PGPS1_HUMAN
ID PGPS1_HUMAN Reviewed; 556 AA.
AC Q32NB8; B7ZA32; Q8IYK9; Q8TA85; Q96A75; Q9H7G9; Q9NPW7;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 06-DEC-2005, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial;
DE EC=2.7.8.5;
DE AltName: Full=Phosphatidylglycerophosphate synthase 1;
DE Short=PGP synthase 1;
DE Flags: Precursor;
GN Name=PGS1;
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 1 AND 4).
RC TISSUE=Adipose tissue, and Umbilical cord blood;
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 3-556 (ISOFORM 3).
RC TISSUE=Brain, Ovary, Pancreas, and 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 286-556 (ISOFORM 1).
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).
CC -!- FUNCTION: Functions in the biosynthesis of the anionic phospholipids
CC phosphatidylglycerol and cardiolipin. {ECO:0000250}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=a CDP-1,2-diacyl-sn-glycerol + sn-glycerol 3-phosphate = 1,2-
CC diacyl-sn-glycero-3-phospho-(1'-sn-glycero-3'-phosphate) + CMP +
CC H(+); Xref=Rhea:RHEA:12593, ChEBI:CHEBI:15378, ChEBI:CHEBI:57597,
CC ChEBI:CHEBI:58332, ChEBI:CHEBI:60110, ChEBI:CHEBI:60377; EC=2.7.8.5;
CC -!- ACTIVITY REGULATION: Activated by calcium and magnesium and inhibited
CC by other bivalent cations. {ECO:0000250}.
CC -!- PATHWAY: Phospholipid metabolism; phosphatidylglycerol biosynthesis;
CC phosphatidylglycerol from CDP-diacylglycerol: step 1/2.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q32NB8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q32NB8-2; Sequence=VSP_033899, VSP_033902, VSP_033903;
CC Name=3;
CC IsoId=Q32NB8-3; Sequence=VSP_033900, VSP_033901;
CC Name=4;
CC IsoId=Q32NB8-4; Sequence=VSP_033897, VSP_033898;
CC -!- SIMILARITY: Belongs to the CDP-alcohol phosphatidyltransferase class-II
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH08903.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAH15570.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAH35662.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH35662.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB14921.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
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DR EMBL; AK024529; BAB14921.1; ALT_SEQ; mRNA.
DR EMBL; AK316147; BAH14518.1; -; mRNA.
DR EMBL; CH471099; EAW89524.1; -; Genomic_DNA.
DR EMBL; BC008903; AAH08903.2; ALT_INIT; mRNA.
DR EMBL; BC015570; AAH15570.2; ALT_INIT; mRNA.
DR EMBL; BC025951; AAH25951.2; -; mRNA.
DR EMBL; BC035662; AAH35662.1; ALT_SEQ; mRNA.
DR EMBL; BC108732; AAI08733.1; -; mRNA.
DR EMBL; AL359590; CAB94876.1; -; mRNA.
DR EMBL; CR749720; CAH18487.1; -; mRNA.
DR CCDS; CCDS42391.1; -. [Q32NB8-1]
DR PIR; T50620; T50620.
DR RefSeq; NP_077733.3; NM_024419.4. [Q32NB8-1]
DR RefSeq; XP_016880850.1; XM_017025361.1. [Q32NB8-1]
DR RefSeq; XP_016880851.1; XM_017025362.1. [Q32NB8-1]
DR AlphaFoldDB; Q32NB8; -.
DR SMR; Q32NB8; -.
DR BioGRID; 114871; 8.
DR IntAct; Q32NB8; 3.
DR STRING; 9606.ENSP00000262764; -.
DR CarbonylDB; Q32NB8; -.
DR iPTMnet; Q32NB8; -.
DR PhosphoSitePlus; Q32NB8; -.
DR BioMuta; PGS1; -.
DR DMDM; 121942206; -.
DR EPD; Q32NB8; -.
DR jPOST; Q32NB8; -.
DR MassIVE; Q32NB8; -.
DR MaxQB; Q32NB8; -.
DR PaxDb; Q32NB8; -.
DR PeptideAtlas; Q32NB8; -.
DR PRIDE; Q32NB8; -.
DR ProteomicsDB; 61615; -. [Q32NB8-1]
DR ProteomicsDB; 61616; -. [Q32NB8-2]
DR ProteomicsDB; 61617; -. [Q32NB8-3]
DR ProteomicsDB; 61618; -. [Q32NB8-4]
DR TopDownProteomics; Q32NB8-1; -. [Q32NB8-1]
DR TopDownProteomics; Q32NB8-2; -. [Q32NB8-2]
DR TopDownProteomics; Q32NB8-3; -. [Q32NB8-3]
DR Antibodypedia; 9930; 167 antibodies from 23 providers.
DR DNASU; 9489; -.
DR Ensembl; ENST00000262764.11; ENSP00000262764.5; ENSG00000087157.19. [Q32NB8-1]
DR Ensembl; ENST00000589425.5; ENSP00000465278.1; ENSG00000087157.19. [Q32NB8-4]
DR Ensembl; ENST00000589426.5; ENSP00000468431.1; ENSG00000087157.19. [Q32NB8-2]
DR GeneID; 9489; -.
DR KEGG; hsa:9489; -.
DR MANE-Select; ENST00000262764.11; ENSP00000262764.5; NM_024419.5; NP_077733.3.
DR UCSC; uc002jvm.4; human. [Q32NB8-1]
DR CTD; 9489; -.
