Details of Drug-Metabolizing Enzyme (DME)

General Information of Drug-Metabolizing Enzyme (DME) (ID: DEYLWI6)

DME Name Serine sulfhydrase (CBS)
Synonyms Cystathionine beta-synthase; Cytosolic serine acetyltransferase; Beta-thionase; CBS
Gene Name CBS
UniProt ID
CBS_HUMAN
INTEDE ID
DME0410
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Gene ID
875
EC Number EC: 4.2.1.22
Lyases
Carbon-oxygen lyase
Hydro-lyase
EC: 4.2.1.22
Lineage Species: Homo sapiens
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
Sequence
MPSETPQAEVGPTGCPHRSGPHSAKGSLEKGSPEDKEAKEPLWIRPDAPSRCTWQLGRPA
SESPHHHTAPAKSPKILPDILKKIGDTPMVRINKIGKKFGLKCELLAKCEFFNAGGSVKD
RISLRMIEDAERDGTLKPGDTIIEPTSGNTGIGLALAAAVRGYRCIIVMPEKMSSEKVDV
LRALGAEIVRTPTNARFDSPESHVGVAWRLKNEIPNSHILDQYRNASNPLAHYDTTADEI
LQQCDGKLDMLVASVGTGGTITGIARKLKEKCPGCRIIGVDPEGSILAEPEELNQTEQTT
YEVEGIGYDFIPTVLDRTVVDKWFKSNDEEAFTFARMLIAQEGLLCGGSAGSTVAVAVKA
AQELQEGQRCVVILPDSVRNYMTKFLSDRWMLQKGFLKEEDLTEKKPWWWHLRVQELGLS
APLTVLPTITCGHTIEILREKGFDQAPVVDEAGVILGMVTLGNMLSSLLAGKVQPSDQVG
KVIYKQFKQIRLTDTLGRLSHILEMDHFALVVHEQIQYHSTGKSSQRQMVFGVVTAIDLL
NFVAAQERDQK
Function
This enzyme catalyzes the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine.
KEGG Pathway
Biosynthesis of amino acids (hsa01230 )
Cysteine and methionine metabolism (hsa00270 )
Glycine, serine and threonine metabolism (hsa00260 )
Metabolic pathways (hsa01100 )
Reactome Pathway
Metabolism of ingested SeMet, Sec, MeSec into H2Se (R-HSA-2408508 )
Cysteine formation from homocysteine (R-HSA-1614603 )

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
Arsenic DMTL2Y1 N. A. N. A. Approved [4]

