Details of Drug-Metabolizing Enzyme (DME)

General Information of Drug-Metabolizing Enzyme (DME) (ID: DEBIHM3)

DME Name Vitamin D 25-hydroxylase (CYP2R1)
Synonyms Cytochrome P450 family 2 subfamily R member 1; Cytochrome P450 2R1; CYP2R1
Gene Name CYP2R1
UniProt ID
CP2R1_HUMAN
INTEDE ID
DME0100
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Gene ID
120227
EC Number EC: 1.14.14.24
Oxidoreductase
Oxygen paired donor oxidoreductase
Flavin/flavoprotein donor oxidoreductase
EC: 1.14.14.24
Lineage Species: Homo sapiens
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
Sequence
MWKLWRAEEGAAALGGALFLLLFALGVRQLLKQRRPMGFPPGPPGLPFIGNIYSLAASSE
LPHVYMRKQSQVYGEIFSLDLGGISTVVLNGYDVVKECLVHQSEIFADRPCLPLFMKMTK
MGGLLNSRYGRGWVDHRRLAVNSFRYFGYGQKSFESKILEETKFFNDAIETYKGRPFDFK
QLITNAVSNITNLIIFGERFTYEDTDFQHMIELFSENVELAASASVFLYNAFPWIGILPF
GKHQQLFRNAAVVYDFLSRLIEKASVNRKPQLPQHFVDAYLDEMDQGKNDPSSTFSKENL
IFSVGELIIAGTETTTNVLRWAILFMALYPNIQGQVQKEIDLIMGPNGKPSWDDKCKMPY
TEAVLHEVLRFCNIVPLGIFHATSEDAVVRGYSIPKGTTVITNLYSVHFDEKYWRDPEVF
HPERFLDSSGYFAKKEALVPFSLGRRHCLGEHLARMEMFLFFTALLQRFHLHFPHELVPD
LKPRLGMTLQPQPYLICAERR
Function This enzyme has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).
KEGG Pathway
Metabolic pathways (hsa01100 )
Steroid biosynthesis (hsa00100 )
Reactome Pathway
Vitamin D (calciferol) metabolism (R-HSA-196791 )
Vitamins (R-HSA-211916 )
Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) (R-HSA-5579027 )

Molecular Interaction Atlas (MIA) of This DME

Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DME
2 Approved Drug(s) Metabolized by This DME
Drug Name Drug ID Indication ICD 11 Highest Status REF
Ergocalciferol DMHO0AR Hypoparathyroidism 5A50 Approved [1]
Vitamin D DMWQUC9 N. A. N. A. Approved [2]

