Details of Drug-Metabolizing Enzyme (DME)

General Information of Drug-Metabolizing Enzyme (DME) (ID: DE437BY)

DME Name Delta-aminolevulinate synthase 2 (ALAS2)
Synonyms Erythroid-specific mitochondrial 5-aminolevulinate synthase; Delta-ALA synthase 2; 5-aminolevulinic acid synthase 2; ALAS-E; ALAS2; ALASE
Gene Name ALAS2
UniProt ID
HEM0_HUMAN
INTEDE ID
DME0487
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Gene ID
212
EC Number EC: 2.3.1.37
Transferase
Acyltransferase
Acyltransferase
EC: 2.3.1.37
Lineage Species: Homo sapiens
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
Sequence
MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGG
DSPSWAKGHCPFMLSELQDGKSKIVQKAAPEVQEDVKAFKTDLPSSLVSVSLRKPFSGPQ
EQEQISGKVTHLIQNNMPGNYVFSYDQFFRDKIMEKKQDHTYRVFKTVNRWADAYPFAQH
FSEASVASKDVSVWCSNDYLGMSRHPQVLQATQETLQRHGAGAGGTRNISGTSKFHVELE
QELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYSDAGNHASMIQGIRNSGAAKF
VFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICPLEELCDVSHQYGALTFVDEVH
AVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFT
TSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRV
GNAALNSKLCDLLLSKHGIYVQAINYPTVPRGEELLRLAPSPHHSPQMMEDFVEKLLLAW
TAVGLPLQDVSVAACNFCRRPVHFELMSEWERSYFGNMGPQYVTTYA
Function This enzyme is an aminolevulinic acid synthase, and it catalyzes the first step in the heme biosynthetic pathway.
KEGG Pathway
Glycine, serine and threonine metabolism (hsa00260 )
Metabolic pathways (hsa01100 )
Porphyrin and chlorophyll metabolism (hsa00860 )
Reactome Pathway
Heme biosynthesis (R-HSA-189451 )

Molecular Interaction Atlas (MIA) of This DME

Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DME
1 Approved Drug(s) Metabolized by This DME
Drug Name Drug ID Indication ICD 11 Highest Status REF
Glycine DMIOZ29 Allergic rhinitis CA08.0 Approved [1]
Experimental Enzyme Kinetic Data of Drugs
Drug Name Indication Highest Status Kinetic Data REF
Glycine Allergic rhinitis [CA08.0] Approved Km = 12 microM [1]

