Showing entry for Fumarylacetoacetase


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT008272
Protein NameFumarylacetoacetase
Uniport IdP16930
GeneFAH
Gene Id2184
DomainF_hydrolase; F_hydrolase_N
Pfam PF01557   PF09298  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.5 Amino acid metabolism hsa00350 Tyrosine metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006527 arginine catabolic process
Biological Process GO:1902000 homogentisate catabolic process
Biological Process GO:0006559 L-phenylalanine catabolic process
Biological Process GO:0006572 tyrosine catabolic process
molecular function GO:0004334 fumarylacetoacetase activity
molecular function GO:0046872 metal ion binding
cellular component GO:0005829 cytosol
cellular component GO:0070062 extracellular exosome
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-71291 Metabolism of amino acids and derivatives
R-HSA-8963684 Tyrosine catabolism
R-HSA-8963691 Phenylalanine and tyrosine metabolism
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003962 BXGD000244 Ascites Pathological Conditions, Signs and Symptoms
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0008370 BXGD000534 Cholestasis Digestive System Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015625 BXGD001006 Fanconi Anemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0017181 BXGD001103 Gastrointestinal Hemorrhage Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0017636 BXGD001131 Glioblastoma Neoplasms
C0017658 BXGD001138 Glomerulonephritis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0019163 BXGD001295 Hepatitis B Digestive System Diseases; Infections
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020615 BXGD001445 Hypoglycemia Nutritional and Metabolic Diseases
C0023890 BXGD001713 Liver Cirrhosis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0023895 BXGD001717 Liver diseases Digestive System Diseases
C0023903 BXGD001720 Liver neoplasms Digestive System Diseases; Neoplasms
C0025202 BXGD001832 melanoma Neoplasms
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic Diseases
C0025521 BXGD001876 Inborn Errors of Metabolism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027709 BXGD002026 Nephrocalcinosis Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0028259 BXGD002073 Nodule
C0030443 BXGD002224 Familial Periodic Paralysis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0030446 BXGD002225 Paralytic Ileus Digestive System Diseases
C0037231 BXGD002674 Sjogren-Larsson Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0038002 BXGD002723 Splenomegaly Pathological Conditions, Signs and Symptoms
C0085605 BXGD003200 Liver Failure Digestive System Diseases
C0151747 BXGD003471 Renal tubular disorder Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0155773 BXGD003820 Portal Vein Thrombosis Cardiovascular Diseases
C0162557 BXGD003956 Liver Failure, Acute Digestive System Diseases
C0178664 BXGD004032 Glomerulosclerosis (disorder) Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
C0220630 BXGD004302 Adult Liver Carcinoma Digestive System Diseases; Neoplasms
C0235971 BXGD004795 Elevated alpha-fetoprotein
C0239946 BXGD005010 Fibrosis, Liver Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0265202 BXGD005461 Seckel syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C0268483 BXGD005959 Tyrosinemias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0268486 BXGD005960 Hereditary hypertyrosinemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268487 BXGD005961 Tyrosine Transaminase Deficiency Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0268490 BXGD005962 Tyrosinemia, Type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0268621 BXGD006012 Hepatic methionine adenosyltransferase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268623 BXGD006013 Tyrosinemia, Type III Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0279000 BXGD006622 Liver and Intrahepatic Biliary Tract Carcinoma Digestive System Diseases; Neoplasms
C0341703 BXGD007419 Adult Fanconi syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0345904 BXGD007745 Malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0369183 BXGD007960 Erythrocyte Mean Corpuscular Hemoglobin Test
C0398623 BXGD008202 Thrombophilia Hemic and Lymphatic Diseases
C0542518 BXGD009278 Enlarged kidney
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0597167 BXGD009652 Islets of Langerhans hyperplasia Pathological Conditions, Signs and Symptoms
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C1261502 BXGD011856 Finding of Mean Corpuscular Hemoglobin
C1279412 BXGD012121 periodic paralysis (finding) Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1291312 BXGD012208 Deficiency of oxidase
C1291607 BXGD012222 Deficiency of maleylacetoacetate isomerase
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1458140 BXGD013134 Bleeding tendency Hemic and Lymphatic Diseases
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1608408 BXGD013434 Malignant transformation
C1623038 BXGD013475 Cirrhosis Pathological Conditions, Signs and Symptoms
C1704375 BXGD013551 Hypophosphatemic Rickets Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C1833323 BXGD013911 Rickets of the lower limbs Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C1846821 BXGD014841 Abnormality of coagulation
C1847868 BXGD014893 Generalized aminoaciduria
C1848695 BXGD014966 Episodic peripheral neuropathy
C1848701 BXGD014967 Elevated hepatic transaminase
C1848702 BXGD014968 Elevated urinary delta-aminolevulinic acid
C1879362 BXGD016576 Hypertyrosinemia
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2985280 BXGD018223 Blood Protein Measurement
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3469521 BXGD018910 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C4021664 BXGD020727 Abnormality of the abdominal wall Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C4048705 BXGD021907 Hypermethioninemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
C4732730 BXGD023895 Blood spots
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0029784 Fumaric Acid 116.01
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