV_T_C; 1.
DR SUPFAM; SSF101790; SSF101790; 1.
DR SUPFAM; SSF51905; SSF51905; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Mitochondrion; Reference proteome; Transit peptide.
FT TRANSIT 1..27
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 28..879
FT /note="Pyruvate dehydrogenase phosphatase regulatory
FT subunit, mitochondrial"
FT /id="PRO_0000328740"
FT VAR_SEQ 1..655
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056077"
FT VARIANT 109
FT /note="Y -> H (in dbSNP:rs2549532)"
FT /id="VAR_042504"
FT CONFLICT 29
FT /note="T -> A (in Ref. 3; CAH10555)"
FT /evidence="ECO:0000305"
FT CONFLICT 47
FT /note="I -> V (in Ref. 3; CAH10555)"
FT /evidence="ECO:0000305"
FT CONFLICT 59..61
FT /note="YHL -> HHQ (in Ref. 3; CAH10555)"
FT /evidence="ECO:0000305"
FT CONFLICT 110
FT /note="Y -> H (in Ref. 2; BAF85191 and 3; CAH10555)"
FT /evidence="ECO:0000305"
FT CONFLICT 171
FT /note="V -> A (in Ref. 3; CAH10555)"
FT /evidence="ECO:0000305"
FT CONFLICT 206
FT /note="I -> V (in Ref. 3; CAH10555)"
FT /evidence="ECO:0000305"
FT CONFLICT 210
FT /note="T -> A (in Ref. 2; BAF85191)"
FT /evidence="ECO:0000305"
FT CONFLICT 284
FT /note="I -> T (in Ref. 3; CAH10494)"
FT /evidence="ECO:0000305"
FT CONFLICT 355
FT /note="V -> A (in Ref. 3; CAH10494)"
FT /evidence="ECO:0000305"
FT CONFLICT 363
FT /note="P -> S (in Ref. 3; CAH10555)"
FT /evidence="ECO:0000305"
FT CONFLICT 497
FT /note="Q -> R (in Ref. 3; CAH10494)"
FT /evidence="ECO:0000305"
FT CONFLICT 597
FT /note="H -> D (in Ref. 2; BAF85191)"
FT /evidence="ECO:0000305"
FT CONFLICT 662
FT /note="N -> K (in Ref. 3; CAH10555)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 879 AA; 99364 MW; D555CDE2A289753F CRC64;
MMFYRLLSIV GRQRASPGWQ NWSSARNSTS AAEARSMALP TQAQVVICGG GITGTSVAYH
LSKMGWKDIV LLEQGRLAAG STRFCAGILS TARHLTIEQK MADYSNKLYY QLEQETGIQT
GYTRTGSIFL AQTQDRLISL KRINAGLNVI GIPSEIISPK KVAELHHLLN VHDLVGAMHV
PEDAVVSSAD VALALASAAS QNGVQIYDRT SVLHVMVKKG QVTGVETDKG QIECQYFVNC
AGQWAYELGL SNEEPVSIPL HACEHFYLLT RPLETPLQSS TPTIVDADGR IYIRNWQGGI
LSGGFEKNPK PIFTEGKNQL EIQNLQEDWD HFEPLLSSLL RRMPELETLE IMKLVNCPET
FTPDMRCIMG ESPAVQGYFV LAGMNSAGLS FGGGAGKYLA EWMVHGYPSE NVWELDLKRF
GALQSSRTFL RHRVMEVMPL MYDLKVPRWD FQTGRQLRTS PLYDRLDAQG ARWMEKHGFE
RPKYFVPPDK DLLALEQSKT FYKPDWFDIV ESEVKCCKEA VCVIDMSSFT KFEITSTGDQ
ALEVLQYLFS NDLDVPVGHI VHTGMLNEGG GYENDCSIAR LNKRSFFMIS PTDQQVHCWA
WLKKHMPKDS NLLLEDVTWK YTALNLIGPR AVDVLSELSY APMTPDHFPS LFCKEMSVGY
ANGIRVMSMT HTGEPGFMLY IPIEYALHVY NEVMSVGQKY GIRNAGYYAL RSLRIEKFFA
FWGQDINNLT TPLECGRESR VKLEKGMDFI GRDALLQQKQ NGVYKRLTMF ILDDHDSDLD
LWPWWGEPIY RNGQYVGKTT SSAYSYSLER HVCLGFVHNF SEDTGEEQVV TADFINRGEY
EIDIAGYRFQ AKAKLYPVAS LFTQKRRKDD MELSDLHGK
