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Aliases for PGS1 Gene

Aliases for PGS1 Gene

  • Phosphatidylglycerophosphate Synthase 1 2 3 4 5
  • EC 2.7.8.5 4 61
  • PGP Synthase 1 4

External Ids for PGS1 Gene

Previous GeneCards Identifiers for PGS1 Gene

  • GC17P076214
  • GC17P079761
  • GC17P076835
  • GC17P076971
  • GC17P073886
  • GC17P076374
  • GC17P071797

Summaries for PGS1 Gene

GeneCards Summary for PGS1 Gene

PGS1 (Phosphatidylglycerophosphate Synthase 1) is a Protein Coding gene. Among its related pathways are cardiolipin biosynthesis and Glycerophospholipid biosynthesis. GO annotations related to this gene include calcium ion binding and CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity.

UniProtKB/Swiss-Prot for PGS1 Gene

  • Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGS1 Gene

Genomics for PGS1 Gene

Regulatory Elements for PGS1 Gene

Enhancers for PGS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G078410 2 FANTOM5 Ensembl ENCODE dbSUPER 53.3 +36.1 36111 8.2 PKNOX1 ATF1 ARID4B SIN3A FEZF1 ZNF48 TCF12 ZNF121 GATA2 ZNF143 PGS1 SOCS3 DNAH17 TNRC6C-AS1 AFMID TK1 RNU6-638P LOC101928674 CYTH1 USP36
GH17G078387 1.8 FANTOM5 ENCODE dbSUPER 36.6 +11.7 11701 5.5 CREB3L1 MLX AGO1 ZFP64 DMAP1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PGS1 SOCS3 DNAH17 LOC101928674 CYTH1 TMC6 USP36 GC17P078400 GC17M078384
GH17G078368 2.1 FANTOM5 Ensembl ENCODE dbSUPER 25.5 -0.7 -736 18.9 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SOCS3 PGS1 LOC101928674 DNAH17 CYTH1 USP36 RN7SL236P
GH17G078441 1.8 FANTOM5 Ensembl ENCODE dbSUPER 25.5 +64.2 64231 2.4 HDGF ATF1 BRCA1 RARA ZNF121 FOS CREM CEBPB PRDM6 ZSCAN16 PGS1 DNAH17 SOCS3 RNU6-638P C1QTNF1-AS1 CYTH1 USP36 TMC6 GC17M078388 DNAH17-AS1
GH17G078197 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.9 -179.8 -179766 3.4 PKNOX1 ARNT FEZF1 YY1 TCF12 GATA2 ZNF548 PAF1 ZHX2 NCOA1 PGS1 TMEM235 SYNGR2 C17orf99 TNRC6C-AS1 ENSG00000200063 RNU6-625P SOCS3 TMC6 TMC8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PGS1 on UCSC Golden Path with GeneCards custom track

Promoters for PGS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098891 282 1401 HNRNPUL1 FOXA2 MLX CREB3L1 SIN3A ARID4B DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for PGS1 Gene

Chromosome:
17
Start:
78,378,618 bp from pter
End:
78,425,114 bp from pter
Size:
46,497 bases
Orientation:
Plus strand

Genomic View for PGS1 Gene

Genes around PGS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGS1 Gene

Proteins for PGS1 Gene

  • Protein details for PGS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q32NB8-PGPS1_HUMAN
    Recommended name:
    CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial
    Protein Accession:
    Q32NB8
    Secondary Accessions:
    • B7ZA32
    • Q8IYK9
    • Q8TA85
    • Q96A75
    • Q9H7G9
    • Q9NPW7

    Protein attributes for PGS1 Gene

    Size:
    556 amino acids
    Molecular mass:
    62730 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH08903.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH15570.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH35662.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH35662.1; Type=Frameshift; Positions=420; Evidence={ECO:0000305}; Sequence=BAB14921.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for PGS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PGS1 Gene

Selected DME Specific Peptides for PGS1 Gene

Q32NB8:
  • PGLAALLGRLSDRL
  • LLIPERFNETIGLQHIKVYLFD
  • VTETLLTEAER
  • VTSPPCCLC
  • PDTWIYPLIQMKPF
  • LEKSLQAKFPS
  • TLIGSPNFG
  • ILLASPEVNGFFGAKGVAGAIP
  • EIADFFTELVDA
  • TRGSRGRKNSRTML
  • WLLLAPLL
  • HRFQWIRNLVPEFG

Post-translational modifications for PGS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PGS1 Gene

Protein Domains for PGS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q32NB8

UniProtKB/Swiss-Prot:

PGPS1_HUMAN :
  • Belongs to the CDP-alcohol phosphatidyltransferase class-II family.
Family:
  • Belongs to the CDP-alcohol phosphatidyltransferase class-II family.
genes like me logo Genes that share domains with PGS1: view

No data available for Gene Families for PGS1 Gene

Function for PGS1 Gene

Molecular function for PGS1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CDP-diacylglycerol + sn-glycerol 3-phosphate = CMP + 3(3-sn-phosphatidyl)-sn-glycerol 1-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by calcium and magnesium and inhibited by other bivalent cations.
UniProtKB/Swiss-Prot Function:
Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin.

Enzyme Numbers (IUBMB) for PGS1 Gene

Gene Ontology (GO) - Molecular Function for PGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005509 calcium ion binding ISS --
GO:0005524 ATP binding IEA --
GO:0008444 CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity ISS --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PGS1: view
genes like me logo Genes that share phenotypes with PGS1: view

Animal Models for PGS1 Gene

MGI Knock Outs for PGS1:
  • Pgs1 tm1b(EUCOMM)Hmgu

Animal Model Products

  • Taconic Biosciences Mouse Models for PGS1

CRISPR Products

miRNA for PGS1 Gene

miRTarBase miRNAs that target PGS1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PGS1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PGS1 Gene

Localization for PGS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PGS1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PGS1 gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 4
plasma membrane 2
cytoskeleton 2
extracellular 1
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,ISS --
GO:0005743 mitochondrial inner membrane TAS 11171073
GO:0005783 endoplasmic reticulum IDA --
genes like me logo Genes that share ontologies with PGS1: view

Pathways & Interactions for PGS1 Gene

genes like me logo Genes that share pathways with PGS1: view

UniProtKB/Swiss-Prot Q32NB8-PGPS1_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylglycerol biosynthesis; phosphatidylglycerol from CDP-diacylglycerol: step 1/2.

Gene Ontology (GO) - Biological Process for PGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006655 phosphatidylglycerol biosynthetic process ISS,IEA --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0032049 cardiolipin biosynthetic process ISS --
GO:0046339 diacylglycerol metabolic process ISS --
genes like me logo Genes that share ontologies with PGS1: view

No data available for SIGNOR curated interactions for PGS1 Gene

Drugs & Compounds for PGS1 Gene

(3) Drugs for PGS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine monophosphate Experimental Pharma 0
calcium Nutra 0
Magnesium Nutra 0

(40) Additional Compounds for PGS1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CDP-DG(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-CDP
  • 1,2-Dipalmitoyl-rac-glycero-3-cytidine-5'-diphosphate
  • CDP-DG(16:0/16:0)
  • CDP-DG(32:0)
  • CDP-Diacylglycerol(16:0/16:0)
CDP-DG(16:0/18:0)
  • 1-Hexadecanoyl-2-octadecanoyl-sn-glycero-3-CDP
  • 1-Palmitoyl-2-stearoyl-sn-glycero-3-cytidine-5'-diphosphate
  • CDP-DG(16:0/18:0)
  • CDP-DG(34:0)
  • CDP-Diacylglycerol(16:0/18:0)
CDP-DG(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-glycero-3-CDP
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-cytidine-5'-diphosphate
  • CDP-DG(16:0/18:1)
  • CDP-DG(16:0/18:1n7)
  • CDP-DG(16:0/18:1w7)
CDP-DG(16:0/18:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-CDP
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-cytidine-5'-diphosphate
  • CDP-DG(16:0/18:1)
  • CDP-DG(16:0/18:1n9)
  • CDP-DG(16:0/18:1w9)
CDP-DG(16:0/18:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-CDP
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-cytidine-5'-diphosphate
  • CDP-DG(16:0/18:2)
  • CDP-DG(16:0/18:2n6)
  • CDP-DG(16:0/18:2w6)
genes like me logo Genes that share compounds with PGS1: view

Transcripts for PGS1 Gene

Unigene Clusters for PGS1 Gene

Phosphatidylglycerophosphate synthase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PGS1

Alternative Splicing Database (ASD) splice patterns (SP) for PGS1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c
SP1:
SP2: -
SP3: - - - - - - - - -
SP4: - - -
SP5: -
SP6:

Relevant External Links for PGS1 Gene

GeneLoc Exon Structure for
PGS1
ECgene alternative splicing isoforms for
PGS1

Expression for PGS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PGS1 Gene

mRNA differential expression in normal tissues according to GTEx for PGS1 Gene

This gene is overexpressed in Whole Blood (x9.3).