Molecular Expression Atlas (MEA) of This DME

Molecular Expression Atlas (MEA) Jump to Detail Molecular Expression Atlas of This DME
Disease Name ICD 11 Studied Tissue p-value Fold-Change Z-score
Acute myelocytic leukaemia 2B33.1 Bone marrow 8.70E-30 -1.09E+00 -1.56E+00
Alopecia ED70 Skin from scalp 8.93E-01 -9.42E-03 -2.86E-02
Alzheimer's disease 8A20 Entorhinal cortex 7.52E-01 -7.88E-03 -5.02E-02
Ankylosing spondylitis FA92.0 Pheripheral blood 7.40E-01 -5.36E-02 -5.30E-01
Aortic stenosis BB70 Calcified aortic valve 3.70E-01 -1.25E-01 -2.08E-01
Apnea 7A40 Hyperplastic tonsil 8.35E-01 -2.75E-02 -2.97E-01
Arthropathy FA00-FA5Z Peripheral blood 1.51E-01 2.37E-01 8.23E-01
Asthma CA23 Nasal and bronchial airway 2.17E-01 -7.44E-03 -1.59E-02
Atopic dermatitis EA80 Skin 8.35E-02 -5.77E-02 -3.46E-01
Autism 6A02 Whole blood 1.13E-03 -3.99E-01 -1.28E+00
Autoimmune uveitis 9A96 Peripheral monocyte 4.25E-01 3.64E-02 2.47E-01
Autosomal dominant monocytopenia 4B04 Whole blood 1.64E-01 1.08E+00 1.35E+00
Bacterial infection of gingival 1C1H Gingival tissue 2.62E-06 1.45E-01 6.21E-01
Batten disease 5C56.1 Whole blood 7.43E-02 -5.51E-01 -1.10E+00
Behcet's disease 4A62 Peripheral blood 5.58E-01 8.01E-02 1.24E-01
Bipolar disorder 6A60-6A6Z Prefrontal cortex 7.34E-01 -6.14E-02 -4.56E-01
Bladder cancer 2C94 Bladder tissue 2.33E-04 1.61E-01 1.52E+00
Breast cancer 2C60-2C6Z Breast tissue 2.71E-05 -7.40E-02 -2.87E-01
Cardioembolic stroke 8B11.20 Whole blood 2.61E-01 -3.69E-01 -1.10E+00
Cervical cancer 2C77 Cervical tissue 3.05E-01 3.68E-02 1.39E-01
Childhood onset rheumatic disease FA20.Z Peripheral blood 1.74E-05 5.01E-01 1.15E+00
Chronic hepatitis C 1E51.1 Whole blood 5.76E-02 1.01E-01 8.19E-01
Chronic obstructive pulmonary disease CA22 Lung tissue 5.57E-04 1.14E-01 6.50E-01
Chronic obstructive pulmonary disease CA22 Small airway epithelium 1.01E-02 -1.75E-02 -2.70E-02
Chronic rhinosinusitis CA0A Sinus mucosa tissue 8.54E-01 -5.35E-03 -2.54E-02
Colon cancer 2B90 Colon tissue 7.54E-10 -1.21E-01 -6.45E-01
Coronary artery disease BA80-BA8Z Peripheral blood 5.23E-01 -1.55E-01 -6.92E-01
Diffuse large B-cell lymphoma 2A81 Tonsil tissue 6.83E-01 -4.94E-02 -3.18E-01
Endometriosis GA10 Endometrium tissue 2.66E-01 2.47E-02 1.14E-01
Familial hypercholesterolemia 5C80.00 Peripheral blood 8.77E-01 -4.34E-01 -8.04E-01
Familial hypercholesterolemia 5C80.00 Whole blood 8.80E-04 -1.34E+00 -1.22E+00
Gastric cancer 2B72 Gastric tissue 7.20E-01 -1.77E-01 -5.79E-01
Glioblastopma 2A00.00 Nervous tissue 5.80E-01 1.60E-02 6.16E-02
Glioma 2A00.0Y-2A00.0Z Brain stem tissue 5.97E-01 -3.54E-01 -5.69E-01
Glioma 2A00.0Y-2A00.0Z White matter tissue 2.98E-02 -1.55E-01 -7.23E-01
Head and neck cancer 2D42 Head and neck tissue 1.22E-04 -6.11E-02 -3.25E-01
HIV-associated neurocognitive impairment 8A2Y-8A2Z White matter tissue 7.25E-02 -6.19E-02 -1.90E-01
Huntington's disease 8A01.10 Whole blood 8.97E-01 8.79E-02 1.09E-01
Idiopathic pulmonary fibrosis CB03.4 Lung tissue 2.59E-01 4.77E-02 2.14E-01
Immunodeficiency 4A00-4A20 Peripheral blood 7.26E-01 -3.36E-03 -3.75E-02
Influenza 1E30 Whole blood 4.90E-02 2.86E-01 1.43E+00
Interstitial cystitis GC00.3 Bladder tissue 3.05E-02 1.75E-01 2.82E+00
Intracranial aneurysm 8B01.0 Intracranial artery 1.62E-02 -1.53E-01 -3.81E-01
Irritable bowel syndrome DD91.0 Rectal colon tissue 5.98E-03 6.09E-02 4.24E-01
Ischemic stroke 8B11 Peripheral blood 2.22E-01 4.84E-01 8.92E-01
Juvenile idiopathic arthritis FA24 Peripheral blood 7.66E-01 -2.30E-01 -1.62E-01
Lateral sclerosis 8B60.4 Skin 3.31E-01 2.91E-03 3.41E-02
Lateral sclerosis 8B60.4 Cervical spinal cord 1.86E-01 7.69E-02 6.01E-01
Liver cancer 2C12.0 Liver tissue 1.12E-03 -1.62E-01 -7.24E-01
Liver failure DB99.7-DB99.8 Liver tissue 9.22E-01 -4.52E-03 -3.31E-02
Lung cancer 2C25 Lung tissue 2.01E-03 -1.43E-02 -4.22E-02
Lupus erythematosus 4A40 Whole blood 1.11E-02 -1.54E-01 -1.42E-01
