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KRTAP3-1 and GNE
Data Source:
BioGRID
(two hybrid)
KRTAP3-1
GNE
Description
keratin associated protein 3-1
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Image
No pdb structure
GO Annotations
Cellular Component
Cytosol
Keratin Filament
Cytoplasm
Cytosol
Molecular Function
Structural Molecule Activity
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
Keratinization
N-acetylglucosamine Biosynthetic Process
UDP-N-acetylglucosamine Metabolic Process
N-acetylneuraminate Metabolic Process
Cell Adhesion
Carbohydrate Phosphorylation
Pathways
Keratinization
Sialic acid metabolism
Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
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
GWAS
Bipolar disorder (inflammation and infection response interaction) (
25781172
)
Bisphosphonate-associated atypical femoral fracture (
31006051
)
Interacting Genes
82 interacting genes:
ADAM12
AGXT
ANAPC11
BMP7
C20orf85
CDKN1A
CELA2B
CERK
CFP
CNNM3
CREB5
CTRC
CYSRT1
DMRT3
DOCK2
FAM168A
FAM222B
FOXH1
FRS3
GATA2
GNE
GPS2
GSTP1
HCK
HEY2
HOXB9
HR
HSF4
IL16
ITGB4
KRTAP10-8
KRTAP13-2
KRTAP13-3
KRTAP15-1
KRTAP26-1
KRTAP4-11
KRTAP4-12
KRTAP6-1
KRTAP9-3
KRTAP9-8
LCE1B
LCE2B
LCE3A
LCE3D
LCE4A
LCE5A
LMO4
LRRC41
MAPKBP1
MRPL40
MYPOP
NOTCH2NLA
NTAQ1
OTX1
PATZ1
PCSK5
PHLDA1
PKIB
PLSCR4
POLR1C
PPP1R32
PTPMT1
PVR
RBPMS
RECK
REEP6
RNF44
SAMD7
SMARCC1
SPAG8
TEKT3
TEX37
TLX3
TNS2
VASN
VENTX
VGLL3
WDR25
YPEL3
ZFHX2
ZNF414
ZNF446
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
83896
10020
HPRD ID
13937
04825
Ensembl ID
ENSG00000212901
ENSG00000159921
Uniprot IDs
Q9BYR8
Q9Y223
PDB IDs
2YHW
2YHY
2YI1
3EO3
4ZHT
Enriched GO Terms of Interacting Partners
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Tagcloud (Intersection)
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