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GNE and CFP
Data Source:
BioGRID
(two hybrid)
GNE
CFP
Description
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
complement factor properdin
Image
GO Annotations
Cellular Component
Cytoplasm
Cytosol
Extracellular Region
Extracellular Space
Endoplasmic Reticulum Lumen
Specific Granule Lumen
Collagen-containing Extracellular Matrix
Tertiary Granule Lumen
Molecular Function
Hydrolase Activity, Hydrolyzing O-glycosyl Compounds
Protein Binding
ATP Binding
UDP-N-acetylglucosamine 2-epimerase Activity
N-acylmannosamine Kinase Activity
Metal Ion Binding
Protein Binding
Biological Process
N-acetylglucosamine Biosynthetic Process
UDP-N-acetylglucosamine Metabolic Process
N-acetylneuraminate Metabolic Process
Cell Adhesion
Carbohydrate Phosphorylation
Immune Response
Complement Activation
Complement Activation, Alternative Pathway
Regulation Of Complement Activation
Defense Response To Bacterium
Neutrophil Degranulation
Pathways
Sialic acid metabolism
Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
Alternative complement activation
Activation of C3 and C5
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Neutrophil degranulation
Regulation of Complement cascade
Drugs
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)
Nonaka distal myopathy (NM); Distal myopathy with rimmed vacuoles (DMRV); Hereditary inclusion body myopathy (hIBM)
Sialuria/ Sialic acid storage disease, including: Infantile sialic acid storage disease (ISSD); Sialuria, Finnish type / Salla disease (SD); Sialuria, French type
Alternative complement pathway component defects, including the following four diseases: Factor B deficiency; Factor D deficiency; Factor H deficiency; Properdin deficiency
GWAS
Bipolar disorder (inflammation and infection response interaction) (
25781172
)
Bisphosphonate-associated atypical femoral fracture (
31006051
)
Interacting Genes
65 interacting genes:
ADAMTSL4
C22orf39
CFP
CRMP1
CYSRT1
ECM1
EGFL7
GRN
GTPBP3
HOXA1
KIAA1549
KPRP
KRT31
KRT34
KRT40
KRT83
KRT85
KRT86
KRTAP1-1
KRTAP1-3
KRTAP10-3
KRTAP10-5
KRTAP10-7
KRTAP10-8
KRTAP10-9
KRTAP11-1
KRTAP12-3
KRTAP13-2
KRTAP13-3
KRTAP17-1
KRTAP19-2
KRTAP19-7
KRTAP3-1
KRTAP3-3
KRTAP4-1
KRTAP4-11
KRTAP4-12
KRTAP4-4
KRTAP5-9
KRTAP6-1
KRTAP6-2
KRTAP6-3
KRTAP9-2
KRTAP9-3
KRTAP9-8
MDFI
MGAT5B
NBPF19
NID2
NOTCH2NLA
PLA2G10
PRICKLE4
RIF1
SPRY1
SPRY2
SPRY3
SSC4D
TRIM27
TRIM42
TRIP6
TSPAN4
VWC2
WDR83
WWOX
ZBTB16
32 interacting genes:
BANF2
C3
CFAP206
CFB
CYSRT1
FHL5
FKBP6
GEMIN4
GNE
HEXIM2
HOXA1
KCTD9
KLHL38
KRTAP11-1
KRTAP12-2
KRTAP3-1
KRTAP6-2
LCE1A
LONRF1
MID2
MTOR
NEK6
NOXA1
PRKAB2
RECK
SMARCC1
SPAG8
STK16
TRIP13
VENTX
ZNF330
ZNF414
Entrez ID
10020
5199
HPRD ID
04825
02308
Ensembl ID
ENSG00000159921
ENSG00000126759
Uniprot IDs
Q9Y223
A0A0S2Z4I5
P27918
PDB IDs
2YHW
2YHY
2YI1
3EO3
4ZHT
1W0R
1W0S
6RUR
6RUS
6RUV
6RV6
6S08
6S0A
6S0B
6SEJ
Enriched GO Terms of Interacting Partners
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Tagcloud (Intersection)
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