Showing entry for 5-aminolevulinate synthase, erythroid-specific, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT008783
Protein Name5-aminolevulinate synthase, erythroid-specific, mitochondrial
Uniport IdP22557
GeneALAS2
Gene Id212
DomainAminotran_1_2; Preseq_ALAS
Pfam PF00155   PF09029  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.5 Amino acid metabolism hsa00260 Glycine, serine and threonine metabolism
1. Metabolism 1.8 Metabolism of cofactors and vitamins hsa00860 Porphyrin and chlorophyll metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006879 cellular iron ion homeostasis
Biological Process GO:0048821 erythrocyte development
Biological Process GO:0030218 erythrocyte differentiation
Biological Process GO:0006783 heme biosynthetic process
Biological Process GO:0042541 hemoglobin biosynthetic process
Biological Process GO:0032364 oxygen homeostasis
Biological Process GO:0006782 protoporphyrinogen IX biosynthetic process
Biological Process GO:0001666 response to hypoxia
molecular function GO:0003870 5-aminolevulinate synthase activity
molecular function GO:0016594 glycine binding
molecular function GO:0030170 pyridoxal phosphate binding
cellular component GO:0005743 mitochondrial inner membrane
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-189445 Metabolism of porphyrins
R-HSA-189451 Heme biosynthesis
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0002878 BXGD000137 Anemia, Hemolytic Hemic and Lymphatic Diseases
C0002886 BXGD000144 Anemia, Macrocytic Hemic and Lymphatic Diseases
C0002893 BXGD000150 Refractory anemias Hemic and Lymphatic Diseases
C0002895 BXGD000152 Anemia, Sickle Cell Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0002896 BXGD000153 Sideroblastic anemia Hemic and Lymphatic Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013404 BXGD000833 Dyspnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0018801 BXGD001226 Heart failure Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0018995 BXGD001265 Hemochromatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0019045 BXGD001269 Hemoglobinopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0019207 BXGD001303 Hepatoma, Morris Digestive System Diseases; Neoplasms
C0019208 BXGD001304 Hepatoma, Novikoff Digestive System Diseases; Neoplasms
C0020433 BXGD001379 Hyperbilirubinemia Pathological Conditions, Signs and Symptoms
C0020435 BXGD001380 Hyperbilirubinemia, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0023440 BXGD001646 Acute Erythroblastic Leukemia Neoplasms; Hemic and Lymphatic Diseases
C0023895 BXGD001717 Liver diseases Digestive System Diseases
C0023904 BXGD001721 Liver Neoplasms, Experimental Digestive System Diseases; Neoplasms
C0026703 BXGD001919 Mucopolysaccharidoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0026709 BXGD001924 Mucopolysaccharidosis VI Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0030232 BXGD002197 Pallor Pathological Conditions, Signs and Symptoms
C0032708 BXGD002368 Disorders of Porphyrin Metabolism Nutritional and Metabolic Diseases
C0033975 BXGD002447 Psychotic Disorders Mental Disorders
C0038002 BXGD002723 Splenomegaly Pathological Conditions, Signs and Symptoms
C0085078 BXGD003118 Lysosomal Storage Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0085576 BXGD003188 Iron-Refractory Iron Deficiency Anemia Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0086404 BXGD003278 Experimental Hepatoma Digestive System Diseases; Neoplasms
C0087012 BXGD003318 Ataxia, Spinocerebellar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0162530 BXGD003949 Porphyria, Erythropoietic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0162565 BXGD003957 Acute intermittent porphyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0162568 BXGD003959 Erythropoietic Protoporphyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0162834 BXGD003988 Hyperpigmentation Skin and Connective Tissue Diseases
C0221018 BXGD004366 Hereditary sideroblastic anemia Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0231807 BXGD004524 Dyspnea on exertion Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0262380 BXGD005232 Asymptomatic bacteriuria Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
C0271650 BXGD006227 Impaired glucose tolerance Nutritional and Metabolic Diseases
C0271901 BXGD006277 Microcytic hypochromic anemia (disorder) Hemic and Lymphatic Diseases
C0271979 BXGD006283 Thalassemia Intermedia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0272024 BXGD006295 Secondary acquired sideroblastic anemia Hemic and Lymphatic Diseases
C0272027 BXGD006296 Pyridoxine-responsive sideroblastic anemia Hemic and Lymphatic Diseases
C0282193 BXGD006798 Iron Overload Nutritional and Metabolic Diseases
C0340044 BXGD007300 Acute exacerbation of chronic obstructive airways disease Respiratory Tract Diseases
C0343386 BXGD007620 Clostridium difficile infection Infections
C0349204 BXGD007892 Nonorganic psychosis Mental Disorders
C0349506 BXGD007912 Photosensitivity of skin Skin and Connective Tissue Diseases
C0349782 BXGD007954 Ischemic cardiomyopathy Cardiovascular Diseases
C0392514 BXGD008051 Hereditary hemochromatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0520680 BXGD009102 Sleep Apnea, Central Respiratory Tract Diseases; Nervous System Diseases
C0524620 BXGD009236 Metabolic Syndrome X Nutritional and Metabolic Diseases
C0524910 BXGD009248 Hepatitis C, Chronic Digestive System Diseases; Infections
C0581384 BXGD009568 Chronic anemia Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
C0751039 BXGD010302 Cockayne Syndrome, Type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0751202 BXGD010347 Cystathionine beta-Synthase Deficiency Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C1136249 BXGD011715 Mental Retardation, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1264195 BXGD011913 Refractory anemia with ringed sideroblasts Hemic and Lymphatic Diseases
C1837352 BXGD014223 Childhood onset
C1845977 BXGD014769 X- linked recessive
C1847879 BXGD014895 X-linked dominant inheritance
C1848701 BXGD014967 Elevated hepatic transaminase
C1861403 BXGD016045 Variable expressivity
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2347748 BXGD017041 Adult Erythroleukemia
C2677889 BXGD017391 Protoporphyria, Erythropoietic, X-Linked Dominant Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C2826330 BXGD017791 Refractory anemia with ring sideroblasts associated with marked thrombocytosis Hemic and Lymphatic Diseases
C2931498 BXGD018030 Mental Retardation, X-Linked 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C2981142 BXGD018210 Refractory anemia, without ringed sideroblasts, without excess blasts Hemic and Lymphatic Diseases
C3463824 BXGD018899 MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4023007 BXGD021061 Increased erythrocyte protoporphyrin concentration
C4023583 BXGD021222 Abnormality of iron homeostasis
C4025183 BXGD021579 Macrocytic dyserythropoietic anemia Hemic and Lymphatic Diseases
C4082937 BXGD022095 Necrotizing enterocolitis in fetus OR newborn Digestive System Diseases
C4520840 BXGD023041 Erythroleukemia (Erythroid/Myeloid) Neoplasms; Hemic and Lymphatic Diseases
C4551511 BXGD023330 X-linked sideroblastic anemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000226 Glycine 75.07
BXGC0043088 Pyridoxal Phosphate 247.02
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