Showing entry for alpha 1-Antitrypsin Deficiency


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD004472
Disease Namealpha 1-Antitrypsin Deficiency
Disease CUI IdC0221757
MeSH Codes C23   C16   C06   C08  
Disease Class NamePathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:0014667   DOID:630  
Disease Ontology Class Namedisease of metabolism; genetic disease
Disorder Network disorder-protein-compound-food associations
The  disease-related  target proteins
Proteins
Uniport Id BXGT Id Protein Name Gene Status Protein Class
Uniport Id BXGT Id Protein name Gene Status Protein class
O14746 BXGT004091 Telomerase reverse transcriptase 7015 reviewed Enzyme
O15118 BXGT004127 NPC intracellular cholesterol transporter 1 4864 reviewed Transporter
P01009 BXGT005714 Alpha-1-antitrypsin 5265 reviewed Enzyme modulator
P01011 BXGT005715 Alpha-1-antichymotrypsin 12 reviewed Enzyme modulator
P01023 BXGT005718 Alpha-2-macroglobulin 2 reviewed Enzyme modulator
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P02741 BXGT005936 C-reactive protein 1401 reviewed
P02774 BXGT005959 Vitamin D-binding protein 2638 reviewed Transporter
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P05154 BXGT006327 Plasma serine protease inhibitor 5104 reviewed Enzyme modulator
P05155 BXGT006328 Plasma protease C1 inhibitor 710 reviewed Enzyme modulator
P05164 BXGT006333 Myeloperoxidase 4353 reviewed Enzyme
P08246 BXGT006756 Neutrophil elastase 1991 reviewed Enzyme
P08686 BXGT006813 Steroid 21-hydroxylase 1589 reviewed
P09211 BXGT006869 Glutathione S-transferase P 2950 reviewed
P0CG47 BXGT007467 Polyubiquitin-B 7314 reviewed Nucleic acid binding
P11309 BXGT007685 Serine/threonine-protein kinase pim-1 5292 reviewed Kinase
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P13569 BXGT007923 Cystic fibrosis transmembrane conductance regulator 1080 reviewed Ion channel
P14902 BXGT008065 Indoleamine 2,3-dioxygenase 1 3620 reviewed
P18850 BXGT008433 Cyclic AMP-dependent transcription factor ATF-6 alpha 22926 reviewed
P24158 BXGT008951 Myeloblastin 5657 reviewed Enzyme
P25100 BXGT009017 Alpha-1D adrenergic receptor 146 reviewed G-protein coupled receptor
P32297 BXGT009616 Neuronal acetylcholine receptor subunit alpha-3 1136 reviewed Ion channel
P39900 BXGT010148 Macrophage metalloelastase 4321 reviewed Enzyme
P49748 BXGT010733 Very long-chain specific acyl-CoA dehydrogenase, mitochondrial 37 reviewed Enzyme
P52788 BXGT010953 Spermine synthase 6611 reviewed
P81172 BXGT011935 Hepcidin 57817 reviewed
Q13118 BXGT013312 Krueppel-like factor 10 7071 reviewed Nucleic acid binding
Q16874 BXGT013685 Cytochrome P450 21-hydroxylase 1589 unreviewed
Q30201 BXGT014297 Hereditary hemochromatosis protein 3077 reviewed
Q99581 BXGT019937 Protein FEV 54738 reviewed Transcription factor
Q9BQE4 BXGT020110 Selenoprotein S 55829 reviewed
Q9UKM7 BXGT021747 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 11253 reviewed Chaperone
Q9UKU7 BXGT021749 Isobutyryl-CoA dehydrogenase, mitochondrial 27034 reviewed Enzyme
Q9UKV5 BXGT021751 E3 ubiquitin-protein ligase AMFR 267 reviewed
Q9UNI1 BXGT021788 Chymotrypsin-like elastase family member 1 1990 reviewed Enzyme
P35670 BXGT023695 Copper-transporting ATPase 2 540 reviewed Transporter
Q969H8 BXGT025606 Myeloid-derived growth factor 56005 reviewed
The  disease-related  compounds
Compounds
BXGC Id Compound Name Structure Molecular Weight Number of targets?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease
The  disease-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compounds in food?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease