Details of Drug-Metabolizing Enzyme (DME)

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

DME Name Friedreich ataxia protein (FXN)
Synonyms Frataxin intermediate form; Frataxin mature form; Frataxin(56-210); Frataxin(78-210); Frataxin(81-210); Frataxin, mitochondrial; X25; d-FXN; i-FXN; m56-FXN; m78-FXN; FRDA; FXN; Fxn; m81-FXN
Gene Name FXN
UniProt ID
FRDA_HUMAN
INTEDE ID
DME0416
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Gene ID
2395
EC Number EC: 1.16.3.1
Oxidoreductase
Metal ion oxidoreductase
Oxygen acceptor oxidoreductase
EC: 1.16.3.1
Lineage Species: Homo sapiens
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
Sequence
MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQR
GLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTF
EDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPSSGPKRYDWTGKNWVYSHDGV
SLHELLAAELTKALKTKLDLSSLAYSGKDA
Function
This enzyme promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. It may play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. It may be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization.
KEGG Pathway
Porphyrin and chlorophyll metabolism (hsa00860 )
Reactome Pathway
Mitochondrial protein import (R-HSA-1268020 )
Mitochondrial iron-sulfur cluster biogenesis (R-HSA-1362409 )

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
Iron DMAP8MV Anemia of prematurity 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 6.86E-07 -1.96E-01 -6.66E-01
Alopecia ED70 Skin from scalp 1.35E-03 1.50E-01 5.26E-01
Alzheimer's disease 8A20 Entorhinal cortex 3.58E-05 -8.20E-02 -5.54E-01
Ankylosing spondylitis FA92.0 Pheripheral blood 5.39E-02 1.49E-01 1.16E+00
Aortic stenosis BB70 Calcified aortic valve 8.58E-01 -7.53E-02 -1.91E-01
Apnea 7A40 Hyperplastic tonsil 8.55E-02 -1.62E-01 -9.78E-01
Arthropathy FA00-FA5Z Peripheral blood 2.20E-02 -2.44E-01 -1.24E+00
Asthma CA23 Nasal and bronchial airway 5.70E-07 2.10E-01 5.06E-01
Atopic dermatitis EA80 Skin 1.39E-01 7.30E-02 3.93E-01
Autism 6A02 Whole blood 3.49E-05 -2.44E-01 -1.24E+00
Autoimmune uveitis 9A96 Peripheral monocyte 4.52E-01 -1.02E-01 -1.72E+00
Autosomal dominant monocytopenia 4B04 Whole blood 1.43E-01 2.14E-01 1.53E+00
Bacterial infection of gingival 1C1H Gingival tissue 2.68E-01 2.45E-02 1.89E-01
Batten disease 5C56.1 Whole blood 7.59E-01 3.05E-02 2.43E-01
Behcet's disease 4A62 Peripheral blood 5.49E-01 1.14E-01 6.32E-01
Bipolar disorder 6A60-6A6Z Prefrontal cortex 2.37E-01 7.14E-04 4.48E-03
Bladder cancer 2C94 Bladder tissue 5.82E-02 -1.01E-01 -9.49E-01
Breast cancer 2C60-2C6Z Breast tissue 1.65E-04 3.21E-02 1.05E-01
Cardioembolic stroke 8B11.20 Whole blood 2.58E-01 1.10E-01 5.94E-01
Cervical cancer 2C77 Cervical tissue 8.13E-01 -5.85E-02 -2.86E-01
Childhood onset rheumatic disease FA20.Z Peripheral blood 4.98E-01 -2.06E-02 -2.94E-02
Chronic hepatitis C 1E51.1 Whole blood 1.52E-01 -1.64E-01 -1.00E+00
Chronic obstructive pulmonary disease CA22 Lung tissue 4.22E-01 -3.86E-02 -1.52E-01
