Showing entry for Pyrroline-5-carboxylate reductase 2


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT019631
Protein NamePyrroline-5-carboxylate reductase 2
Uniport IdQ96C36
GenePYCR2
Gene Id29920
DomainF420_oxidored; P5CR_dimer
Pfam PF03807   PF14748  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.5 Amino acid metabolism hsa00330 Arginine and proline metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
1. Metabolism 1.0 Global and overview maps hsa01230 Biosynthesis of amino acids
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0008652 cellular amino acid biosynthetic process
Biological Process GO:0034599 cellular response to oxidative stress
Biological Process GO:0055129 L-proline biosynthetic process
Biological Process GO:0006561 proline biosynthetic process
molecular function GO:0004735 pyrroline-5-carboxylate reductase activity
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-71291 Metabolism of amino acids and derivatives
R-HSA-8964539 Glutamate and glutamine metabolism
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003706 BXGD000215 Arachnodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0023520 BXGD001678 Leukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0034935 BXGD002497 Babinski Reflex
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0042580 BXGD002992 Vesico-Ureteral Reflux Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0239234 BXGD004974 Low set ears
C0240543 BXGD005042 Bulbous nose
C0266294 BXGD005644 Unilateral agenesis of kidney Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0266483 BXGD005680 Pachygyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266491 BXGD005683 Neuronal heterotopia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0349588 BXGD007933 Short stature
C0423109 BXGD008470 Upward slant of palpebral fissure
C0423110 BXGD008471 Downward slant of palpebral fissure
C0541794 BXGD009262 Skeletal muscle atrophy
C0557874 BXGD009444 Global developmental delay
C1142533 BXGD011758 Smooth philtrum
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1835884 BXGD014061 Triangular face
C1836543 BXGD014130 Thick vermilion border
C1839758 BXGD014402 Narrow forehead
C1840077 BXGD014434 Anteverted nostril
C1849172 BXGD015019 Frontal lobe hypoplasia
C1850456 BXGD015146 Progressive microcephaly
C1853743 BXGD015358 Muscular hypotonia of the trunk Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1854114 BXGD015383 Short nose
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1857679 BXGD015735 Sloping forehead
C1858085 BXGD015770 Malar flattening
C1865014 BXGD016282 Long philtrum
C1865017 BXGD016283 Thin upper lip vermilion
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2315100 BXGD017021 Pediatric failure to thrive Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
C2919142 BXGD017867 Short Stature, CTCAE
C3278923 BXGD018748 Dilated ventricles (finding)
C3711387 BXGD019391 Autosomal Recessive Primary Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3887506 BXGD019886 Hyperkinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3887638 BXGD019906 Failure to thrive in infant Pathological Conditions, Signs and Symptoms
C4021085 BXGD020544 Abnormality of brain morphology
C4021741 BXGD020749 Abnormal cortical bone morphology
C4025616 BXGD021697 CNS hypomyelination
C4225332 BXGD022225 LEUKODYSTROPHY, HYPOMYELINATING, 10
C4551583 BXGD023361 Cerebral cortical atrophy
C4553743 BXGD023548 Spasticity, CTCAE
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000288 L-Proline 115.13
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein