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Aliases for PTGIS Gene

Aliases for PTGIS Gene

  • Prostaglandin I2 Synthase 2 3 4 5
  • Cytochrome P450, Family 8, Subfamily A, Polypeptide 1 2 3
  • Prostaglandin I2 (Prostacyclin) Synthase 2 3
  • Prostacyclin Synthase 2 3
  • CYP8A1 3 4
  • CYP8 3 4
  • EC 5.3.99.4 4
  • PGIS 3
  • PTGI 3

External Ids for PTGIS Gene

Previous GeneCards Identifiers for PTGIS Gene

  • GC20M047848
  • GC20M048758
  • GC20M048805
  • GC20M047553
  • GC20M048120
  • GC20M044868

Summaries for PTGIS Gene

Entrez Gene Summary for PTGIS Gene

  • This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for PTGIS Gene

PTGIS (Prostaglandin I2 Synthase) is a Protein Coding gene. Diseases associated with PTGIS include Hypertension, Essential and Neurogenic Bowel. Among its related pathways are Synthesis of bile acids and bile salts and Ibuprofen Pathway, Pharmacodynamics. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP8B1.

UniProtKB/Swiss-Prot for PTGIS Gene

  • Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2).

Gene Wiki entry for PTGIS Gene

PharmGKB "VIP" Summary for PTGIS Gene

No data available for CIViC summary , Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for PTGIS Gene

Genomics for PTGIS Gene

Regulatory Elements for PTGIS Gene

Enhancers for PTGIS 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
GH20G049604 1.4 FANTOM5 ENCODE dbSUPER 22.4 -37.2 -37211 1.8 ELF3 HDGF FOXA2 NFIB THRB ZNF48 ZBTB7B ZNF207 FOS RCOR1 PTGIS KCNB1 RNF114 B4GALT5 LOC105372651 GC20M049629
GH20G049762 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -202.1 -202079 14.7 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 SLC9A8 SNAI1 B4GALT5 CEBPB RNU6-919P ZNFX1 PTGIS LINC01273 KCNB1 RNF114
GH20G050481 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -915.2 -915178 3.6 HDGF PKNOX1 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 ENSG00000232043 PTPN1 DPM1 CEBPB PSMD10P1 MIR645 PTGIS ADNP-AS1 RNF114 TMEM189
GH20G049582 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -16.4 -16350 3.1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 FOS SP5 PTGIS KCNB1 RNU6-919P SLC9A8 LOC105372651
GH20G050507 1.8 FANTOM5 ENCODE dbSUPER 11.6 -947.2 -947181 14.7 MLX CREB3L1 AGO1 ZFP64 YBX1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ENSG00000232043 CEBPB DPM1 PSMD10P1 PTPN1 MIR645 PTGIS LINC01273 LOC101927512 PARD6B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTGIS on UCSC Golden Path with GeneCards custom track

Promoters for PTGIS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000138267 -30 801 PKNOX1 SIN3A NFXL1 FOS PCBP1 EGR2 GATAD2B REST ZNF398 ZNF592

Genomic Location for PTGIS Gene

Chromosome:
20
Start:
49,503,874 bp from pter
End:
49,568,170 bp from pter
Size:
64,297 bases
Orientation:
Minus strand

Genomic View for PTGIS Gene

Genes around PTGIS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PTGIS Gene

Proteins for PTGIS Gene

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

    Protein Symbol:
    Q16647-PTGIS_HUMAN
    Recommended name:
    Prostacyclin synthase
    Protein Accession:
    Q16647
    Secondary Accessions:
    • Q3MII8
    • Q9HAX2
    • Q9HAX3
    • Q9HAX4

    Protein attributes for PTGIS Gene

    Size:
    500 amino acids
    Molecular mass:
    57104 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PTGIS Gene

neXtProt entry for PTGIS Gene

Post-translational modifications for PTGIS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PTGIS Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for PTGIS (Prostaglandin I2 Synthase)
  • Abcam antibodies for PTGIS
  • Cloud-Clone Corp. Antibodies for PTGIS

No data available for DME Specific Peptides for PTGIS Gene

Domains & Families for PTGIS Gene

Gene Families for PTGIS Gene

Protein Domains for PTGIS Gene

Suggested Antigen Peptide Sequences for PTGIS Gene

Graphical View of Domain Structure for InterPro Entry

Q16647

UniProtKB/Swiss-Prot:

PTGIS_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with PTGIS: view

Function for PTGIS Gene

Molecular function for PTGIS Gene

GENATLAS Biochemistry:
prostaglandin 12 synthase
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=9.55 uM for 6-keto-PGF1alpha {ECO:0000269 PubMed:25623425}; Vmax=534 mmol/min/pg enzyme {ECO:0000269 PubMed:25623425};
UniProtKB/Swiss-Prot CatalyticActivity:
(5Z,13E)-(15S)-9-alpha,11-alpha-epidioxy-15-hydroxyprosta-5,13-dienoate = (5Z,13E)-(15S)-6,9-alpha-epoxy-11-alpha,15-dihydroxyprosta-5,13-dienoate.
UniProtKB/Swiss-Prot Function:
Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2).

Enzyme Numbers (IUBMB) for PTGIS Gene

Gene Ontology (GO) - Molecular Function for PTGIS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 20122998
GO:0008116 prostaglandin-I synthase activity TAS --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with PTGIS: view
genes like me logo Genes that share phenotypes with PTGIS: view

Human Phenotype Ontology for PTGIS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTGIS Gene

MGI Knock Outs for PTGIS:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTGIS

miRNA for PTGIS Gene

miRTarBase miRNAs that target PTGIS

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PTGIS Gene

Localization for PTGIS Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTGIS Gene

Endoplasmic reticulum membrane; Single-pass membrane protein.

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 PTGIS gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 2
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PTGIS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space ISS --
GO:0005634 nucleus IDA 21035466
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 21035466
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with PTGIS: view

Pathways & Interactions for PTGIS Gene

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

Gene Ontology (GO) - Biological Process for PTGIS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001516 prostaglandin biosynthetic process IDA 20122998
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006690 icosanoid metabolic process TAS --
genes like me logo Genes that share ontologies with PTGIS: view

No data available for SIGNOR curated interactions for PTGIS Gene

Drugs & Compounds for PTGIS Gene

(13) Drugs for PTGIS Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenylbutazone Approved, Vet_approved Pharma inhibitor, Target 0
Epoprostenol Approved Pharma Target, inducer 54
(6E)-7-{6-[(1E)-OCT-1-ENYL]-2,3-DIAZABICYCLO[2.2.1]HEPT-2-EN-5-YL}HEPT-6-ENOIC ACID Experimental Pharma Target 0
heme Pharma Agonist 0

(21) Additional Compounds for PTGIS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Prostaglandin H2
  • (15S)Hydroxy-9alpha,11alpha-(epoxymethano)prosta-5,13-dienoate
  • (15S)Hydroxy-9alpha,11alpha-(epoxymethano)prosta-5,13-dienoic acid
  • (5Z)-7-{(1R,4S,5R,6R)-6-[(1E,3S)-3-hydroxyoct-1-en-1-yl]-2,3-dioxabicyclo[2.2.1]hept-5-yl}hept-5-enoate
  • (5Z)-7-{(1R,4S,5R,6R)-6-[(1E,3S)-3-hydroxyoct-1-en-1-yl]-2,3-dioxabicyclo[2.2.1]hept-5-yl}hept-5-enoic acid
  • (5Z,13E)-(15S)-9,11-epidioxy-15-hydroxyprosta-5,13-dienoate
42935-17-1
genes like me logo Genes that share compounds with PTGIS: view

Transcripts for PTGIS Gene

mRNA/cDNA for PTGIS Gene

Unigene Clusters for PTGIS Gene

Prostaglandin I2 (prostacyclin) synthase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for PTGIS Gene

GeneLoc Exon Structure for
PTGIS
ECgene alternative splicing isoforms for
PTGIS

Expression for PTGIS Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Artery - Coronary (x5.8), Artery - Aorta (x5.8), and Artery - Tibial (x4.0).

Protein differential expression in normal tissues from HIPED for PTGIS Gene

This gene is overexpressed in Urinary Bladder (12.9), Testis (11.5), and Uterus (9.2).

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



Protein tissue co-expression partners for PTGIS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTGIS Gene:

PTGIS

SOURCE GeneReport for Unigene cluster for PTGIS Gene:

Hs.302085

mRNA Expression by UniProt/SwissProt for PTGIS Gene:

Q16647-PTGIS_HUMAN
Tissue specificity: Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate.

Evidence on tissue expression from TISSUES for PTGIS Gene

  • Nervous system(4.3)
  • Heart(2.8)
  • Muscle(2.5)
  • Lung(2.1)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTGIS Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Organs:
Head and neck:
  • ear
Thorax:
  • heart
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with PTGIS: view

Primer Products

Orthologs for PTGIS Gene

This gene was present in the common ancestor of chordates.