Chronic obstructive pulmonary disease CA22 Small airway epithelium 1.67E-01 -4.05E-02 -2.21E-01
Chronic rhinosinusitis CA0A Sinus mucosa tissue 1.46E-01 1.48E-01 1.08E+00
Colon cancer 2B90 Colon tissue 5.43E-35 4.00E-01 1.38E+00
Coronary artery disease BA80-BA8Z Peripheral blood 6.11E-01 -1.32E-02 -4.50E-02
Diffuse large B-cell lymphoma 2A81 Tonsil tissue 6.55E-01 8.47E-03 3.54E-02
Endometriosis GA10 Endometrium tissue 1.93E-02 -2.17E-01 -6.20E-01
Familial hypercholesterolemia 5C80.00 Peripheral blood 7.88E-01 9.46E-02 6.65E-01
Familial hypercholesterolemia 5C80.00 Whole blood 7.24E-02 -1.04E-01 -6.47E-01
Gastric cancer 2B72 Gastric tissue 1.03E-01 4.77E-01 1.51E+00
Glioblastopma 2A00.00 Nervous tissue 8.25E-29 1.48E-01 6.75E-01
Glioma 2A00.0Y-2A00.0Z Brain stem tissue 8.73E-01 -4.03E-03 -3.10E-02
Glioma 2A00.0Y-2A00.0Z White matter tissue 3.31E-05 5.29E-01 1.88E+00
Head and neck cancer 2D42 Head and neck tissue 3.02E-03 3.76E-02 2.16E-01
HIV-associated neurocognitive impairment 8A2Y-8A2Z White matter tissue 3.95E-01 -3.91E-02 -3.60E-01
Huntington's disease 8A01.10 Whole blood 1.07E-01 -1.48E-02 -1.16E-01
Idiopathic pulmonary fibrosis CB03.4 Lung tissue 2.37E-01 1.19E-02 4.86E-02
Immunodeficiency 4A00-4A20 Peripheral blood 6.34E-02 6.96E-02 8.82E-01
Influenza 1E30 Whole blood 1.57E-03 -4.23E-01 -3.56E+00
Interstitial cystitis GC00.3 Bladder tissue 8.37E-01 -8.96E-03 -7.05E-02
Intracranial aneurysm 8B01.0 Intracranial artery 3.87E-03 2.18E-01 2.00E+00
Irritable bowel syndrome DD91.0 Rectal colon tissue 1.08E-02 1.26E-01 5.12E-01
Ischemic stroke 8B11 Peripheral blood 2.82E-01 -5.04E-02 -2.39E-01
Juvenile idiopathic arthritis FA24 Peripheral blood 1.18E-03 -1.73E-01 -6.89E-01
Lateral sclerosis 8B60.4 Skin 8.53E-02 2.91E-01 1.28E+00
Lateral sclerosis 8B60.4 Cervical spinal cord 4.68E-01 1.33E-01 6.58E-01
Liver cancer 2C12.0 Liver tissue 2.10E-11 -6.47E-01 -1.33E+00
Liver failure DB99.7-DB99.8 Liver tissue 5.75E-05 -7.62E-01 -3.27E+00
Lung cancer 2C25 Lung tissue 5.18E-34 1.86E-01 9.47E-01
Lupus erythematosus 4A40 Whole blood 2.94E-02 -1.05E-01 -2.98E-01
Major depressive disorder 6A70-6A7Z Hippocampus 7.63E-01 -7.82E-02 -4.71E-01
Major depressive disorder 6A70-6A7Z Whole blood 2.20E-03 -1.20E-01 -5.82E-01
Melanoma 2C30 Skin 6.25E-01 1.17E-01 1.89E-01
Multiple myeloma 2A83.1 Peripheral blood 1.26E-01 -3.29E-01 -1.13E+00
Multiple myeloma 2A83.1 Bone marrow 1.80E-03 2.60E-01 1.27E+00
Multiple sclerosis 8A40 Plasmacytoid dendritic cells 8.74E-01 -1.24E-01 -3.83E-01
Myelodysplastic syndrome 2A36-2A3Z Bone marrow 4.69E-04 1.03E-01 3.81E-01
Myelofibrosis 2A20.2 Whole blood 5.24E-02 1.06E-01 8.23E-01
Myocardial infarction BA41-BA50 Peripheral blood 5.46E-02 -1.34E-01 -3.09E-01
Myopathy 8C70.6 Muscle tissue 4.33E-03 -4.68E-01 -1.84E+00
Neonatal sepsis KA60 Whole blood 3.06E-27 -5.37E-01 -2.35E+00
Neuroectodermal tumour 2A00.11 Brain stem tissue 6.65E-03 4.68E-01 1.36E+00
Non-alcoholic fatty liver disease DB92 Liver tissue 3.69E-01 -2.65E-01 -6.53E-01
