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DES and ATIC
Data Source:
BioGRID
(two hybrid)
HPRD
(two hybrid)
DES
ATIC
Description
desmin
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Image
No pdb structure
GO Annotations
Cellular Component
Nucleus
Cytosol
Intermediate Filament
Fascia Adherens
Intercalated Disc
Z Disc
Neuromuscular Junction
Sarcolemma
Intermediate Filament Cytoskeleton
Extracellular Exosome
Cardiac Myofibril
Cytosol
Plasma Membrane
Membrane
Extracellular Exosome
Molecular Function
Structural Constituent Of Cytoskeleton
Protein Binding
Cytoskeletal Protein Binding
Identical Protein Binding
IMP Cyclohydrolase Activity
Phosphoribosylaminoimidazolecarboxamide Formyltransferase Activity
Protein Homodimerization Activity
Cadherin Binding
Biological Process
Muscle Contraction
Cytoskeleton Organization
Regulation Of Heart Contraction
Muscle Filament Sliding
Intermediate Filament Organization
Brainstem Development
Nucleobase-containing Compound Metabolic Process
'de Novo' IMP Biosynthetic Process
Nucleoside Metabolic Process
Purine Ribonucleoside Monophosphate Biosynthetic Process
Response To Inorganic Substance
Cerebellum Development
Cerebral Cortex Development
Animal Organ Regeneration
Dihydrofolate Metabolic Process
Tetrahydrofolate Biosynthetic Process
Cellular Response To Interleukin-7
Pathways
Striated Muscle Contraction
Purine ribonucleoside monophosphate biosynthesis
Drugs
Tetrahydrofolic acid
Methotrexate
Pemetrexed
AICA ribonucleotide
Guanosine-5'-Monophosphate
5-monophosphate-9-beta-D-ribofuranosyl xanthine
Acid yellow 54 free acid
N-[4-([(2-Amino-4-oxo-1,4-dihydropyrido[3,2-d]pyrimidin-6-yl)methyl]{(2E)-3-[4-carbamoyl-1-(5-O-phosphono-beta-D-ribofuranosyl)-1H-imidazol-5-yl]-2-propenoyl}amino)benzoyl]-L-glutamic acid
Diseases
Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM)
Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy
Scapuloperoneal myopathy (SPM)
Dilated cardiomyopathy (DCM)
AICA-ribosiduria; ATIC deficiency
GWAS
Electrocardiogram morphology (amplitude at temporal datapoints) (
32916098
)
Resting heart rate (
27798624
)
Airway imaging phenotypes (
26030696
)
Metabolite levels (
23823483
)
Interacting Genes
60 interacting genes:
AURKB
BAG5
BRCA1
C1orf216
CAPN1
CLIP4
CRYAB
CT55
CWF19L2
DDX6
DSP
DUX1
DUX4
EHHADH
ENO1
GFAP
GOLGA6L9
HSPB1
ITSN1
KRT13
KRT15
KRT20
KRT33B
KRT37
KRT75
LBX1
LENG1
LMO4
LONRF3
M1AP
MAPKAPK2
NEB
NEFL
NEK6
PIAS2
PIH1D2
PKD1
PLEKHA5
POLR2G
PPL
PPP1R18
PRPH
RNF4
ROCK1
S100A1
S100B
SHBG
SNAPIN
SPTAN1
SYNC
SYNM
TCEA2
TFIP11
TRIM55
TRIM63
TRIM7
UBE2I
VIM
YES1
ZMYM5
5 interacting genes:
EGFR
LINC01554
MTNR1A
PRNP
SERPINB5
Entrez ID
1674
471
HPRD ID
00514
03434
Ensembl ID
ENSG00000175084
ENSG00000138363
Uniprot IDs
P17661
Q53SB5
P31939
V9HWH7
PDB IDs
1P4R
1PKX
1PL0
5UY8
5UZ0
Enriched GO Terms of Interacting Partners
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Tagcloud
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Tagcloud (Difference)
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Tagcloud (Intersection)
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