Gene Gene information from NCBI Gene database.
Entrez ID 65263
Gene name Pyrroline-5-carboxylate reductase 3
Gene symbol PYCR3
Synonyms (NCBI Gene)
PYCRL
Chromosome 8
Chromosome location 8q24.3
Summary This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precurs
miRNA miRNA information provided by mirtarbase database.
26
miRTarBase ID miRNA Experiments Reference
MIRT665130 hsa-miR-4797-5p HITS-CLIP 23824327
MIRT665129 hsa-miR-5007-5p HITS-CLIP 23824327
MIRT665128 hsa-miR-500b-3p HITS-CLIP 23824327
MIRT616121 hsa-miR-1248 HITS-CLIP 23824327
MIRT665127 hsa-miR-6773-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0004735 Function Pyrroline-5-carboxylate reductase activity IBA
GO:0004735 Function Pyrroline-5-carboxylate reductase activity IDA 23024808, 36414121
GO:0004735 Function Pyrroline-5-carboxylate reductase activity IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616408 25846 ENSG00000104524
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53H96
Protein name Pyrroline-5-carboxylate reductase 3 (P5C reductase 3) (P5CR 3) (EC 1.5.1.2) (Pyrroline-5-carboxylate reductase-like protein)
Protein function Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate (P5C) to L-proline using NAD(P)H (PubMed:23024808, PubMed:36414121). Proline is synthesized from either glutamate
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03807 F420_oxidored 10 104 NADP oxidoreductase coenzyme F420-dependent Family
PF14748 P5CR_dimer 167 271 Pyrroline-5-carboxylate reductase dimerisation Domain
Sequence
Sequence length 274
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Arginine and proline metabolism
Metabolic pathways
Biosynthesis of amino acids
  Glutamate and glutamine metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Hepatocellular carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEGMATOGENOUS RETINAL DETACHMENT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Neoplasms Stimulate 36624948
★☆☆☆☆
Found in Text Mining only
Stomach Diseases Associate 40565055
★☆☆☆☆
Found in Text Mining only