Showing entry for Alpha-aminoadipic semialdehyde synthase, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT021667
Protein NameAlpha-aminoadipic semialdehyde synthase, mitochondrial
Uniport IdQ9UDR5
GeneAASS
Gene Id10157
DomainAlaDh_PNT_N; Sacchrp_dh_C; Sacchrp_dh_NADP
Pfam PF05222   PF16653   PF03435  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.5 Amino acid metabolism hsa00310 Lysine degradation
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0033512 L-lysine catabolic process to acetyl-CoA via saccharopine
Biological Process GO:0019878 lysine biosynthetic process via aminoadipic acid
Biological Process GO:0006554 lysine catabolic process
molecular function GO:0047131 saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity
molecular function GO:0047130 saccharopine dehydrogenase (NADP+, L-lysine-forming) activity
molecular function GO:0004753 saccharopine dehydrogenase activity
cellular component GO:0005737 cytoplasm
cellular component GO:0043231 intracellular membrane-bounded organelle
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-71064 Lysine catabolism
R-HSA-71291 Metabolism of amino acids and derivatives
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013581 BXGD000855 Ectopia Lentis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0019193 BXGD001299 Hepatitis, Toxic Digestive System Diseases; Chemically-Induced Disorders
C0023882 BXGD001710 Little's Disease Nervous System Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0042063 BXGD002953 Urogenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System Diseases
C0175683 BXGD003998 Citrullinemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0262630 BXGD005262 Reduced concentration span Behavior and Behavior Mechanisms
C0268553 BXGD005981 Hyperlysinemias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0268555 BXGD005982 Hyperlysinemia, Periodic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0268556 BXGD005983 Saccharopinuria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0268642 BXGD006020 Histidinuria renal tubular defect Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0349588 BXGD007933 Short stature
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0543533 BXGD009284 Hyperlysinemia, type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0860207 BXGD011220 Drug-Induced Liver Disease Digestive System Diseases; Chemically-Induced Disorders
C0936256 BXGD011483 Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1262760 BXGD011886 Hepatitis, Drug-Induced Digestive System Diseases; Chemically-Induced Disorders
C1527317 BXGD013269 Alpha-Aminoadipic Semialdehyde Deficiency Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2919142 BXGD017867 Short Stature, CTCAE
C2936921 BXGD018153 Saccharopine dehydrogenase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C3658290 BXGD019256 Drug-Induced Acute Liver Injury Digestive System Diseases; Chemically-Induced Disorders
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4021733 BXGD020741 Hyperlysinuria
C4277682 BXGD022376 Chemical and Drug Induced Liver Injury Digestive System Diseases; Chemically-Induced Disorders
C4279912 BXGD022378 Chemically-Induced Liver Toxicity Digestive System Diseases; Chemically-Induced Disorders
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000288 L-Proline 115.13
BXGC0000441 Dimethyl sulfoxide 78.13
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