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 5.13E-04 -1.20E-01 -4.31E-01
Alopecia ED70 Skin from scalp 1.49E-04 -3.87E-01 -6.79E-01
Alzheimer's disease 8A20 Entorhinal cortex 3.73E-13 4.80E-01 9.48E-01
Ankylosing spondylitis FA92.0 Pheripheral blood 4.18E-01 3.43E-01 7.00E-01
Aortic stenosis BB70 Calcified aortic valve 4.38E-02 -4.46E-01 -7.99E-01
Apnea 7A40 Hyperplastic tonsil 2.31E-01 -3.92E-02 -1.01E-01
Arthropathy FA00-FA5Z Peripheral blood 3.44E-01 5.86E-02 2.21E-01
Asthma CA23 Nasal and bronchial airway 8.93E-02 7.29E-03 2.21E-02
Atopic dermatitis EA80 Skin 8.68E-03 -1.62E-01 -8.80E-01
Autism 6A02 Whole blood 8.56E-02 1.24E-01 4.04E-01
Autoimmune uveitis 9A96 Peripheral monocyte 3.47E-01 1.23E-01 8.00E-01
Autosomal dominant monocytopenia 4B04 Whole blood 2.65E-01 -2.92E-01 -5.93E-01
Bacterial infection of gingival 1C1H Gingival tissue 3.19E-12 3.27E-01 1.09E+00
Batten disease 5C56.1 Whole blood 7.49E-01 3.83E-02 3.34E-01
Behcet's disease 4A62 Peripheral blood 7.14E-01 8.38E-02 3.24E-01
Bipolar disorder 6A60-6A6Z Prefrontal cortex 1.51E-01 7.29E-02 2.64E-01
Bladder cancer 2C94 Bladder tissue 1.08E-02 2.96E-01 1.29E+00
Breast cancer 2C60-2C6Z Breast tissue 2.07E-51 2.46E-01 7.92E-01
Cardioembolic stroke 8B11.20 Whole blood 2.18E-02 7.85E-01 6.91E-01
Cervical cancer 2C77 Cervical tissue 3.02E-05 3.21E-01 1.01E+00
Childhood onset rheumatic disease FA20.Z Peripheral blood 7.56E-01 -1.46E-01 -1.66E-01
Chronic hepatitis C 1E51.1 Whole blood 4.51E-01 3.38E-02 1.42E-01
Chronic obstructive pulmonary disease CA22 Lung tissue 4.11E-01 -3.24E-02 -1.15E-01
Chronic obstructive pulmonary disease CA22 Small airway epithelium 5.66E-04 1.79E-01 6.53E-01
Chronic rhinosinusitis CA0A Sinus mucosa tissue 1.23E-01 1.49E-01 6.16E-01
Colon cancer 2B90 Colon tissue 4.09E-05 -2.42E-01 -4.32E-01
Coronary artery disease BA80-BA8Z Peripheral blood 6.83E-01 -6.50E-02 -1.70E-01
Diffuse large B-cell lymphoma 2A81 Tonsil tissue 2.74E-01 2.78E-01 4.59E-01
Endometriosis GA10 Endometrium tissue 8.27E-01 1.49E-01 1.90E-01
Familial hypercholesterolemia 5C80.00 Peripheral blood 9.16E-01 -7.45E-02 -4.86E-01
Familial hypercholesterolemia 5C80.00 Whole blood 2.97E-03 -5.68E-01 -1.51E+00
Gastric cancer 2B72 Gastric tissue 9.20E-02 -7.56E-01 -2.01E+00
Glioblastopma 2A00.00 Nervous tissue 8.74E-03 2.31E-01 3.88E-01
Glioma 2A00.0Y-2A00.0Z Brain stem tissue 1.29E-01 5.78E-01 2.50E+00
Glioma 2A00.0Y-2A00.0Z White matter tissue 1.83E-01 2.01E-01 7.32E-01
Head and neck cancer 2D42 Head and neck tissue 2.19E-15 5.95E-01 1.39E+00
HIV-associated neurocognitive impairment 8A2Y-8A2Z White matter tissue 3.41E-02 1.95E-01 5.30E-01
Huntington's disease 8A01.10 Whole blood 7.29E-01 -2.44E-02 -1.40E-01
Idiopathic pulmonary fibrosis CB03.4 Lung tissue 1.74E-02 -1.47E+00 -1.94E+00