Orthologs for PTGIS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTGIS 34 35
  • 98.68 (n)
cow
(Bos Taurus)
Mammalia PTGIS 34 35
  • 87.2 (n)
dog
(Canis familiaris)
Mammalia PTGIS 34 35
  • 86.85 (n)
mouse
(Mus musculus)
Mammalia Ptgis 34 16 35
  • 84.31 (n)
rat
(Rattus norvegicus)
Mammalia Ptgis 34
  • 82.43 (n)
oppossum
(Monodelphis domestica)
Mammalia PTGIS 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTGIS 35
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTGIS 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptgis 34
  • 59.86 (n)
zebrafish
(Danio rerio)
Actinopterygii ptgis 34 35
  • 55.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4049 35
  • 34 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
Species where no ortholog for PTGIS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PTGIS Gene

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

Paralogs for PTGIS Gene

Paralogs for PTGIS Gene

(4) SIMAP similar genes for PTGIS Gene using alignment to 3 proteins:

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

Variants for PTGIS Gene

Sequence variations from dbSNP and Humsavar for PTGIS Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs61734270 Likely pathogenic 49,524,089(+) GGGCC(C/T)GTGCC reference, missense
rs1000041854 -- 49,566,793(+) ATGTG(A/G)TAACT intron-variant, upstream-variant-2KB
rs1000108429 -- 49,527,718(+) CTGAA(G/T)TATAC intron-variant
rs1000141289 -- 49,520,128(+) TCCGG(C/G)AGCTC intron-variant
rs1000166373 -- 49,503,779(+) AAGGG(A/G)CAGAG downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
dgv4323n100 CNV loss 25217958
esv2762080 CNV loss 21179565
esv3568005 CNV loss 25503493
esv3646015 CNV loss 21293372
nsv1065852 CNV loss 25217958
nsv586173 CNV loss 21841781
nsv586174 CNV loss 21841781
nsv586175 CNV loss 21841781
nsv586176 CNV loss 21841781

Variation tolerance for PTGIS Gene

Residual Variation Intolerance Score: 94.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.95; 49.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTGIS Gene

Human Gene Mutation Database (HGMD)
PTGIS
The Human Cytochrome P450 Allele Nomenclature Database
PTGIS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTGIS

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

Disorders for PTGIS Gene

MalaCards: The human disease database

(10) MalaCards diseases for PTGIS Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypertension, essential
  • hypertension, essential 3
neurogenic bowel
atherosclerosis
  • arteriosclerosis
female stress incontinence
  • female urinary stress incontinence
stroke, ischemic
  • ischemic stroke
- elite association - COSMIC cancer census association via MalaCards
Search PTGIS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTGIS_HUMAN
  • Essential hypertension (EHT) [MIM:145500]: A condition in which blood pressure is consistently higher than normal with no identifiable cause. {ECO:0000269 PubMed:12372404}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for PTGIS

Genetic Association Database (GAD)
PTGIS
Human Genome Epidemiology (HuGE) Navigator
PTGIS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTGIS
genes like me logo Genes that share disorders with PTGIS: view

No data available for Genatlas for PTGIS Gene

Publications for PTGIS Gene

  1. Splicing mutation of the prostacyclin synthase gene in a family associated with hypertension. (PMID: 12372404) Nakayama T. … Oates J.A. (Biochem. Biophys. Res. Commun. 2002) 3 4 22 46 64
  2. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PMID: 19336370) Dagle J.M. … Murray J.C. (Pediatrics 2009) 3 22 46 64
  3. [Association of GLu461ALa polymorphism of prostacyclin synthase gene with myocardial infarction in Uigur population]. (PMID: 19534932) Xie X. … Liu F. (Zhonghua Yu Fang Yi Xue Za Zhi 2009) 3 22 46 64
  4. Variation in eicosanoid genes, non-fatal myocardial infarction and ischemic stroke. (PMID: 19046748) Lemaitre R.N. … Psaty B.M. (Atherosclerosis 2009) 3 22 46 64
  5. A quantitative trait locus for SBP maps near KCNB1 and PTGIS in a population isolate. (PMID: 19265782) BarbaliA8 M. … Rudan P. (Am. J. Hypertens. 2009) 3 22 46 64

Products for PTGIS Gene

Sources for PTGIS Gene

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