Aliases for PGS1 Gene

Aliases for PGS1 Gene

  • Phosphatidylglycerophosphate Synthase 1 2 3 4 5
  • CDP-Diacylglycerol--Glycerol-3-Phosphate 3-Phosphatidyltransferase, Mitochondrial 3 4
  • PGP Synthase 1 3 4
  • EC 2.7.8.5 4 50
  • DKFZP762M186 2
  • PGS1 5

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. Diseases associated with PGS1 include Cone-Rod Dystrophy 1. 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 Summary 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 , Rfam classification and piRNA Summary for PGS1 Gene

Genomics for PGS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PGS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PGS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PGS1

Top Transcription factor binding sites by QIAGEN in the PGS1 gene promoter:
  • AP-4
  • c-Myb
  • IRF-7A
  • NRSF form 1
  • NRSF form 2
  • STAT5B

Genomic Locations for PGS1 Gene

Latest Assembly
chr17:78,378,623-78,425,114
(GRCh38/hg38)
Size:
46,492 bases
Orientation:
Plus strand

Previous Assembly
chr17:76,374,730-76,420,740
(GRCh37/hg19 by Entrez Gene)
Size:
46,011 bases
Orientation:
Plus strand

chr17:76,374,721-76,421,195
(GRCh37/hg19 by Ensembl)
Size:
46,475 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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH35662.1; Type=Frameshift; 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

Gene Families for PGS1 Gene

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

Protein Domains for PGS1 Gene

Suggested Antigen Peptide Sequences for PGS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55337, highly similar to Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA (B4DLU3_HUMAN)
  • Phosphatidylglycerophosphate synthase 1 (PGPS1_HUMAN)

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:
Reaction=a CDP-1,2-diacyl-sn-glycerol + sn-glycerol 3-phosphate = 1,2-diacyl-sn-glycero-3-phospho-(1'-sn-glycero-3'-phosphate) + CMP + H(+); Xref=Rhea:RHEA:12593, ChEBI:CHEBI:15378, ChEBI:CHEBI:57597, ChEBI:CHEBI:58332, ChEBI:CHEBI:60110, ChEBI:CHEBI:60377; EC=2.7.8.5;.
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:0000166 nucleotide binding IEA --
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 IEA,ISS --
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 Models for research

miRNA for PGS1 Gene

miRTarBase miRNAs that target PGS1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
nucleus 1
cytosol 1
peroxisome 0
lysosome 0

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PGS1 Gene

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 IEA,ISS --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0032049 cardiolipin biosynthetic process IEA,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
Magnesium Approved, Experimental, Investigational Pharma 0
Cytidine monophosphate Experimental Pharma 0
Calcium Nutra 6959

(41) 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

mRNA/cDNA for PGS1 Gene

1 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for PGS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

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 29 30
  • 99.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PGS1 29 30
  • 89.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PGS1 29 30
  • 89.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pgs1 29
  • 88.97 (n)
Mouse
(Mus musculus)
Mammalia Pgs1 29 16 30
  • 88.79 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PGS1 30
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PGS1 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PGS1 29 30
  • 76.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PGS1 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pgs1 29
  • 66.28 (n)
Zebrafish
(Danio rerio)
Actinopterygii PGS1 (1 of 2) 30
  • 70 (a)
OneToMany
LOC100534896 29
  • 68.29 (n)
PGS1 (2 of 2) 30
  • 49 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG7718 29 30 31
  • 53.29 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002662 29
  • 52.46 (n)
Worm
(Caenorhabditis elegans)
Secernentea pgs-1 29 30
  • 46 (n)
OneToOne
Y48G1C.4 31
  • 37 (a)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAL003W 29
  • 45.33 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08580g 29
  • 44.47 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGS1 29 30 32
  • 42.99 (n)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU01141 29
  • 49.18 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBP18G5.02 29
  • 43.62 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for PGS1

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PGS1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs372229822 Uncertain Significance: Severe Myopia 78,414,989(+) G/A
NM_024419.5(PGS1):c.1513G>A (p.Val505Met)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PGS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
PGS1

SNP Genotyping and Copy Number Assays for research

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

Disorders for PGS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PGS1 Gene - From: COP

Disorder Aliases PubMed IDs
cone-rod dystrophy 1
  • cord1
- elite association - COSMIC cancer census association via MalaCards
Search PGS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PGS1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PGS1: view

No data available for 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 TM … Kathiresan S (Nature 2010) 3 40
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  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
  4. FAM105A/OTULINL Is a Pseudodeubiquitinase of the OTU-Class that Localizes to the ER Membrane. (PMID: 31056421) Ceccarelli DF … Sicheri F (Structure (London, England : 1993) 2019) 3
  5. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. (PMID: 28986522) Antoniali G … Tell G (Nature communications 2017) 3

Products for PGS1 Gene

Sources for PGS1 Gene