GeneBe

PTGR1

prostaglandin reductase 1

Basic information

Region (hg38): 9:111549722-111599893

Previous symbols: [ "LTB4DH" ]

Links

ENSG00000106853 ∙ NCBI:22949 ∙ OMIM:601274 ∙ HGNC:18429 ∙ Uniprot:Q14914 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PTGR1 gene.

  • not_specified (38 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTGR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001146108.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
35
clinvar
4
clinvar
 39
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 35 4 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PTGR1protein_codingprotein_codingENST00000407693 950134
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
3.54e-80.34112551702311257480.000919
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4121641800.9140.000009132123
Missense in Polyphen4146.6040.87975560
Synonymous0.3646265.80.9430.00000351650
Loss of Function0.6691315.90.8196.66e-7220

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005410.000539
Ashkenazi Jewish0.00009920.0000992
East Asian0.000.00
Finnish0.001710.00171
European (Non-Finnish)0.001330.00132
Middle Eastern0.000.00
South Asian0.0008820.000882
Other0.0004890.000489

dbNSFP

Source: dbNSFP

Function
FUNCTION: Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-oxo-PGE1, 15-oxo-PGE2 and 15-oxo-PGE2-alpha. Has no activity towards PGE1, PGE2 and PGE2-alpha (By similarity). Catalyzes the conversion of leukotriene B4 into its biologically less active metabolite, 12-oxo-leukotriene B4. This is an initial and key step of metabolic inactivation of leukotriene B4. {ECO:0000250}.;
Pathway
Nuclear Receptors Meta-Pathway;NRF2 pathway;Metabolism of lipids;Synthesis of Leukotrienes (LT) and Eoxins (EX);Arachidonic acid metabolism;Glycine Serine metabolism;Synthesis of Lipoxins (LX);Metabolism;Biosynthesis of specialized proresolving mediators (SPMs);Fatty acid metabolism;sphingosine and sphingosine-1-phosphate metabolism (Consensus)

Recessive Scores

pRec
0.0989

Intolerance Scores

loftool
0.955
rvis_EVS
0.11
rvis_percentile_EVS
61.73

Haploinsufficiency Scores

pHI
0.0900
hipred
N
hipred_score
0.380
ghis
0.398

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0766

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ptgr1
Phenotype

Gene ontology

Biological process
leukotriene metabolic process;prostaglandin metabolic process;oxidation-reduction process;response to antineoplastic agent
Cellular component
cytoplasm;extracellular exosome
Molecular function
2-alkenal reductase [NAD(P)] activity;13-prostaglandin reductase activity;15-oxoprostaglandin 13-oxidase activity