Showing entry for Delta-1-pyrroline-5-carboxylate synthase


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT011092
Protein NameDelta-1-pyrroline-5-carboxylate synthase
Uniport IdP54886
GeneALDH18A1
Gene Id5832
Domain_kinase; Aldedh
Pfam PF00696   PF00171  
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:0019240 citrulline biosynthetic process
Biological Process GO:0006536 glutamate metabolic process
Biological Process GO:0055129 L-proline biosynthetic process
Biological Process GO:0006592 ornithine biosynthetic process
Biological Process GO:0006561 proline biosynthetic process
molecular function GO:0005524 ATP binding
molecular function GO:0004349 glutamate 5-kinase activity
molecular function GO:0004350 glutamate-5-semialdehyde dehydrogenase activity
molecular function GO:0042802 identical protein binding
molecular function GO:0003723 RNA binding
cellular component GO:0005743 mitochondrial inner membrane
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000921 BXGD000019 Accidental Falls
C0003486 BXGD000197 Aortic Aneurysm Cardiovascular Diseases
C0003742 BXGD000218 Arcus Senilis Eye Diseases
C0004158 BXGD000261 Athetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0009782 BXGD000631 Connective Tissue Diseases Skin and Connective Tissue Diseases
C0010038 BXGD000643 Corneal Opacity Eye Diseases
C0010495 BXGD000674 Cutis Laxa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013990 BXGD000874 Pathological accumulation of air in tissues Pathological Conditions, Signs and Symptoms
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0016842 BXGD001083 Congenital pectus excavatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0018681 BXGD001214 Headache Pathological Conditions, Signs and Symptoms
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0019270 BXGD001311 Hernia Pathological Conditions, Signs and Symptoms
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0023222 BXGD001620 Pain in lower limb
C0024031 BXGD001727 Low Back Pain Pathological Conditions, Signs and Symptoms
C0025202 BXGD001832 melanoma Neoplasms
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026034 BXGD001887 Microstomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0026266 BXGD001895 Mitral Valve Insufficiency Cardiovascular Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0027092 BXGD001971 Myopia Eye Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0033300 BXGD002403 Progeria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0033975 BXGD002447 Psychotic Disorders Mental Disorders
C0034152 BXGD002467 Henoch-Schoenlein Purpura Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0034372 BXGD002480 Quadriplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0034935 BXGD002497 Babinski Reflex
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037301 BXGD002686 Skin Wrinkling
C0037763 BXGD002699 Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037771 BXGD002702 Paraparesis, Spastic Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037772 BXGD002703 Spastic Paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037773 BXGD002704 Spastic Paraplegia, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0038505 BXGD002765 Sturge-Weber Syndrome Neoplasms; Nervous System Diseases; Cardiovascular Diseases
C0039273 BXGD002806 Talipes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0042023 BXGD002948 Increased frequency of micturition Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042024 BXGD002949 Urinary Incontinence Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0080274 BXGD003111 Urinary Retention Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0085606 BXGD003201 Urgency of micturition Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0152421 BXGD003586 Macrotia
C0153676 BXGD003679 Secondary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221356 BXGD004448 Brachycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0231686 BXGD004508 Gait, Unsteady Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0231687 BXGD004509 Spastic gait Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0232466 BXGD004543 Feeding difficulties
C0233794 BXGD004618 Memory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0234378 BXGD004661 Static Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234517 BXGD004682 Anarthria speech disorder Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234535 BXGD004688 Clonic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235259 BXGD004735 Subcapsular cataract Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0239234 BXGD004974 Low set ears
C0240116 BXGD005020 Hyperactive patellar reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0241074 BXGD005078 Hyperextensible skin
C0241654 BXGD005104 Abnormal heart valve morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0264133 BXGD005367 Acquired flat foot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0265316 BXGD005513 Neurocutaneous Syndromes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases
C0268350 BXGD005908 Cutis Laxa, Autosomal Dominant Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0268354 BXGD005910 De Barsy syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0268540 BXGD005976 HHH syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0271385 BXGD006193 Horizontal Nystagmus Eye Diseases; Nervous System Diseases
C0271683 BXGD006234 Polyneuropathy, Motor Nervous System Diseases
C0277828 BXGD006480 Late fontanel closure
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0349588 BXGD007933 Short stature
C0392477 BXGD008047 Congenital flat foot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0393556 BXGD008089 Complicated hereditary spastic paraplegia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0409338 BXGD008381 Flexion contracture - elbow
C0410935 BXGD008453 Wide cranial sutures
C0422895 BXGD008464 Primitive reflex
C0423757 BXGD008504 Thin skin
C0424230 BXGD008522 Motor retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0424503 BXGD008532 Dysmorphic facies
C0424711 BXGD008541 Orbital separation diminished
C0427144 BXGD008607 Toe-walking gait
