Q32NB8 (PGPS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial
EC=2.7.8.5

Alternative name(s):
Phosphatidylglycerophosphate synthase 1
Short name=PGP synthase 1

Gene names

Name:

PGS1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	556 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin By similarity.
Catalytic activity	CDP-diacylglycerol + sn-glycerol 3-phosphate = CMP + 3(3-sn-phosphatidyl)-sn-glycerol 1-phosphate.
Enzyme regulation	Activated by calcium and magnesium and inhibited by other bivalent cations By similarity.
Pathway	Phospholipid metabolism; phosphatidylglycerol biosynthesis; phosphatidylglycerol from CDP-diacylglycerol: step 1/2.
Subcellular location	Mitochondrion By similarity.
Sequence similarities	Belongs to the CDP-alcohol phosphatidyltransferase class-II family. Contains 2 PLD phosphodiesterase domains.
Sequence caution	The sequence AAH08903.2 differs from that shown. Reason: Erroneous initiation. The sequence AAH15570.2 differs from that shown. Reason: Erroneous initiation. The sequence AAH35662.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence AAH35662.1 differs from that shown. Reason: Frameshift at position 420. The sequence BAB14921.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Ontologies

Keywords
Biological process	Lipid biosynthesis Lipid metabolism Phospholipid biosynthesis Phospholipid metabolism
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing
Domain	Repeat Transit peptide
Ligand	ATP-binding Nucleotide-binding
Molecular function	Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cardiolipin biosynthetic process Inferred from sequence or structural similarity. Source: BHF-UCL diacylglycerol metabolic process Inferred from sequence or structural similarity. Source: BHF-UCL small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	endoplasmic reticulum Inferred from direct assay. Source: LIFEdb mitochondrial inner membrane Traceable author statement PubMed 11171073. Source: BHF-UCL
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity Inferred from sequence or structural similarity. Source: BHF-UCL calcium ion binding Inferred from sequence or structural similarity. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q32NB8-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q32NB8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     112-137: Missing.
     469-480: LWLYLAGSSLPC → QFTGTWRPRLRS
     481-556: Missing.

Isoform 3 (identifier: Q32NB8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     328-330: SNS → RTL
     331-556: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: Q32NB8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     48-50: RSP → RGR
     51-556: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 28	28	Mitochondrion Potential
	Chain	29 – 556	528	CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial		PRO_0000337105
Regions
	Domain	215 – 241	27	PLD phosphodiesterase 1
	Domain	460 – 493	34	PLD phosphodiesterase 2
	Nucleotide binding	124 – 131	8	ATP Potential
Sites
	Active site	220	1	Potential
	Active site	222	1	Potential
	Active site	227	1	Potential
Natural variations
	Alternative sequence	48 – 50	3	RSP → RGR in isoform 4.		VSP_033897
	Alternative sequence	51 – 556	506	Missing in isoform 4.		VSP_033898
	Alternative sequence	112 – 137	26	Missing in isoform 2.		VSP_033899
	Alternative sequence	328 – 330	3	SNS → RTL in isoform 3.		VSP_033900
	Alternative sequence	331 – 556	226	Missing in isoform 3.		VSP_033901
	Alternative sequence	469 – 480	12	LWLYL…SSLPC → QFTGTWRPRLRS in isoform 2.		VSP_033902
	Alternative sequence	481 – 556	76	Missing in isoform 2.		VSP_033903

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 6, 2005. Version 1. Checksum: C6263E6F7D9B2462	FASTA	556	62,730
	10 20 30 40 50 60 MAVAAAAAAG PVFWRRLLGL LPGRPGLAAL LGRLSDRLGR NRDRQRRRSP WLLLAPLLSP 70 80 90 100 110 120 AVPQVTSPPC CLCPEGVHRF QWIRNLVPEF GVSSSHVRVL SSPAEFFELM KGQIRVAKRR 130 140 150 160 170 180 VVMASLYLGT GPLEQELVDC LESTLEKSLQ AKFPSNLKVS ILLDFTRGSR GRKNSRTMLL 190 200 210 220 230 240 PLLRRFPEQV RVSLFHTPHL RGLLRLLIPE RFNETIGLQH IKVYLFDNSV ILSGANLSDS 250 260 270 280 290 300 YFTNRQDRYV FLQDCAEIAD FFTELVDAVG DVSLQLQGDD TVQVVDGMVH PYKGDRAEYC 310 320 330 340 350 360 KAANKRVMDV INSARTRQQM LHAQTFHSNS LLTQEDAAAA GDRRPAPDTW IYPLIQMKPF 370 380 390 400 410 420 EIQIDEIVTE TLLTEAERGA KVYLTTGYFN LTQAYMDLVL GTRAEYQILL ASPEVNGFFG 430 440 450 460 470 480 AKGVAGAIPA AYVHIERQFF SEVCSLGQQE RVQLQEYWRR GWTFHAKGLW LYLAGSSLPC 490 500 510 520 530 540 LTLIGSPNFG YRSVHRDLEA QIAIVTENQA LQQQLHQEQE QLYLRSGVVS SATFEQPSRQ 550 VKLWVKMVTP LIKNFF
	Isoform 2 [UniParc]. Checksum: 383490EF68CB6A63	FASTA	454	51,306
	10 20 30 40 50 60 MAVAAAAAAG PVFWRRLLGL LPGRPGLAAL LGRLSDRLGR NRDRQRRRSP WLLLAPLLSP 70 80 90 100 110 120 AVPQVTSPPC CLCPEGVHRF QWIRNLVPEF GVSSSHVRVL SSPAEFFELM KVDCLESTLE 130 140 150 160 170 180 KSLQAKFPSN LKVSILLDFT RGSRGRKNSR TMLLPLLRRF PEQVRVSLFH TPHLRGLLRL 190 200 210 220 230 240 LIPERFNETI GLQHIKVYLF DNSVILSGAN LSDSYFTNRQ DRYVFLQDCA EIADFFTELV 250 260 270 280 290 300 DAVGDVSLQL QGDDTVQVVD GMVHPYKGDR AEYCKAANKR VMDVINSART RQQMLHAQTF 310 320 330 340 350 360 HSNSLLTQED AAAAGDRRPA PDTWIYPLIQ MKPFEIQIDE IVTETLLTEA ERGAKVYLTT 370 380 390 400 410 420 GYFNLTQAYM DLVLGTRAEY QILLASPEVN GFFGAKGVAG AIPAAYVHIE RQFFSEVCSL 430 440 450 GQQERVQLQE YWRRGWTFHA KGQFTGTWRP RLRS
	Isoform 3 [UniParc]. Checksum: E4E48DD7BB208BEE	FASTA	330	37,212
	10 20 30 40 50 60 MAVAAAAAAG PVFWRRLLGL LPGRPGLAAL LGRLSDRLGR NRDRQRRRSP WLLLAPLLSP 70 80 90 100 110 120 AVPQVTSPPC CLCPEGVHRF QWIRNLVPEF GVSSSHVRVL SSPAEFFELM KGQIRVAKRR 130 140 150 160 170 180 VVMASLYLGT GPLEQELVDC LESTLEKSLQ AKFPSNLKVS ILLDFTRGSR GRKNSRTMLL 190 200 210 220 230 240 PLLRRFPEQV RVSLFHTPHL RGLLRLLIPE RFNETIGLQH IKVYLFDNSV ILSGANLSDS 250 260 270 280 290 300 YFTNRQDRYV FLQDCAEIAD FFTELVDAVG DVSLQLQGDD TVQVVDGMVH PYKGDRAEYC 310 320 330 KAANKRVMDV INSARTRQQM LHAQTFHRTL
	Isoform 4 [UniParc]. Checksum: 937C583532218D16	FASTA	50	5,463
	10 20 30 40 50 MAVAAAAAAG PVFWRRLLGL LPGRPGLAAL LGRLSDRLGR NRDRQRRRGR