Major depressive disorder 6A70-6A7Z Hippocampus 3.02E-01 6.95E-02 5.76E-01
Major depressive disorder 6A70-6A7Z Whole blood 1.60E-02 8.35E-02 1.74E-01
Melanoma 2C30 Skin 4.28E-01 -8.57E-02 -2.55E-01
Multiple myeloma 2A83.1 Peripheral blood 6.35E-01 -3.18E-02 -3.01E-01
Multiple myeloma 2A83.1 Bone marrow 1.64E-02 1.42E-01 6.86E-01
Multiple sclerosis 8A40 Plasmacytoid dendritic cells 9.19E-01 7.17E-02 3.12E-01
Myelodysplastic syndrome 2A36-2A3Z Bone marrow 4.11E-02 3.33E-01 3.95E-01
Myelofibrosis 2A20.2 Whole blood 1.01E-02 1.12E+00 2.22E+00
Myocardial infarction BA41-BA50 Peripheral blood 2.82E-01 4.47E-01 3.14E-01
Myopathy 8C70.6 Muscle tissue 5.36E-01 -3.49E-02 -9.93E-02
Neonatal sepsis KA60 Whole blood 1.20E-01 -1.47E-01 -1.67E-01
Neuroectodermal tumour 2A00.11 Brain stem tissue 1.33E-02 -2.24E-01 -1.13E+00
Non-alcoholic fatty liver disease DB92 Liver tissue 6.26E-01 5.74E-03 4.41E-02
Obesity related type 2 diabetes 5A11 Omental adipose tissue 5.39E-01 -2.28E-03 -2.29E-02
Olive pollen allergy CA08.00 Peripheral blood 7.01E-02 1.13E-01 1.38E+00
Oral cancer 2B6E Oral tissue 1.05E-01 -1.20E-01 -4.16E-01
Osteoarthritis FA00-FA0Z Synovial tissue 7.88E-01 -4.90E-02 -1.66E-01
Osteoporosis FB83.1 Bone marrow 1.12E-02 2.50E-01 2.60E+00
Ovarian cancer 2C73 Ovarian tissue 3.46E-01 -6.49E-02 -3.82E-01
Pancreatic cancer 2C10 Pancreas 2.73E-02 -1.73E-01 -6.37E-01
Parkinson's disease 8A00.0 Substantia nigra tissue 9.17E-01 1.28E-01 4.32E-01
Pediatric respiratory syncytial virus infection CA40.11 Peripheral blood 1.90E-05 1.29E+00 1.69E+00
Pituitary cancer 2D12 Pituitary tissue 4.42E-01 -2.26E-02 -6.76E-02
Pituitary gonadotrope tumour 2D12 Pituitary tissue 2.32E-01 -1.11E-03 -2.91E-03
Polycystic ovary syndrome 5A80.1 Vastus lateralis muscle 6.84E-01 3.67E-02 2.62E-01
Polycythemia vera 2A20.4 Whole blood 1.13E-10 8.69E-01 1.75E+00
Pompe disease 5C51.3 Biceps muscle 1.82E-01 -4.50E-02 -4.05E-01
Preterm birth KA21.4Z Myometrium 2.59E-01 3.02E-01 5.15E-01
Prostate cancer 2C82 Prostate 1.45E-06 -6.40E-01 -2.03E+00
Psoriasis EA90 Skin 1.36E-04 -8.35E-02 -3.32E-01
Rectal cancer 2B92 Rectal colon tissue 4.59E-02 -2.23E-01 -1.37E+00
Renal cancer 2C90-2C91 Kidney 4.08E-02 -2.37E-01 -4.58E-01
Retinoblastoma 2D02.2 Uvea 5.00E-02 -1.17E-01 -9.86E-01
Rheumatoid arthritis FA20 Synovial tissue 3.43E-02 -4.23E-01 -1.10E+00
Rhinovirus infection CA42.1 Nasal epithelium tissue 7.48E-01 1.37E-03 1.20E-02
Schizophrenia 6A20 Prefrontal cortex 2.34E-03 7.52E-02 2.81E-01
Schizophrenia 6A20 Superior temporal cortex 5.78E-01 -4.09E-02 -2.83E-01
Scleroderma 4A42.Z Whole blood 1.25E-02 -1.02E-01 -3.99E-01
Seizure 8A60-8A6Z Whole blood 4.95E-02 -3.29E-01 -5.29E-01
Sensitive skin EK0Z Skin 3.42E-01 6.62E-02 5.57E-01
Sepsis with septic shock 1G41 Whole blood 1.67E-03 -1.47E-01 -3.43E-01
Shwachman-Diamond syndrome 3A70.0 Bone marrow 1.67E-03 1.22E+00 2.50E+00
Sickle cell disease 3A51.0-3A51.3 Peripheral blood 1.50E-04 5.72E-01 3.41E+00
Simpson golabi behmel syndrome LD2C Adipose tissue 2.26E-01 4.70E-02 1.88E+00
Sjogren's syndrome 4A43.2 Salivary gland tissue 3.47E-01 -1.78E-01 -6.14E-01
Skin cancer 2C30-2C3Z Skin 4.03E-08 -1.12E-01 -2.95E-01
Thrombocythemia 3B63 Whole blood 3.14E-03 5.41E-01 1.10E+00
Thrombocytopenia 3B64 Whole blood 8.11E-01 -2.28E-01 -5.81E-01
Thyroid cancer 2D10 Thyroid 1.29E-01 4.81E-02 1.95E-01
Tibial muscular dystrophy 8C75 Muscle tissue 2.31E-06 -3.20E-01 -1.89E+00
Tuberous sclerosis complex LD2D.2 Perituberal tissue 2.58E-03 2.76E-01 2.72E+00
Type 2 diabetes 5A11 Liver tissue 2.07E-01 -1.28E-01 -6.62E-01
Ureter cancer 2C92 Urothelium 2.74E-01 3.71E-02 1.29E-01
Uterine cancer 2C78 Endometrium tissue 6.67E-01 -2.11E-03 -6.26E-03
Vitiligo ED63.0 Skin 7.27E-02 1.99E-01 1.03E+00
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⏷ Show the Full List of DME Expression Under 107 Diseases

References

1 Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria. Mol Med. 2013 Mar 5;19:18-25.