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 6.11E-08 9.96E-02 4.58E-01
Alopecia ED70 Skin from scalp 1.38E-08 2.69E-01 1.19E+00
Alzheimer's disease 8A20 Entorhinal cortex 2.56E-01 -2.69E-02 -1.94E-01
Ankylosing spondylitis FA92.0 Pheripheral blood 9.40E-01 1.07E-01 3.21E-01
Aortic stenosis BB70 Calcified aortic valve 8.98E-01 -2.81E-02 -1.51E-01
Apnea 7A40 Hyperplastic tonsil 5.35E-01 4.06E-02 3.64E-01
Arthropathy FA00-FA5Z Peripheral blood 2.20E-01 -1.06E-01 -3.83E-01
Asthma CA23 Nasal and bronchial airway 1.07E-02 1.78E-01 3.76E-01
Atopic dermatitis EA80 Skin 9.36E-02 1.62E-01 6.00E-01
Autism 6A02 Whole blood 5.77E-01 -2.85E-02 -8.99E-02
Autoimmune uveitis 9A96 Peripheral monocyte 8.50E-01 -6.07E-02 -3.17E-01
Autosomal dominant monocytopenia 4B04 Whole blood 2.94E-01 -7.88E-02 -6.06E-01
Bacterial infection of gingival 1C1H Gingival tissue 1.66E-08 -2.67E-01 -7.13E-01
Batten disease 5C56.1 Whole blood 3.61E-01 -2.02E-01 -5.26E-01
Behcet's disease 4A62 Peripheral blood 3.38E-01 -3.27E-01 -1.05E+00
Bipolar disorder 6A60-6A6Z Prefrontal cortex 4.19E-01 -1.46E-02 -7.94E-02
Bladder cancer 2C94 Bladder tissue 4.70E-02 7.19E-02 3.74E-01
Breast cancer 2C60-2C6Z Breast tissue 9.57E-52 3.58E-01 1.25E+00
Cardioembolic stroke 8B11.20 Whole blood 8.54E-02 5.30E-02 1.69E-01
Cervical cancer 2C77 Cervical tissue 7.43E-03 -1.88E-01 -7.29E-01
Childhood onset rheumatic disease FA20.Z Peripheral blood 4.13E-01 -2.28E-01 -3.51E-01
Chronic hepatitis C 1E51.1 Whole blood 1.02E-01 -2.58E-01 -8.26E-01
Chronic obstructive pulmonary disease CA22 Lung tissue 8.79E-02 -1.21E-01 -5.56E-01
Chronic obstructive pulmonary disease CA22 Small airway epithelium 7.28E-01 -1.50E-03 -7.15E-03
Chronic rhinosinusitis CA0A Sinus mucosa tissue 9.75E-01 2.48E-02 2.23E-01
Colon cancer 2B90 Colon tissue 2.29E-10 1.40E-01 4.72E-01
Coronary artery disease BA80-BA8Z Peripheral blood 8.08E-01 1.37E-01 1.54E-01
Diffuse large B-cell lymphoma 2A81 Tonsil tissue 1.23E-01 8.24E-01 1.20E+00
Endometriosis GA10 Endometrium tissue 2.94E-01 6.11E-02 2.85E-01
Familial hypercholesterolemia 5C80.00 Peripheral blood 1.93E-01 -2.59E-01 -9.07E-01
Familial hypercholesterolemia 5C80.00 Whole blood 1.19E-01 2.94E-01 9.91E-01
Gastric cancer 2B72 Gastric tissue 7.77E-02 2.67E-01 1.11E+00
Glioblastopma 2A00.00 Nervous tissue 1.19E-36 2.17E-01 7.10E-01
Glioma 2A00.0Y-2A00.0Z Brain stem tissue 7.99E-01 -1.01E-01 -2.11E-01
Glioma 2A00.0Y-2A00.0Z White matter tissue 3.33E-01 1.50E-01 3.62E-01
Head and neck cancer 2D42 Head and neck tissue 2.85E-01 2.61E-02 5.88E-02
HIV-associated neurocognitive impairment 8A2Y-8A2Z White matter tissue 9.12E-01 4.07E-02 1.98E-01
Huntington's disease 8A01.10 Whole blood 1.69E-01 9.08E-02 4.29E-01
Idiopathic pulmonary fibrosis CB03.4 Lung tissue 2.65E-01 -1.52E-01 -4.67E-01
Immunodeficiency 4A00-4A20 Peripheral blood 3.63E-05 -6.57E-01 -2.69E+00
Influenza 1E30 Whole blood 6.72E-01 -1.29E-01 -7.21E-01
Interstitial cystitis GC00.3 Bladder tissue 3.94E-01 0.00E+00 0.00E+00
Intracranial aneurysm 8B01.0 Intracranial artery 4.95E-01 -6.62E-03 -1.94E-02
Irritable bowel syndrome DD91.0 Rectal colon tissue 4.99E-01 7.28E-02 2.16E-01
Ischemic stroke 8B11 Peripheral blood 7.56E-02 -2.08E-01 -5.23E-01
Juvenile idiopathic arthritis FA24 Peripheral blood 8.19E-02 1.79E-01 3.16E-01
Lateral sclerosis 8B60.4 Skin 9.12E-02 5.03E-02 7.51E-01
Lateral sclerosis 8B60.4 Cervical spinal cord 1.08E-01 8.71E-02 6.34E-01
Liver cancer 2C12.0 Liver tissue 3.77E-15 3.15E-01 1.49E+00
Liver failure DB99.7-DB99.8 Liver tissue 2.32E-01 5.92E-02 7.05E-01
Lung cancer 2C25 Lung tissue 1.24E-13 1.84E-01 5.83E-01
Lupus erythematosus 4A40 Whole blood 2.13E-01 -8.28E-02 -1.86E-01
Major depressive disorder 6A70-6A7Z Hippocampus 6.54E-01 -7.63E-03 -4.35E-02
Major depressive disorder 6A70-6A7Z Whole blood 8.56E-01 4.39E-02 1.10E-01
Melanoma 2C30 Skin 1.59E-02 -4.33E-01 -4.45E-01