References

[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4). Tissue: Adipose tissue and Umbilical cord blood.
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-556 (ISOFORM 3). Tissue: Brain, Ovary, Pancreas and Uterus.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 286-556 (ISOFORM 1). Tissue: Melanoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK024529 mRNA. Translation: BAB14921.1. Sequence problems. AK316147 mRNA. Translation: BAH14518.1. CH471099 Genomic DNA. Translation: EAW89524.1. BC008903 mRNA. Translation: AAH08903.2. Different initiation. BC015570 mRNA. Translation: AAH15570.2. Different initiation. BC025951 mRNA. Translation: AAH25951.2. BC035662 mRNA. Translation: AAH35662.1. Sequence problems. BC108732 mRNA. Translation: AAI08733.1. AL359590 mRNA. Translation: CAB94876.1. CR749720 mRNA. Translation: CAH18487.1.
IPI	IPI00217795. IPI00382740. IPI00894152. IPI00894400.
PIR	T50620.
RefSeq	NP_077733.3. NM_024419.3.
UniGene	Hs.654671.
3D structure databases
ProteinModelPortal	Q32NB8.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q32NB8. 2 interactions.
MINT	MINT-1400418.
STRING	9606.ENSP00000262764.
PTM databases
PhosphoSite	Q32NB8.
Polymorphism databases
DMDM	121942206.
Proteomic databases
PaxDb	Q32NB8.
PRIDE	Q32NB8.
Protocols and materials databases
DNASU	9489.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262764; ENSP00000262764; ENSG00000087157. ENST00000589425; ENSP00000465278; ENSG00000087157. ENST00000589426; ENSP00000468431; ENSG00000087157.
GeneID	9489.
KEGG	hsa:9489.
UCSC	uc002jvm.3. human.
Organism-specific databases
CTD	9489.
GeneCards	GC17P076374.
HGNC	HGNC:30029. PGS1.
HPA	HPA022526.
MIM	614942. gene.
neXtProt	NX_Q32NB8.
PharmGKB	PA142671180.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1502.
HOVERGEN	HBG057228.
InParanoid	Q32NB8.
KO	K00995.
OMA	FELMKGQ.
OrthoDB	EOG4HDSTM.
Enzyme and pathway databases
BioCyc	MetaCyc:HS01560-MONOMER.
Reactome	REACT_111217. Metabolism.
UniPathway	UPA00084; UER00503.
Gene expression databases
ArrayExpress	Q32NB8.
Bgee	Q32NB8.
CleanEx	HS_PGS1.
Genevestigator	Q32NB8.
Family and domain databases
InterPro	IPR025202. PLD-like_dom. IPR016270. PLipase-D_PtdSer-synthase-type. IPR001736. PLipase_D/transphosphatidylase. [Graphical view]
PANTHER	PTHR12586. PTHR12586. 1 hit.
Pfam	PF13091. PLDc_2. 1 hit. [Graphical view]
PIRSF	PIRSF000850. Phospholipase_D_PSS. 1 hit.
PROSITE	PS50035. PLD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PGS1. human.
GenomeRNAi	9489.
NextBio	35556.
SOURCE	Search...

Entry information

Entry name

PGPS1_HUMAN

Accession

Primary (citable) accession number: Q32NB8
Secondary accession number(s): B7ZA32 , Q8IYK9, Q8TA85, Q96A75, Q9H7G9, Q9NPW7

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	December 6, 2005
Last modified:	May 1, 2013
This is version 68 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.