Immunodeficiency 4A00-4A20 Peripheral blood 2.89E-01 2.37E-03 2.66E-02
Influenza 1E30 Whole blood 7.60E-02 2.61E-01 1.38E+00
Interstitial cystitis GC00.3 Bladder tissue 2.87E-02 -2.15E-01 -1.13E+00
Intracranial aneurysm 8B01.0 Intracranial artery 2.61E-01 2.94E-01 3.74E-01
Irritable bowel syndrome DD91.0 Rectal colon tissue 5.09E-01 1.33E-01 3.06E-01
Ischemic stroke 8B11 Peripheral blood 9.30E-01 2.88E-02 1.31E-01
Juvenile idiopathic arthritis FA24 Peripheral blood 3.79E-02 6.87E-02 1.84E-01
Lateral sclerosis 8B60.4 Skin 2.14E-01 -2.55E-01 -5.87E-01
Lateral sclerosis 8B60.4 Cervical spinal cord 7.98E-01 -7.42E-03 -2.53E-02
Liver cancer 2C12.0 Liver tissue 4.44E-25 -1.62E+00 -2.54E+00
Liver failure DB99.7-DB99.8 Liver tissue 6.68E-05 -2.34E+00 -5.34E+00
Lung cancer 2C25 Lung tissue 1.62E-09 1.37E-01 2.72E-01
Lupus erythematosus 4A40 Whole blood 2.83E-04 9.87E-02 2.44E-01
Major depressive disorder 6A70-6A7Z Hippocampus 3.44E-02 -1.72E-01 -6.16E-01
Major depressive disorder 6A70-6A7Z Whole blood 4.44E-02 4.47E-01 6.01E-01
Melanoma 2C30 Skin 5.27E-01 1.44E-01 1.65E-01
Multiple myeloma 2A83.1 Peripheral blood 6.39E-01 3.69E-02 1.32E-01
Multiple myeloma 2A83.1 Bone marrow 2.43E-01 1.70E-02 6.71E-02
Multiple sclerosis 8A40 Plasmacytoid dendritic cells 8.72E-01 -8.85E-02 -2.73E-01
Myelodysplastic syndrome 2A36-2A3Z Bone marrow 6.71E-03 5.33E-02 3.03E-01
Myelofibrosis 2A20.2 Whole blood 8.86E-02 2.35E-01 8.37E-01
Myocardial infarction BA41-BA50 Peripheral blood 4.01E-02 2.05E-01 4.76E-01
Myopathy 8C70.6 Muscle tissue 4.42E-02 9.65E-03 1.08E-01
Neonatal sepsis KA60 Whole blood 1.99E-11 3.21E-01 1.12E+00
Neuroectodermal tumour 2A00.11 Brain stem tissue 1.67E-04 -5.16E-01 -1.55E+00
Non-alcoholic fatty liver disease DB92 Liver tissue 1.63E-01 -2.07E-01 -4.70E-01
Obesity related type 2 diabetes 5A11 Omental adipose tissue 1.64E-01 1.81E-01 6.74E-01
Olive pollen allergy CA08.00 Peripheral blood 1.19E-01 1.89E-01 1.15E+00
Oral cancer 2B6E Oral tissue 2.49E-01 -9.64E-02 -1.61E-01
Osteoarthritis FA00-FA0Z Synovial tissue 6.06E-01 -7.11E-01 -8.79E-01
Osteoporosis FB83.1 Bone marrow 9.47E-03 1.11E+00 2.39E+00
Ovarian cancer 2C73 Ovarian tissue 7.97E-02 3.69E-01 5.13E-01
Pancreatic cancer 2C10 Pancreas 1.70E-03 -1.85E+00 -1.44E+00
Parkinson's disease 8A00.0 Substantia nigra tissue 5.91E-03 3.79E-01 1.69E+00
Pediatric respiratory syncytial virus infection CA40.11 Peripheral blood 2.02E-04 1.94E-01 1.54E+00
Pituitary cancer 2D12 Pituitary tissue 1.01E-03 -1.11E+00 -1.42E+00
Pituitary gonadotrope tumour 2D12 Pituitary tissue 7.39E-05 -1.55E+00 -2.04E+00
Polycystic ovary syndrome 5A80.1 Vastus lateralis muscle 7.48E-01 4.34E-02 2.10E-01
Polycythemia vera 2A20.4 Whole blood 6.36E-08 4.44E-01 1.59E+00
Pompe disease 5C51.3 Biceps muscle 4.69E-01 1.37E-01 7.64E-01