C0431369 BXGD008674 Dysgenesis of corpus callosum
C0431370 BXGD008675 Atrophy of corpus callosum Nervous System Diseases
C0454596 BXGD008842 Dysarthria, Spastic Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0456132 BXGD008869 Large fontanelle
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0521707 BXGD009166 Bilateral cataracts (disorder) Eye Diseases
C0541764 BXGD009259 Delayed bone age
C0541794 BXGD009262 Skeletal muscle atrophy
C0542223 BXGD009274 Loss of speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0542476 BXGD009276 Forgetful Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0557874 BXGD009444 Global developmental delay
C0558845 BXGD009459 Reflex, Ankle, Absent Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0581342 BXGD009560 Redundant skin Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0728829 BXGD009917 Congenital pes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0743332 BXGD010081 Focal Dystonia Nervous System Diseases
C0751602 BXGD010520 Hereditary Autosomal Dominant Spastic Paraplegia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1112321 BXGD011661 Congenital cutis laxa Skin and Connective Tissue Diseases
C1136179 BXGD011712 Hammer Toe Musculoskeletal Diseases
C1184923 BXGD011800 Lumbar hyperlordosis Musculoskeletal Diseases
C1263857 BXGD011900 Peripheral axonal neuropathy Nervous System Diseases
C1271100 BXGD012007 Lower limb spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1386048 BXGD012950 Intrauterine retardation
C1389102 BXGD012964 Atrophy of the spinal cord
C1389113 BXGD012965 Generalized amyotrophy
C1395674 BXGD012990 Bowel diverticulosis
C1832669 BXGD013868 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C1832671 BXGD013869 Dysfunction of lateral corticospinal tracts
C1835884 BXGD014061 Triangular face
C1836296 BXGD014105 Muscle Weakness Lower Limb Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836308 BXGD014107 Generalized joint laxity
C1836696 BXGD014151 Lower limb hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1836843 BXGD014168 Progressive inability to walk
C1837260 BXGD014214 Prominent forehead
C1837761 BXGD014266 Narrow nasal ridge
C1837770 BXGD014270 Sparse hair
C1838319 BXGD014309 Primitive reflexes (palmomental, snout, glabellar) Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1843175 BXGD014563 Hyperreflexia in upper limbs Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1843885 BXGD014616 Progressive gait ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1843921 BXGD014620 Postural instability Nervous System Diseases
C1844820 BXGD014681 Range of joint movement increased
C1845245 BXGD014730 Lower limb hypertonia
C1846017 BXGD014776 Progressive pes cavus
C1848771 BXGD014974 Prominent superficial blood vessels Skin and Connective Tissue Diseases
C1849089 BXGD015004 Broad forehead
C1849115 BXGD015007 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1849134 BXGD015010 Impaired vibration sensation in the lower limbs
C1853237 BXGD015319 Isolated cases
C1853377 BXGD015331 Enlarged cisterna magna
C1854301 BXGD015391 Motor delay Mental Disorders
C1854372 BXGD015395 Impaired vibration sensation at ankles
C1854494 BXGD015409 Slow progression
C1854838 BXGD015438 Progressive neurologic deterioration Mental Disorders
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1855285 BXGD015483 Protruding ear
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1859778 BXGD015931 Postnatal growth retardation
C1863749 BXGD016195 Carpal bone hypoplasia
C1866129 BXGD016375 Abnormality of the cerebellum Nervous System Diseases
C1866231 BXGD016388 Full cheeks
C1956257 BXGD016623 Pulmonary Stenosis Cardiovascular Diseases
C1963167 BXGD016686 Memory Impairment, CTCAE 3.0
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2673431 BXGD017202 Abnormality of the periventricular white matter Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2673700 BXGD017223 Brisk reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2751987 BXGD017751 Cutis Laxa, Autosomal Recessive, Type IIB Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C2931356 BXGD018007 Spastic paraplegia type 5A, recessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C3489393 BXGD018928 Hiatal Hernia Pathological Conditions, Signs and Symptoms
C3553764 BXGD019187 Joint hyperflexibility
C3554617 BXGD019228 Adducted thumb Musculoskeletal Diseases
C3642345 BXGD019244 Luminal A Breast Carcinoma
C3642346 BXGD019245 Luminal B Breast Carcinoma
C3665335 BXGD019275 Cutis laxa, autosomal recessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C3665464 BXGD019289 Dementia due to Alzheimer's disease (disorder) Nervous System Diseases; Mental Disorders
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3840083 BXGD019793 Late closure of anterior fontanel
C3887485 BXGD019877 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
C4020847 BXGD020486 Abnormality of pelvic girdle bone morphology
C4021790 BXGD020782 Abnormality of the skeletal system
C4023376 BXGD021168 Abnormality of the dorsal column of the spinal cord
C4023691 BXGD021245 Abnormality of pain sensation Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4024603 BXGD021335 Atrophy of quadriceps femoris muscle Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4025723 BXGD021757 Abnormal upper motor neuron morphology
C4025790 BXGD021791 Specific learning disability
C4225268 BXGD022201 CUTIS LAXA, AUTOSOMAL DOMINANT 3
C4225272 BXGD022203 SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
C4281993 BXGD022418 Neonatal respiratory distress Respiratory Tract Diseases
C4476943 BXGD022893 Impaired continence
C4529962 BXGD023178 Fatty Liver Disease
C4551563 BXGD023351 Microcephaly (physical finding)
C4551583 BXGD023361 Cerebral cortical atrophy
C4551649 BXGD023382 Congenital Dysplasia Of The Hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4553743 BXGD023548 Spasticity, CTCAE
C4553765 BXGD023551 Memory Impairment, CTCAE 5.0
C4553976 BXGD023554 Urinary Urgency, CTCAE 5
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0006162 L-Glutamic acid 147.13
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