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Aliases for PGS1 Gene

Aliases for PGS1 Gene

  • Phosphatidylglycerophosphate Synthase 1 2 3 4 5
  • PGP Synthase 1 3 4
  • CDP-Diacylglycerol--Glycerol-3-Phosphate 3-Phosphatidyltransferase, Mitochondrial 3
  • EC 2.7.8.5 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 Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (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.

Additional gene information for PGS1 Gene

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

GeneHancer (GH) Regulatory Elements for PGS1 Gene

Promoters and enhancers for PGS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J078368 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 675.5 -0.7 -736 18.9 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC PGS1 SOCS3 TNRC6C LOC101928674 DNAH17 CYTH1 USP36 GC17M078378 GC17M078384 RN7SL236P
GH17J078410 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 53.3 +36.1 36110 8.2 HDAC1 ATF1 PKNOX1 SMAD1 NFIB ZNF195 RAD21 TCF12 EGR1 SCRT2 PGS1 SOCS3 USP36 DNAH17 TNRC6C-AS1 AFMID TK1 RNU6-638P LOC101928674 CYTH1
GH17J078387 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 36.5 +11.7 11701 5.5 HDGF PKNOX1 SIN3A IRF4 ZNF121 ATF7 FOS BCLAF1 IKZF2 RUNX3 PGS1 SOCS3 DNAH17 LOC101928674 CYTH1 TMC6 USP36 GC17M078384 GC17P078400 GC17M078388
GH17J078441 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 25.5 +64.2 64230 2.4 MAX BRCA1 ZNF121 POLR2A FOS CREM CHD2 TCF7L2 STAT1 RXRA PGS1 DNAH17 SOCS3 RNU6-638P C1QTNF1-AS1 CYTH1 USP36 TMC6 GC17M078388 DNAH17-AS1
GH17J078336 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 15.6 -37.5 -37493 9 PKNOX1 SIN3A IRF4 ZNF121 FOS ATF7 RUNX3 JUNB REST SREBF1 SOCS3 USP36 PGS1 ENSG00000200063 RNU6-638P CYTH1 GC17M078340 LOC105371912
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PGS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PGS1 gene promoter:

Genomic Locations for PGS1 Gene

Genomic Locations for PGS1 Gene
chr17:78,378,618-78,425,114
(GRCh38/hg38)
Size:
46,497 bases
Orientation:
Plus strand
chr17:76,374,721-76,421,195
(GRCh37/hg19)

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

Post-translational modifications for PGS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PGS1 Gene

Domains & Families for PGS1 Gene

Gene Families for PGS1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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

Function for PGS1 Gene

Molecular function for PGS1 Gene

UniProtKB/Swiss-Prot Function:
Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin.
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.

Enzyme Numbers (IUBMB) for PGS1 Gene

Phenotypes From GWAS Catalog 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,IEA --
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 Pgs1<tm1b(EUCOMM)Hmgu>

Animal Model Products

miRNA for PGS1 Gene

miRTarBase miRNAs that target PGS1

Clone Products

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Intermediate filaments (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion 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,IEA --
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
calcium Approved Nutra 0
Magnesium Approved Nutra 0
Cytidine monophosphate Experimental Pharma 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(32:0)
  • CDP-Diacylglycerol(16:0/16:0)
  • CDP-Diacylglycerol(32:0)
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(34:0)
  • CDP-Diacylglycerol(16:0/18:0)
  • CDP-Diacylglycerol(34:0)
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:

Clone Products

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, 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

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 33
  • 99.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PGS1 34 33
  • 89.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PGS1 34 33
  • 89.57 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pgs1 33
  • 88.97 (n)
mouse
(Mus musculus)
Mammalia Pgs1 16 34 33
  • 88.79 (n)
oppossum
(Monodelphis domestica)
Mammalia PGS1 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PGS1 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves PGS1 34 33
  • 76.05 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PGS1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pgs1 33
  • 66.28 (n)
zebrafish
(Danio rerio)
Actinopterygii PGS1 (1 of 2) 34
  • 70 (a)
OneToMany
LOC100534896 33
  • 68.29 (n)
PGS1 (2 of 2) 34
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7718 34 35 33
  • 53.29 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002662 33
  • 52.46 (n)
worm
(Caenorhabditis elegans)
Secernentea pgs-1 34 33
  • 46 (n)
OneToOne
Y48G1C.4 35
  • 37 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL003W 33
  • 45.33 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08580g 33
  • 44.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGS1 36 34 33
  • 42.99 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01141 33
  • 49.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBP18G5.02 33
  • 43.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PGS1: view image

Paralogs for PGS1 Gene

(15) SIMAP similar genes for PGS1 Gene using alignment to 9 proteins:

  • PGPS1_HUMAN
  • B4DLU3_HUMAN
  • K7EJP6_HUMAN
  • K7EL44_HUMAN
  • K7ELT9_HUMAN
  • K7EPX0_HUMAN
  • K7EQ89_HUMAN
  • K7EQF5_HUMAN
  • U3KQD9_HUMAN
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 Variation AA Info Type
rs1000164166 -- 78,423,199(+) G/C 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs1000191163 -- 78,378,826(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1000261582 -- 78,401,801(+) T/C intron_variant
rs1000276694 -- 78,391,332(+) G/A intron_variant
rs1000346124 -- 78,419,998(+) A/G 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant

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)

Additional Variant Information for PGS1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PGS1 Gene

Additional Disease Information for PGS1

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

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. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  2. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 44 58
  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 (The Journal of biological chemistry 1999) 2 3 58
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58
  5. Discovery and refinement of loci associated with lipid levels. (PMID: 24097068) Willer CJ … Global Lipids Genetics Consortium (Nature genetics 2013) 3 58

Products for PGS1 Gene

Sources for PGS1 Gene

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