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KRTAP12-3 and GNE
Data Source:
BioGRID
(two hybrid)
KRTAP12-3
GNE
Description
keratin associated protein 12-3
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Image
No pdb structure
GO Annotations
Cellular Component
Cytosol
Keratin Filament
Cytoplasm
Cytosol
Molecular Function
Protein Binding
Identical 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
142 interacting genes:
ADAMTSL3
ADAMTSL4
AGXT
ALDH3B1
BCL6B
BMP7
C11orf87
C22orf39
CARD10
CATSPER1
CBX2
CELF5
CHIC2
CHRD
CHRNG
CNNM3
COL8A1
CRCT1
CREB5
CYSRT1
DALRD3
DHRS1
DHX57
DNAL4
DOCK2
FASLG
FBXW5
GLRX3
GNE
GTF3C5
HOXA1
ITGB4
JOSD1
KPRP
KRT20
KRTAP1-1
KRTAP10-7
KRTAP10-8
KRTAP10-9
KRTAP11-1
KRTAP12-1
KRTAP13-1
KRTAP13-2
KRTAP13-3
KRTAP19-7
KRTAP3-3
KRTAP4-2
KRTAP4-4
KRTAP5-6
KRTAP5-9
KRTAP6-1
KRTAP6-2
KRTAP9-2
LCE1A
LCE1B
LCE1C
LCE1E
LCE1F
LCE2A
LCE2B
LCE2C
LCE2D
LCE3A
LCE3C
LCE3D
LCE3E
LCE4A
LCE5A
LIF
LMNTD2
LNX1
LYVE1
MAPKBP1
MEOX2
MISP
MOBP
NBPF19
NKD1
NMU
NOTCH2NLA
NPDC1
NR1D2
NR4A3
NUFIP2
OTX1
OXER1
P2RX4
P2RY6
P3H3
P4HB
PDE9A
PDGFRB
PGAP6
PHLDA1
POU4F2
PTGDS
PTPMT1
R3HDM2
RSPO2
SELENOM
SHFL
SLC13A5
SLC15A2
SLC23A1
SPATA3
SPRY1
TCEA2
TCEANC
TFAP2D
TMIE
TNP2
TNS2
TTPA
UTP23
UXT
VASN
VGLL3
VSTM4
WDR25
WNT11
YY1
ZDHHC1
ZNF101
ZNF124
ZNF138
ZNF20
ZNF408
ZNF417
ZNF439
ZNF440
ZNF467
ZNF490
ZNF491
ZNF497
ZNF578
ZNF587
ZNF648
ZNF696
ZNF80
ZNF835
ZNF837
ZSCAN21
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
386683
10020
HPRD ID
11199
04825
Ensembl ID
ENSG00000205439
ENSG00000159921
Uniprot IDs
P60328
Q9Y223
PDB IDs
2YHW
2YHY
2YI1
3EO3
4ZHT
Enriched GO Terms of Interacting Partners
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Tagcloud (Intersection)
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