DR DisGeNET; 9489; -.
DR GeneCards; PGS1; -.
DR HGNC; HGNC:30029; PGS1.
DR HPA; ENSG00000087157; Low tissue specificity.
DR MIM; 614942; gene.
DR neXtProt; NX_Q32NB8; -.
DR OpenTargets; ENSG00000087157; -.
DR PharmGKB; PA142671180; -.
DR VEuPathDB; HostDB:ENSG00000087157; -.
DR eggNOG; KOG3964; Eukaryota.
DR GeneTree; ENSGT00390000002373; -.
DR HOGENOM; CLU_030471_1_2_1; -.
DR InParanoid; Q32NB8; -.
DR OMA; YLSTLYI; -.
DR OrthoDB; 1358866at2759; -.
DR PhylomeDB; Q32NB8; -.
DR TreeFam; TF314768; -.
DR BioCyc; MetaCyc:HS01560-MON; -.
DR BRENDA; 2.7.8.5; 2681.
DR PathwayCommons; Q32NB8; -.
DR Reactome; R-HSA-1483148; Synthesis of PG.
DR SignaLink; Q32NB8; -.
DR SIGNOR; Q32NB8; -.
DR UniPathway; UPA00084; UER00503.
DR BioGRID-ORCS; 9489; 498 hits in 1083 CRISPR screens.
DR ChiTaRS; PGS1; human.
DR GenomeRNAi; 9489; -.
DR Pharos; Q32NB8; Tbio.
DR PRO; PR:Q32NB8; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q32NB8; protein.
DR Bgee; ENSG00000087157; Expressed in blood and 167 other tissues.
DR ExpressionAtlas; Q32NB8; baseline and differential.
DR Genevisible; Q32NB8; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:BHF-UCL.
DR GO; GO:0005739; C:mitochondrion; ISS:BHF-UCL.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0005509; F:calcium ion binding; ISS:BHF-UCL.
DR GO; GO:0008444; F:CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity; ISS:BHF-UCL.
DR GO; GO:0032049; P:cardiolipin biosynthetic process; ISS:BHF-UCL.
DR GO; GO:0046339; P:diacylglycerol metabolic process; ISS:BHF-UCL.
DR GO; GO:0006655; P:phosphatidylglycerol biosynthetic process; ISS:BHF-UCL.
DR InterPro; IPR016270; PGS1.
DR InterPro; IPR001736; PLipase_D/transphosphatidylase.
DR PANTHER; PTHR12586; PTHR12586; 1.
DR PROSITE; PS50035; PLD; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ATP-binding; Lipid biosynthesis; Lipid metabolism;
KW Mitochondrion; Nucleotide-binding; Phospholipid biosynthesis;
KW Phospholipid metabolism; Phosphoprotein; Reference proteome; Repeat;
KW Transferase; Transit peptide.
FT TRANSIT 1..28
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 29..556
FT /note="CDP-diacylglycerol--glycerol-3-phosphate 3-
FT phosphatidyltransferase, mitochondrial"
FT /id="PRO_0000337105"
FT DOMAIN 215..241
FT /note="PLD phosphodiesterase 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00153"
FT DOMAIN 460..493
FT /note="PLD phosphodiesterase 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00153"
FT ACT_SITE 220
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00153"
FT ACT_SITE 222
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00153"
FT ACT_SITE 227
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00153"
FT BINDING 124..131
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT MOD_RES 49
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BHF7"
FT VAR_SEQ 48..50
FT /note="RSP -> RGR (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033897"
FT VAR_SEQ 51..556
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033898"
FT VAR_SEQ 112..137
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033899"
FT VAR_SEQ 328..330
FT /note="SNS -> RTL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033900"
FT VAR_SEQ 331..556
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033901"
FT VAR_SEQ 469..480
FT /note="LWLYLAGSSLPC -> QFTGTWRPRLRS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033902"
FT VAR_SEQ 481..556
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033903"
SQ SEQUENCE 556 AA; 62730 MW; C6263E6F7D9B2462 CRC64;
MAVAAAAAAG PVFWRRLLGL LPGRPGLAAL LGRLSDRLGR NRDRQRRRSP WLLLAPLLSP
AVPQVTSPPC CLCPEGVHRF QWIRNLVPEF GVSSSHVRVL SSPAEFFELM KGQIRVAKRR
VVMASLYLGT GPLEQELVDC LESTLEKSLQ AKFPSNLKVS ILLDFTRGSR GRKNSRTMLL
PLLRRFPEQV RVSLFHTPHL RGLLRLLIPE RFNETIGLQH IKVYLFDNSV ILSGANLSDS
YFTNRQDRYV FLQDCAEIAD FFTELVDAVG DVSLQLQGDD TVQVVDGMVH PYKGDRAEYC
KAANKRVMDV INSARTRQQM LHAQTFHSNS LLTQEDAAAA GDRRPAPDTW IYPLIQMKPF
EIQIDEIVTE TLLTEAERGA KVYLTTGYFN LTQAYMDLVL GTRAEYQILL ASPEVNGFFG
AKGVAGAIPA AYVHIERQFF SEVCSLGQQE RVQLQEYWRR GWTFHAKGLW LYLAGSSLPC
LTLIGSPNFG YRSVHRDLEA QIAIVTENQA LQQQLHQEQE QLYLRSGVVS SATFEQPSRQ
VKLWVKMVTP LIKNFF
