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KRTAP6-3 and GNE
Data Source:
BioGRID
(two hybrid)
KRTAP6-3
GNE
Description
keratin associated protein 6-3
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Image
No pdb structure
GO Annotations
Cellular Component
Cytosol
Intermediate Filament
Cytoplasm
Cytosol
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
Biological Process
Keratinization
N-acetylglucosamine Biosynthetic Process
UDP-N-acetylglucosamine Metabolic Process
N-acetylneuraminate Metabolic Process
Cell Adhesion
Carbohydrate Phosphorylation
Pathways
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
159 interacting genes:
ADAMTSL4
AGXT
ARID5A
ARMC7
ATPAF2
AUTS2
BAG4
BEX2
BSCL2
C11orf87
CAMK2A
CAMK2B
CAMK2G
CARHSP1
CCDC120
CCDC24
CCER1
CELF5
CHRD
CLCNKA
CNNM3
COL8A1
CREB5
CRY2
CTSZ
CYSRT1
DALRD3
DHRS1
DMRT3
FADS6
FAM214B
FAM83A
FBXW5
FCHO1
FOXD2
FOXD4L1
GATA2
GATA3
GLYCTK
GNE
GPS2
HAPLN2
HHEX
HOXA1
HOXB5
HOXB9
HOXC8
HR
HYAL2
ILF2
INCA1
INPP5D
ITGB4
KANK2
KPRP
KRT20
KRTAP11-1
KRTAP12-2
KRTAP19-2
KRTAP19-5
KRTAP19-6
KRTAP19-7
KRTAP26-1
KRTAP4-4
KRTAP6-1
KRTAP6-2
LAGE3
LCE1B
LCE1C
LCE1E
LCE1F
LCE2A
LCE2B
LCE2C
LCE3A
LCE3C
LCE3D
LCE3E
LCE5A
LGALS9
LNX1
MAGED1
MAPK1IP1L
MAPKBP1
MBD3L2
MED25
MEIS2
MEOX2
MGAT5B
NODAL
NOTO
NR4A3
OLIG3
OTX1
OXER1
P4HB
PATZ1
PCDHB14
PGAP6
PHETA1
PHLDA1
PIGS
PITX1
PLSCR4
POU4F2
POU4F3
PPP1R32
PPP1R37
PRMT8
PROP1
PRPF31
PRR13
PRR3
PRR35
PSMA1
PVR
RAB3IL1
RAD54L2
RASD1
RHBDL1
RUNX1T1
SAMD7
SEMA4C
SH3KBP1
SLC15A2
SLC22A5
SMARCC1
SMARCE1
SMCP
SNRPB
SNRPC
SNX18
STK16
STRA6
TAOK2
TBX2
TBX6
TCAF1
TCF7L2
TEKT4
TENT2
TEX45
TFAP2D
TLE5
TLX3
TNIP1
TNS2
TSPYL6
TYK2
VASN
VENTX
VSTM4
WDR25
ZBTB32
ZIC1
ZNF414
ZNF497
ZNF575
ZNF79
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
337968
10020
HPRD ID
11220
04825
Ensembl ID
ENSG00000212938
ENSG00000159921
Uniprot IDs
Q9Y223
PDB IDs
2YHW
2YHY
2YI1
3EO3
4ZHT
Enriched GO Terms of Interacting Partners
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Tagcloud (Intersection)
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