Gene table of PYCR1 : pyrroline-5-carboxylate reductase 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with PYCR1OMIM linkNumber of associated genesgenes
614438CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIBClinVar, OMIM, HUMSAVAR link to OMIM 1PYCR1
612940CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIBClinVar, OMIM, HUMSAVAR link to OMIM 1PYCR1

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Annotation of the gene PYCR1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Biosynthesis of amino acidshsa012306.58
Metabolic pathwayshsa011002.49
Arginine and proline metabolismhsa003306.84
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of amino acids and derivativesR-HSA-712915.4
MetabolismR-HSA-14307282.34
Amino acid synthesis and interconversion (transamination)R-HSA-706148.89
Associated GO terms for Molecular function
GO termGO IDGO IC
oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptorGO:00166466.79
oxidoreductase activity, acting on the CH-NH group of donorsGO:00166456.41
pyrroline-5-carboxylate reductase activityGO:00047358.13
catalytic activityGO:00038241.05
bindingGO:00054880.18
protein bindingGO:00055150.46
identical protein bindingGO:00428022.63
oxidoreductase activityGO:00164913.12