Preterm birth KA21.4Z Myometrium 4.46E-01 -7.33E-02 -3.43E-01
Prostate cancer 2C82 Prostate 8.09E-04 9.45E-01 1.08E+00
Psoriasis EA90 Skin 7.40E-11 -3.58E-01 -8.84E-01
Rectal cancer 2B92 Rectal colon tissue 1.38E-01 9.97E-02 4.45E-01
Renal cancer 2C90-2C91 Kidney 4.99E-03 -5.03E-01 -1.71E+00
Retinoblastoma 2D02.2 Uvea 1.50E-03 8.74E-01 3.51E+00
Rheumatoid arthritis FA20 Synovial tissue 2.30E-01 -3.00E-01 -7.76E-01
Rhinovirus infection CA42.1 Nasal epithelium tissue 8.58E-01 9.13E-02 3.09E-01
Schizophrenia 6A20 Prefrontal cortex 4.15E-01 -6.74E-02 -7.67E-02
Schizophrenia 6A20 Superior temporal cortex 5.39E-01 -1.85E-02 -5.94E-02
Scleroderma 4A42.Z Whole blood 5.90E-02 -7.18E-02 -3.21E-01
Seizure 8A60-8A6Z Whole blood 7.61E-01 1.13E-01 4.81E-01
Sensitive skin EK0Z Skin 4.67E-01 -1.08E-01 -8.82E-01
Sepsis with septic shock 1G41 Whole blood 6.59E-30 3.67E-01 1.05E+00
Shwachman-Diamond syndrome 3A70.0 Bone marrow 8.06E-01 -1.19E-01 -3.96E-01
Sickle cell disease 3A51.0-3A51.3 Peripheral blood 4.45E-02 2.03E-01 1.48E+00
Simpson golabi behmel syndrome LD2C Adipose tissue 6.55E-02 2.77E-01 2.66E+00
Sjogren's syndrome 4A43.2 Salivary gland tissue 3.29E-02 3.69E-01 2.84E+00
Skin cancer 2C30-2C3Z Skin 5.69E-04 -3.19E-02 -7.19E-02
Thrombocythemia 3B63 Whole blood 7.40E-01 4.85E-02 1.82E-01
Thrombocytopenia 3B64 Whole blood 6.01E-01 -7.80E-03 -3.08E-02
Thyroid cancer 2D10 Thyroid 5.21E-14 -8.64E-01 -1.18E+00
Tibial muscular dystrophy 8C75 Muscle tissue 7.70E-01 -8.72E-02 -3.69E-01
Tuberous sclerosis complex LD2D.2 Perituberal tissue 1.63E-01 5.02E-01 1.17E+00
Type 2 diabetes 5A11 Liver tissue 3.89E-01 -2.86E-01 -7.49E-01
Ureter cancer 2C92 Urothelium 1.60E-01 3.02E-02 2.03E-01
Uterine cancer 2C78 Endometrium tissue 9.26E-17 4.83E-01 9.53E-01
Vitiligo ED63.0 Skin 6.12E-02 -2.52E-01 -7.18E-01
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⏷ Show the Full List of DME Expression Under 107 Diseases

The Drug Therapeutic Target (DTT) Role of This DME

DME DTT Name Cystathionine beta-synthase (CBS) DTT Info
DME DTT Type Clinical trial
1 Clinical Trial Drug(s) Targeting This DTT
Drug Name Drug ID Indication ICD 11 Highest Status REF
OT-58 DMWCJ1F Homocystinuria 5C50.B Phase 1/2 [1]
2 Investigative Drug(s) Targeting This DTT
Drug Name Drug ID Indication ICD 11 Highest Status REF
aminooxyacetic acid DMHNDTW Discovery agent N.A. Investigative [2]
Heme DMGC287 Discovery agent N.A. Investigative [3]

References

1 Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies. Biochimie. 2020 Jun;173:48-56.
2 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 1443).
3 The Protein Data Bank. Nucleic Acids Res. 2000 Jan 1;28(1):235-42.
4 Association of genetic variation in cystathionine-beta-synthase and arsenic metabolism. Environ Res. 2010 Aug;110(6):580-7.