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KRTAP13-2 and GNE
Data Source:
BioGRID
(two hybrid)
KRTAP13-2
GNE
Description
keratin associated protein 13-2
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Image
No pdb structure
GO Annotations
Cellular Component
Cytosol
Intermediate 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
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
80 interacting genes:
ANAPC11
ANXA11
BCL6
C11orf1
C22orf39
CBFA2T2
CCDC125
CCDC24
CCDC57
CCNK
CRYBA1
CSKMT
CYSRT1
ENKD1
EPDR1
ETFDH
FANCL
FBXO17
FCHO1
GATA3
GEMIN4
GNE
GPS2
GRN
HNRNPH1
HOXA1
HR
KCTD9
KLHL38
KPRP
KRT3
KRTAP1-1
KRTAP10-5
KRTAP11-1
KRTAP12-2
KRTAP12-3
KRTAP15-1
KRTAP26-1
KRTAP3-1
KRTAP3-3
KRTAP4-4
KRTAP4-5
KRTAP9-2
MAGOHB
MEOX2
MGAT5B
NBPF19
NEK8
NHLRC4
NOTCH2NLA
OIP5
OTX1
P4HB
PATZ1
PHETA1
PITX1
POU2AF1
PPP1R32
RECK
RHOXF2
SLC25A18
SLIT1
SMUG1
SNRPC
SPEF1
SSC4D
STK16
TCAF1
TEX37
TLE5
TNS2
TRAPPC6A
TRIM68
TSPYL6
TSSK3
UNC5CL
VGLL3
VWC2
YPEL3
ZIC1
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
337959
10020
HPRD ID
11201
04825
Ensembl ID
ENSG00000182816
ENSG00000159921
Uniprot IDs
Q52LG2
Q9Y223
PDB IDs
2YHW
2YHY
2YI1
3EO3
4ZHT
Enriched GO Terms of Interacting Partners
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Tagcloud (Intersection)
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