Obesity related type 2 diabetes 5A11 Omental adipose tissue 6.92E-01 3.34E-02 1.10E-01
Olive pollen allergy CA08.00 Peripheral blood 1.08E-01 1.09E-01 8.90E-01
Oral cancer 2B6E Oral tissue 7.64E-01 -4.67E-02 -1.42E-01
Osteoarthritis FA00-FA0Z Synovial tissue 7.47E-01 5.87E-02 1.13E-01
Osteoporosis FB83.1 Bone marrow 4.61E-01 2.04E-02 1.17E-01
Ovarian cancer 2C73 Ovarian tissue 4.23E-01 -4.59E-03 -1.66E-02
Pancreatic cancer 2C10 Pancreas 2.87E-05 -4.49E-01 -1.87E+00
Parkinson's disease 8A00.0 Substantia nigra tissue 5.46E-01 -7.85E-02 -2.80E-01
Pediatric respiratory syncytial virus infection CA40.11 Peripheral blood 1.94E-02 -1.26E-01 -8.78E-01
Pituitary cancer 2D12 Pituitary tissue 2.70E-03 3.79E-01 1.13E+00
Pituitary gonadotrope tumour 2D12 Pituitary tissue 1.14E-03 4.43E-01 1.67E+00
Polycystic ovary syndrome 5A80.1 Vastus lateralis muscle 5.38E-01 -7.98E-02 -6.89E-01
Polycythemia vera 2A20.4 Whole blood 2.70E-02 -7.73E-02 -5.63E-01
Pompe disease 5C51.3 Biceps muscle 2.00E-02 -3.92E-01 -1.42E+00
Preterm birth KA21.4Z Myometrium 4.14E-01 1.22E-01 8.08E-01
Prostate cancer 2C82 Prostate 2.45E-03 5.70E-01 1.03E+00
Psoriasis EA90 Skin 5.62E-04 6.83E-02 2.46E-01
Rectal cancer 2B92 Rectal colon tissue 4.40E-02 3.87E-01 1.26E+00
Renal cancer 2C90-2C91 Kidney 6.24E-01 -6.30E-02 -2.34E-01
Retinoblastoma 2D02.2 Uvea 2.19E-11 1.08E+00 8.45E+00
Rheumatoid arthritis FA20 Synovial tissue 6.64E-01 3.34E-02 5.86E-02
Rhinovirus infection CA42.1 Nasal epithelium tissue 8.27E-01 -5.09E-03 -3.89E-02
Schizophrenia 6A20 Prefrontal cortex 7.60E-01 -1.74E-02 -4.56E-02
Schizophrenia 6A20 Superior temporal cortex 2.09E-01 -3.64E-02 -4.74E-01
Scleroderma 4A42.Z Whole blood 4.22E-01 1.60E-02 1.46E-01
Seizure 8A60-8A6Z Whole blood 9.65E-01 5.69E-02 1.74E-01
Sensitive skin EK0Z Skin 3.40E-01 -1.19E-01 -2.18E+00
Sepsis with septic shock 1G41 Whole blood 3.87E-71 -5.52E-01 -2.48E+00
Shwachman-Diamond syndrome 3A70.0 Bone marrow 7.52E-02 -2.45E-01 -1.12E+00
Sickle cell disease 3A51.0-3A51.3 Peripheral blood 5.19E-02 -9.21E-02 -5.43E-01
Simpson golabi behmel syndrome LD2C Adipose tissue 2.73E-01 -8.41E-02 -4.05E-01
Sjogren's syndrome 4A43.2 Salivary gland tissue 2.43E-01 1.01E-01 1.15E+00
Skin cancer 2C30-2C3Z Skin 2.21E-34 4.79E-01 1.21E+00
Thrombocythemia 3B63 Whole blood 6.85E-01 6.03E-04 4.55E-03
Thrombocytopenia 3B64 Whole blood 8.14E-03 -4.15E-01 -1.62E+00
Thyroid cancer 2D10 Thyroid 1.39E-11 -3.22E-01 -1.08E+00
Tibial muscular dystrophy 8C75 Muscle tissue 3.69E-06 -6.80E-01 -2.36E+00
Tuberous sclerosis complex LD2D.2 Perituberal tissue 7.84E-01 -7.02E-02 -3.91E-01
Type 2 diabetes 5A11 Liver tissue 4.41E-01 1.16E-01 4.51E-01
Ureter cancer 2C92 Urothelium 7.07E-01 -1.64E-02 -1.48E-01
Uterine cancer 2C78 Endometrium tissue 1.44E-09 -3.60E-01 -6.07E-01
Vitiligo ED63.0 Skin 9.42E-01 -1.52E-01 -6.39E-01
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References

1 Iron dysregulation in Friedreich ataxia. Semin Pediatr Neurol. 2006 Sep;13(3):166-75.