Protein differential expression in normal tissues from HIPED for PGS1 Gene

This gene is overexpressed in Plasma (62.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PGS1 Gene



Protein tissue co-expression partners for PGS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PGS1 Gene:

PGS1

SOURCE GeneReport for Unigene cluster for PGS1 Gene:

Hs.654671

Evidence on tissue expression from TISSUES for PGS1 Gene

  • Nervous system(4.6)
  • Pancreas(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with PGS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PGS1 Gene

Orthologs for PGS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PGS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PGS1 34 35
  • 99.52 (n)
cow
(Bos Taurus)
Mammalia PGS1 34 35
  • 89.57 (n)
dog
(Canis familiaris)
Mammalia PGS1 34 35
  • 89.57 (n)
rat
(Rattus norvegicus)
Mammalia Pgs1 34
  • 88.97 (n)
mouse
(Mus musculus)
Mammalia Pgs1 34 16 35
  • 88.79 (n)
oppossum
(Monodelphis domestica)
Mammalia PGS1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PGS1 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves PGS1 34 35
  • 76.05 (n)
lizard
(Anolis carolinensis)
Reptilia PGS1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pgs1 34
  • 66.28 (n)
zebrafish
(Danio rerio)
Actinopterygii PGS1 (1 of 2) 35
  • 70 (a)
OneToMany
LOC100534896 34
  • 68.29 (n)
PGS1 (2 of 2) 35
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7718 36 34 35
  • 53.29 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002662 34
  • 52.46 (n)
worm
(Caenorhabditis elegans)
Secernentea pgs-1 34 35
  • 46 (n)
Y48G1C.4 36
  • 37 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL003W 34
  • 45.33 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08580g 34
  • 44.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGS1 34 35 37
  • 42.99 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01141 34
  • 49.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBP18G5.02 34
  • 43.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToOne
Species where no ortholog for PGS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PGS1 Gene

ENSEMBL:
Gene Tree for PGS1 (if available)
TreeFam:
Gene Tree for PGS1 (if available)

Paralogs for PGS1 Gene

genes like me logo Genes that share paralogs with PGS1: view

No data available for Paralogs for PGS1 Gene

Variants for PGS1 Gene

Sequence variations from dbSNP and Humsavar for PGS1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000164166 -- 78,423,199(+) TGCTA(C/G)TTAAT intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1000191163 -- 78,378,826(+) GCCGG(A/G)ATGAG intron-variant, nc-transcript-variant, utr-variant-5-prime
rs1000261582 -- 78,401,801(+) CTCTC(C/T)TGCTG intron-variant
rs1000276694 -- 78,391,332(+) TGATT(A/G)ATTGA intron-variant
rs1000346124 -- 78,419,998(+) GGCTC(A/G)GGGAT intron-variant, nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PGS1 Gene

Variant ID Type Subtype PubMed ID
esv1002451 CNV deletion 20482838
esv3582920 CNV loss 25503493
nsv820049 CNV gain 19587683
nsv833555 CNV loss 17160897

Variation tolerance for PGS1 Gene

Residual Variation Intolerance Score: 21.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.42; 42.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PGS1 Gene

Human Gene Mutation Database (HGMD)
PGS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PGS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGS1 Gene

Disorders for PGS1 Gene

Relevant External Links for PGS1

Genetic Association Database (GAD)
PGS1
Human Genome Epidemiology (HuGE) Navigator
PGS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PGS1

No disorders were found for PGS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PGS1 Gene

Publications for PGS1 Gene

  1. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3 46 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Isolation of a chinese hamster ovary (CHO) cDNA encoding phosphatidylglycerophosphate (PGP) synthase, expression of which corrects the mitochondrial abnormalities of a PGP synthase-defective mutant of CHO-K1 cells. (PMID: 9880566) Kawasaki K. … Dowhan W. (J. Biol. Chem. 1999) 2 3 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. Discovery and refinement of loci associated with lipid levels. (PMID: 24097068) . … Abecasis G.R. (Nat. Genet. 2013) 3 64

Products for PGS1 Gene

Sources for PGS1 Gene

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