Showing entry for Spinocerebellar Ataxia Type 1



                               
General Disease Information
BXGD IdBXGD010668
Disease NameSpinocerebellar Ataxia Type 1
Disease CUI IdC0752120
MeSH Codes C16   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7  
Disease Ontology Class Namegenetic disease; disease of anatomical entity
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
O00244 BXGT003902 Copper transport protein ATOX1 475 reviewed
O00555 BXGT003936 Voltage-dependent P/Q-type calcium channel subunit alpha-1A 773 reviewed Ion channel
O15379 BXGT004159 Histone deacetylase 3 8841 reviewed Epigenetic regulator
O43424 BXGT004592 Glutamate receptor ionotropic, delta-2 2895 reviewed Ion channel
O43497 BXGT004596 Voltage-dependent T-type calcium channel subunit alpha-1G 8913 reviewed Ion channel
O75582 BXGT005137 Ribosomal protein S6 kinase alpha-5 9252 reviewed Kinase
O95551 BXGT005384 Tyrosyl-DNA phosphodiesterase 2 51567 reviewed
O95718 BXGT005392 Steroid hormone receptor ERR2 2103 reviewed Nuclear receptor
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P02766 BXGT005953 Transthyretin 7276 reviewed Transporter
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04271 BXGT006177 Protein S100-B 6285 reviewed Calcium-binding protein
P04406 BXGT006207 Glyceraldehyde-3-phosphate dehydrogenase 2597 reviewed Enzyme
P04440 BXGT006216 HLA class II histocompatibility antigen, DP beta 1 chain 3115 reviewed Immune response
P05129 BXGT006322 Protein kinase C gamma type 5582 reviewed Kinase
P06730 BXGT006487 Eukaryotic translation initiation factor 4E 1977 reviewed Nucleic acid binding
P07333 BXGT006602 Macrophage colony-stimulating factor 1 receptor 1436 reviewed Kinase
P07900 BXGT006696 Heat shock protein HSP 90-alpha 3320 reviewed Chaperone
P08473 BXGT006773 Neprilysin 4311 reviewed Enzyme
P09429 BXGT006889 High mobility group protein B1 3146 reviewed Nucleic acid binding
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P21980 BXGT008715 Protein-glutamine gamma-glutamyltransferase 2 7052 reviewed Enzyme
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P26358 BXGT009104 DNA (cytosine-5)-methyltransferase 1 1786 reviewed Epigenetic regulator
P29320 BXGT009332 Ephrin type-A receptor 3 2042 reviewed Kinase
P39687 BXGT010131 Acidic leucine-rich nuclear phosphoprotein 32 family member A 8125 reviewed Enzyme modulator
P41212 BXGT010235 Transcription factor ETV6 2120 reviewed Transcription factor
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P42858 BXGT010341 Huntingtin 3064 reviewed
P43003 BXGT010347 Excitatory amino acid transporter 1 6507 reviewed Transporter
P51965 BXGT010911 Ubiquitin-conjugating enzyme E2 E1 7324 reviewed
Q00613 BXGT012540 Heat shock factor protein 1 3297 reviewed Transcription factor
Q04760 BXGT012782 Lactoylglutathione lyase 2739 reviewed
Q13153 BXGT013319 Serine/threonine-protein kinase PAK 1 5058 reviewed Kinase
Q13255 BXGT013332 Metabotropic glutamate receptor 1 2911 reviewed G-protein coupled receptor
Q13501 BXGT013365 Sequestosome-1 8878 reviewed
Q14671 BXGT013496 Pumilio homolog 1 9698 reviewed Nucleic acid binding
Q15257 BXGT013554 Serine/threonine-protein phosphatase 2A activator 5524 reviewed Enzyme modulator
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q16881 BXGT013688 Thioredoxin reductase 1, cytoplasmic 7296 reviewed Enzyme
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q92993 BXGT019403 Histone acetyltransferase KAT5 10524 reviewed
Q99700 BXGT019949 Ataxin-2 6311 reviewed Nucleic acid binding
Q9GZZ9 BXGT020430 Ubiquitin-like modifier-activating enzyme 5 79876 reviewed Enzyme
Q9NW15 BXGT021229 Anoctamin-10 55129 reviewed
Q9UBE8 BXGT021652 Serine/threonine-protein kinase NLK 51701 reviewed Kinase
P04439 BXGT022649 HLA class I histocompatibility antigen, A-3 alpha chain 3105 reviewed
Q9NYP7 BXGT022661 Elongation of very long chain fatty acids protein 5 60481 reviewed Enzyme
Q9Y5W7 BXGT022783 Sorting nexin-14 57231 reviewed Enzyme modulator
Q96I25 BXGT024184 Splicing factor 45 84991 reviewed Nucleic acid binding
P29590 BXGT024350 Protein PML 5371 reviewed
Q9UNE7 BXGT025000 E3 ubiquitin-protein ligase CHIP 10273 reviewed
Q9Y4W6 BXGT025025 AFG3-like protein 2 10939 reviewed Enzyme
Q05086 BXGT025648 Ubiquitin-protein ligase E3A 7337 reviewed
Q6IQ55 BXGT025689 Tau-tubulin kinase 2 146057 reviewed Kinase
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