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KRT83 and GNE
Data Source:
BioGRID
(two hybrid)
KRT83
GNE
Description
keratin 83
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Image
No pdb structure
GO Annotations
Cellular Component
Extracellular Space
Cytosol
Keratin Filament
Cytoplasm
Cytosol
Molecular Function
Protein Binding
Hydrolase Activity, Hydrolyzing O-glycosyl Compounds
Protein Binding
ATP Binding
UDP-N-acetylglucosamine 2-epimerase Activity
N-acylmannosamine Kinase Activity
Metal Ion Binding
Biological Process
Aging
Epidermis Development
Keratinization
Hair Cycle
Cornification
N-acetylglucosamine Biosynthetic Process
UDP-N-acetylglucosamine Metabolic Process
N-acetylneuraminate Metabolic Process
Cell Adhesion
Carbohydrate Phosphorylation
Pathways
Keratinization
Formation of the cornified envelope
Sialic acid metabolism
Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
Drugs
Diseases
Monilethrix
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
GWAS
Bipolar disorder (inflammation and infection response interaction) (
25781172
)
Bisphosphonate-associated atypical femoral fracture (
31006051
)
Interacting Genes
40 interacting genes:
ADAM12
ANKS1A
C11orf87
CEP57
CREB5
CYSRT1
GEM
GNE
GSTP1
HOXA1
KRT15
KRT16
KRT19
KRT25
KRT27
KRT31
KRT33B
KRT34
KRT35
KRT37
KRT38
KRT39
KRT40
KRTAP10-3
KRTAP10-7
KRTAP10-8
KRTAP10-9
KRTAP11-1
KRTAP13-3
KRTAP3-3
KRTAP6-2
MEOX2
NBPF19
NOTCH2NLA
NRF1
OIP5
PITX1
PLEKHN1
POU4F2
ZDHHC1
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
Entrez ID
3889
10020
HPRD ID
09097
04825
Ensembl ID
ENSG00000170523
ENSG00000159921
Uniprot IDs
P78385
Q9Y223
PDB IDs
2YHW
2YHY
2YI1
3EO3
4ZHT
Enriched GO Terms of Interacting Partners
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Tagcloud (Difference)
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Tagcloud (Intersection)
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