Multiple myeloma 2A83.1 Peripheral blood 2.62E-01 9.21E-02 3.59E-01
Multiple myeloma 2A83.1 Bone marrow 3.33E-05 3.59E-01 2.24E+00
Multiple sclerosis 8A40 Plasmacytoid dendritic cells 8.83E-01 -3.69E-02 -1.10E-01
Myelodysplastic syndrome 2A36-2A3Z Bone marrow 1.80E-05 8.94E-02 4.77E-01
Myelofibrosis 2A20.2 Whole blood 1.29E-06 -2.75E-01 -1.72E+00
Myocardial infarction BA41-BA50 Peripheral blood 1.21E-01 -2.15E-01 -3.01E-01
Myopathy 8C70.6 Muscle tissue 9.68E-01 -9.62E-02 -2.98E-01
Neonatal sepsis KA60 Whole blood 2.54E-05 -3.45E-01 -6.74E-01
Neuroectodermal tumour 2A00.11 Brain stem tissue 1.10E-03 2.45E-01 9.81E-01
Non-alcoholic fatty liver disease DB92 Liver tissue 1.75E-01 5.70E-02 6.60E-01
Obesity related type 2 diabetes 5A11 Omental adipose tissue 4.67E-01 2.03E-02 1.80E-01
Olive pollen allergy CA08.00 Peripheral blood 9.41E-01 -1.08E-01 -3.74E-01
Oral cancer 2B6E Oral tissue 4.32E-01 -7.54E-02 -2.34E-01
Osteoarthritis FA00-FA0Z Synovial tissue 1.66E-01 1.68E-01 6.45E-01
Osteoporosis FB83.1 Bone marrow 3.70E-03 4.08E-01 2.91E+00
Ovarian cancer 2C73 Ovarian tissue 3.43E-01 -4.01E-02 -1.95E-01
Pancreatic cancer 2C10 Pancreas 7.63E-01 3.26E-02 6.99E-02
Parkinson's disease 8A00.0 Substantia nigra tissue 5.15E-01 8.14E-02 2.95E-01
Pediatric respiratory syncytial virus infection CA40.11 Peripheral blood 1.03E-01 -1.89E-01 -5.44E-01
Pituitary cancer 2D12 Pituitary tissue 1.13E-02 -5.20E-01 -1.75E+00
Pituitary gonadotrope tumour 2D12 Pituitary tissue 4.78E-03 -2.89E-01 -1.04E+00
Polycystic ovary syndrome 5A80.1 Vastus lateralis muscle 3.13E-01 1.11E-01 7.95E-01
Polycythemia vera 2A20.4 Whole blood 6.00E-08 -9.57E-02 -7.53E-01
Pompe disease 5C51.3 Biceps muscle 6.19E-01 4.79E-03 2.37E-02
Preterm birth KA21.4Z Myometrium 8.87E-01 -9.60E-02 -7.62E-01
Prostate cancer 2C82 Prostate 9.91E-01 8.71E-02 1.83E-01
Psoriasis EA90 Skin 4.51E-01 2.67E-02 6.45E-02
Rectal cancer 2B92 Rectal colon tissue 3.26E-01 -9.78E-02 -3.36E-01
Renal cancer 2C90-2C91 Kidney 1.80E-04 4.66E-01 2.03E+00
Retinoblastoma 2D02.2 Uvea 6.37E-01 -3.25E-02 -1.05E-01
Rheumatoid arthritis FA20 Synovial tissue 1.68E-03 1.64E-01 1.78E+00
Rhinovirus infection CA42.1 Nasal epithelium tissue 9.40E-01 2.52E-02 1.43E-01
Schizophrenia 6A20 Prefrontal cortex 3.84E-01 1.25E-01 1.50E-01
Schizophrenia 6A20 Superior temporal cortex 3.01E-02 -7.07E-02 -5.13E-01
Scleroderma 4A42.Z Whole blood 2.49E-02 -2.96E-01 -1.48E+00
Seizure 8A60-8A6Z Whole blood 1.83E-01 1.28E-01 3.69E-01
Sensitive skin EK0Z Skin 5.21E-01 3.07E-01 1.27E+00
Sepsis with septic shock 1G41 Whole blood 1.29E-26 -3.86E-01 -1.05E+00
Shwachman-Diamond syndrome 3A70.0 Bone marrow 5.00E-01 2.62E-02 6.75E-02
Sickle cell disease 3A51.0-3A51.3 Peripheral blood 1.21E-01 1.04E-01 6.29E-01
Simpson golabi behmel syndrome LD2C Adipose tissue 9.79E-01 2.38E-02 1.28E-01
Sjogren's syndrome 4A43.2 Salivary gland tissue 5.00E-01 -2.38E-01 -1.79E+00
Skin cancer 2C30-2C3Z Skin 9.33E-13 -3.90E-01 -8.30E-01
Thrombocythemia 3B63 Whole blood 1.99E-07 -2.71E-01 -1.89E+00
Thrombocytopenia 3B64 Whole blood 3.88E-01 -9.76E-02 -2.02E-01
Thyroid cancer 2D10 Thyroid 6.66E-01 -1.53E-02 -5.00E-02
Tibial muscular dystrophy 8C75 Muscle tissue 4.84E-02 -1.61E-01 -8.11E-01
Tuberous sclerosis complex LD2D.2 Perituberal tissue 7.76E-01 -1.13E-01 -6.37E-01
Type 2 diabetes 5A11 Liver tissue 3.78E-01 -8.19E-02 -3.74E-01
Ureter cancer 2C92 Urothelium 7.23E-01 8.45E-02 4.98E-01
Uterine cancer 2C78 Endometrium tissue 2.29E-01 7.44E-02 2.35E-01
Vitiligo ED63.0 Skin 7.91E-02 2.74E-01 1.06E+00
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⏷ Show the Full List of DME Expression Under 107 Diseases

References

1 CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans. Diabetes Metab Res Rev. 2007 Nov;23(8):631-6.
2 Placental vitamin D metabolism and its associations with circulating vitamin D metabolites in pregnant women. Am J Clin Nutr. 2017 Dec;106(6):1439-1448.