Details of Drug-Metabolizing Enzyme (DME)

General Information of Drug-Metabolizing Enzyme (DME) (ID: DE3FYEM)

DME Name Calcidiol 1-monooxygenase (CYP27B1)
Synonyms
Cytochrome P450 subfamily XXVIIB polypeptide 1; VD3 1A hydroxylase; Cytochrome P450C1 alpha; Cytochrome P450VD1-alpha; Cytochrome p450 27B1; 25-OHD-1 alpha-hydroxylase; 25-hydroxyvitamin D(3) 1-alpha-hydroxylase; Mitochondrial 25-hydroxyvitamin D-1 alpha hydroxylase; CYP1ALPHA; CYP27B; CYP27B1
Gene Name CYP27B1
UniProt ID
CP27B_HUMAN
INTEDE ID
DME0046
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Gene ID
1594
EC Number EC: 1.14.15.18
Oxidoreductase
Oxygen paired donor oxidoreductase
Iron-sulfur protein donor oxidoreductase
EC: 1.14.15.18
Lineage Species: Homo sapiens
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
Sequence
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSR
LHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCR
QRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPP
ALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPH
WLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFRE
ELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPS
ATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPA
QFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQP
EPGAAPVRPKTRTVLVPERSINLQFLDR
Function
This enzyme is involved in vitamin D metabolism. It catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha- position to form the hormonally active form of vitamin D3, 1alpha,25- dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor (VDR). It has 1alpha-hydroxylase activity on vitamin D intermediates of the CYP24A1-mediated inactivation pathway and converts 24R,25-dihydroxyvitamin D3/secalciferol to 1-alpha,24,25-trihydroxyvitamin D3 and also active on 25-hydroxyvitamin D2.
KEGG Pathway
Metabolic pathways (hsa01100 )
Parathyroid hormone synthesis, secretion and action (hsa04928 )
Steroid biosynthesis (hsa00100 )
Tuberculosis (hsa05152 )
Reactome Pathway
Vitamin D (calciferol) metabolism (R-HSA-196791 )
Vitamins (R-HSA-211916 )
Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) (R-HSA-5579014 )

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
Calcidiol DMN4CV5 Hypophosphatemia Approved [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 1.08E-28 2.68E-01 1.22E+00
Alopecia ED70 Skin from scalp 9.67E-06 -5.46E-01 -9.39E-01
Alzheimer's disease 8A20 Entorhinal cortex 1.57E-01 -3.94E-02 -2.13E-01
Ankylosing spondylitis FA92.0 Pheripheral blood 1.30E-01 -5.01E-01 -6.40E-01
Aortic stenosis BB70 Calcified aortic valve 3.18E-01 1.83E-01 2.96E-01
Apnea 7A40 Hyperplastic tonsil 4.79E-01 -2.17E-01 -3.99E-01
Arthropathy FA00-FA5Z Peripheral blood 3.98E-01 6.50E-02 3.59E-01
Asthma CA23 Nasal and bronchial airway 9.73E-06 2.25E-01 3.23E-01
Atopic dermatitis EA80 Skin 7.55E-09 5.85E-01 1.61E+00
Autism 6A02 Whole blood 2.67E-01 -8.10E-02 -3.75E-01
Autoimmune uveitis 9A96 Peripheral monocyte 2.59E-01 -1.06E-01 -6.80E-01
Autosomal dominant monocytopenia 4B04 Whole blood 2.80E-01 7.59E-02 6.46E-01
Bacterial infection of gingival 1C1H Gingival tissue 6.72E-02 1.95E-01 5.31E-01
Batten disease 5C56.1 Whole blood 9.57E-01 5.35E-02 3.42E-01
Behcet's disease 4A62 Peripheral blood 8.10E-01 -3.48E-02 -1.33E-01
Bipolar disorder 6A60-6A6Z Prefrontal cortex 1.06E-01 -1.03E-01 -6.47E-01
Bladder cancer 2C94 Bladder tissue 2.77E-10 1.70E+00 6.98E+00
Breast cancer 2C60-2C6Z Breast tissue 1.39E-25 2.49E-01 4.70E-01
Cardioembolic stroke 8B11.20 Whole blood 4.45E-01 3.87E-02 9.26E-02
Cervical cancer 2C77 Cervical tissue 1.20E-06 4.45E-01 1.51E+00
Childhood onset rheumatic disease FA20.Z Peripheral blood 7.97E-01 -1.33E-02 -1.04E-01
Chronic hepatitis C 1E51.1 Whole blood 7.52E-01 -1.79E-02 -6.45E-02
Chronic obstructive pulmonary disease CA22 Lung tissue 8.15E-02 1.42E-01 3.50E-01
Chronic obstructive pulmonary disease CA22 Small airway epithelium 7.02E-01 -2.06E-02 -9.39E-02
Chronic rhinosinusitis CA0A Sinus mucosa tissue 1.19E-01 9.73E-02 8.52E-01
Colon cancer 2B90 Colon tissue 1.83E-86 8.07E-01 2.55E+00
Coronary artery disease BA80-BA8Z Peripheral blood 8.98E-02 7.84E-02 6.67E-01
Diffuse large B-cell lymphoma 2A81 Tonsil tissue 6.98E-01 2.77E-02 4.68E-02
Endometriosis GA10 Endometrium tissue 7.72E-01 5.68E-02 7.11E-02
Familial hypercholesterolemia 5C80.00 Peripheral blood 9.48E-01 7.54E-02 4.03E-01
Familial hypercholesterolemia 5C80.00 Whole blood 1.87E-03 -4.28E-01 -1.26E+00
Gastric cancer 2B72 Gastric tissue 5.94E-02 3.32E-01 1.57E+00
Glioblastopma 2A00.00 Nervous tissue 8.42E-37 2.67E-01 7.74E-01
Glioma 2A00.0Y-2A00.0Z Brain stem tissue 1.16E-01 1.19E-01 1.54E+00
Glioma 2A00.0Y-2A00.0Z White matter tissue 7.77E-07 1.68E+00 2.33E+00
Head and neck cancer 2D42 Head and neck tissue 2.01E-43 1.32E+00 5.01E+00
HIV-associated neurocognitive impairment 8A2Y-8A2Z White matter tissue 1.47E-01 -3.73E-02 -1.77E-01
Huntington's disease 8A01.10 Whole blood 5.10E-01 4.31E-02 3.57E-01
Idiopathic pulmonary fibrosis CB03.4 Lung tissue 8.81E-01 1.61E-02 6.26E-02
Immunodeficiency 4A00-4A20 Peripheral blood 4.92E-01 -5.23E-02 -4.56E-01
Influenza 1E30 Whole blood 7.61E-02 -2.30E+00 -2.25E+00
Interstitial cystitis GC00.3 Bladder tissue 8.48E-02 1.49E-01 1.59E+00
Intracranial aneurysm 8B01.0 Intracranial artery 6.77E-03 6.01E-01 1.08E+00
Irritable bowel syndrome DD91.0 Rectal colon tissue 1.05E-03 1.75E-01 4.57E-01
Ischemic stroke 8B11 Peripheral blood 1.63E-01 8.20E-02 3.12E-01
Juvenile idiopathic arthritis FA24 Peripheral blood 4.38E-01 1.92E-02 4.72E-02
Lateral sclerosis 8B60.4 Skin 1.19E-01 7.63E-02 5.17E-01
Lateral sclerosis 8B60.4 Cervical spinal cord 5.43E-01 7.34E-02 3.28E-01
Liver cancer 2C12.0 Liver tissue 6.10E-06 1.08E-01 3.52E-01
Liver failure DB99.7-DB99.8 Liver tissue 2.54E-01 1.69E-01 8.02E-01
Lung cancer 2C25 Lung tissue 8.48E-88 1.10E+00 2.28E+00
Lupus erythematosus 4A40 Whole blood 1.43E-03 -2.29E-01 -4.02E-01
Major depressive disorder 6A70-6A7Z Hippocampus 4.45E-01 -7.39E-02 -4.36E-01
Major depressive disorder 6A70-6A7Z Whole blood 9.18E-01 -5.12E-02 -1.50E-01
Melanoma 2C30 Skin 1.89E-01 2.94E-01 2.61E-01
Multiple myeloma 2A83.1 Peripheral blood 5.78E-02 9.32E-02 3.37E-01
Multiple myeloma 2A83.1 Bone marrow 4.28E-03 1.81E-01 1.01E+00
Multiple sclerosis 8A40 Plasmacytoid dendritic cells 8.13E-01 3.88E-02 1.09E-01
Myelodysplastic syndrome 2A36-2A3Z Bone marrow 6.75E-01 3.81E-02 7.59E-02
Myelofibrosis 2A20.2 Whole blood 1.21E-01 6.20E-02 3.88E-01
Myocardial infarction BA41-BA50 Peripheral blood 4.33E-01 1.78E-01 2.11E-01
Myopathy 8C70.6 Muscle tissue 9.16E-01 -4.89E-02 -3.32E-01
Neonatal sepsis KA60 Whole blood 3.64E-02 -9.13E-02 -4.18E-01
Neuroectodermal tumour 2A00.11 Brain stem tissue 1.94E-03 -6.47E-01 -1.41E+00
Non-alcoholic fatty liver disease DB92 Liver tissue 1.24E-01 1.57E-01 1.20E+00
Obesity related type 2 diabetes 5A11 Omental adipose tissue 9.12E-01 -1.41E-01 -2.10E-01
Olive pollen allergy CA08.00 Peripheral blood 8.99E-02 -1.53E+00 -1.73E+00
Oral cancer 2B6E Oral tissue 4.30E-19 1.80E+00 3.49E+00
Osteoarthritis FA00-FA0Z Synovial tissue 1.20E-01 4.57E-01 1.22E+00
Osteoporosis FB83.1 Bone marrow 5.74E-01 2.85E-01 6.30E-01
Ovarian cancer 2C73 Ovarian tissue 2.09E-02 6.81E-02 2.37E-01
Pancreatic cancer 2C10 Pancreas 1.40E-02 -7.45E-01 -1.19E+00
Parkinson's disease 8A00.0 Substantia nigra tissue 5.05E-02 4.64E-02 3.16E-01
Pediatric respiratory syncytial virus infection CA40.11 Peripheral blood 7.65E-01 2.41E-02 1.41E-01
Pituitary cancer 2D12 Pituitary tissue 5.70E-01 -2.32E-02 -4.53E-02
Pituitary gonadotrope tumour 2D12 Pituitary tissue 7.52E-01 1.24E-01 2.06E-01
Polycystic ovary syndrome 5A80.1 Vastus lateralis muscle 9.57E-01 4.71E-02 2.09E-01
Polycythemia vera 2A20.4 Whole blood 4.42E-06 1.42E-01 8.23E-01
Pompe disease 5C51.3 Biceps muscle 2.75E-02 -1.49E-01 -6.18E-01
Preterm birth KA21.4Z Myometrium 1.62E-01 -2.39E-01 -1.93E-01
Prostate cancer 2C82 Prostate 8.48E-02 -6.84E-01 -9.36E-01
Psoriasis EA90 Skin 4.57E-12 6.11E-01 9.76E-01
Rectal cancer 2B92 Rectal colon tissue 6.55E-03 4.75E-01 1.73E+00
Renal cancer 2C90-2C91 Kidney 2.93E-02 -1.75E+00 -9.36E-01
Retinoblastoma 2D02.2 Uvea 6.76E-06 -1.58E+00 -2.14E+00
Rheumatoid arthritis FA20 Synovial tissue 9.78E-06 9.57E-01 4.07E+00
Rhinovirus infection CA42.1 Nasal epithelium tissue 7.67E-03 5.17E-02 3.15E-01
Schizophrenia 6A20 Prefrontal cortex 9.14E-01 -2.65E-02 -6.31E-02
Schizophrenia 6A20 Superior temporal cortex 5.58E-01 -1.58E-02 -9.56E-02
Scleroderma 4A42.Z Whole blood 2.84E-05 3.21E-01 2.56E+00
Seizure 8A60-8A6Z Whole blood 8.62E-01 2.21E-02 1.09E-01
Sensitive skin EK0Z Skin 9.45E-01 3.40E-02 9.71E-02
Sepsis with septic shock 1G41 Whole blood 5.04E-01 2.66E-03 1.25E-02
Shwachman-Diamond syndrome 3A70.0 Bone marrow 3.44E-01 4.96E-01 7.78E-01
Sickle cell disease 3A51.0-3A51.3 Peripheral blood 5.61E-01 -3.13E-02 -2.00E-01
Simpson golabi behmel syndrome LD2C Adipose tissue 1.84E-02 2.89E-01 2.50E+00
Sjogren's syndrome 4A43.2 Salivary gland tissue 7.71E-01 1.19E-02 1.41E-01
Skin cancer 2C30-2C3Z Skin 1.43E-25 7.66E-01 1.13E+00
Thrombocythemia 3B63 Whole blood 1.49E-03 1.84E-01 1.03E+00
Thrombocytopenia 3B64 Whole blood 1.32E-01 7.44E-01 1.80E+00
Thyroid cancer 2D10 Thyroid 5.63E-10 -7.59E-01 -8.38E-01
Tibial muscular dystrophy 8C75 Muscle tissue 6.00E-01 1.27E-04 7.66E-04
Tuberous sclerosis complex LD2D.2 Perituberal tissue 5.90E-03 3.62E-01 2.80E+00
Type 2 diabetes 5A11 Liver tissue 5.90E-01 6.18E-02 1.85E-01
Ureter cancer 2C92 Urothelium 2.27E-01 -9.77E-02 -3.80E-01
Uterine cancer 2C78 Endometrium tissue 3.05E-03 5.25E-02 9.69E-02
Vitiligo ED63.0 Skin 1.44E-02 5.54E-01 1.41E+00
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References

1 Cytochromes P450 are essential players in the vitamin D signaling system. Biochim Biophys Acta. 2011 Jan;1814(1):186-99.