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GNE and KRTAP6-1
Data Source:
BioGRID
(two hybrid)
GNE
KRTAP6-1
Description
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
keratin associated protein 6-1
Image
No pdb structure
GO Annotations
Cellular Component
Cytoplasm
Cytosol
Cytosol
Intermediate Filament
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
Protein Binding
Biological Process
N-acetylglucosamine Biosynthetic Process
UDP-N-acetylglucosamine Metabolic Process
N-acetylneuraminate Metabolic Process
Cell Adhesion
Carbohydrate Phosphorylation
Keratinization
Pathways
Sialic acid metabolism
Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
Keratinization
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
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
90 interacting genes:
ANAPC11
APOBEC1
ARID5A
BAHD1
BHLHE40
C11orf16
CAMK2A
CAMK2G
CATSPER1
CCDC120
CCDC187
CCDC24
CDA
CELF5
CREB5
CRYAB
CYSRT1
DAZAP2
DTX2
EFEMP1
EVX2
FCHO1
GLIS2
GLIS3
GNE
GPS2
GRN
HELT
HEY2
HHEX
HOXA1
HOXC8
ITIH6
KPRP
KRTAP11-1
KRTAP12-1
KRTAP12-3
KRTAP26-1
KRTAP3-1
KRTAP4-5
KRTAP6-2
KRTAP6-3
LONRF1
MAGED1
MAPK1IP1L
MED25
MEIS2
MGAT5B
MYOZ3
NAF1
NOTO
NTAQ1
OLIG3
OSR2
OTX1
P4HA3
PATZ1
PDIA2
PITX1
PITX2
PLSCR3
PLSCR4
POU1F1
POU4F2
PRR13
PRR35
RBPMS2
RHOXF2
SMARCC1
SMN1
SMN2
SNRPB
TCF7L2
TEKT3
TENT5B
TFAP2D
TLX3
TNIP1
TOLLIP
TRAPPC14
TRIP13
UNC5CL
VAC14
VENTX
VGLL3
VPS37C
ZBTB32
ZC3H10
ZIC1
ZNF414
Entrez ID
10020
337966
HPRD ID
04825
11218
Ensembl ID
ENSG00000159921
ENSG00000184724
Uniprot IDs
Q9Y223
Q3LI64
PDB IDs
2YHW
2YHY
2YI1
3EO3
4ZHT
Enriched GO Terms of Interacting Partners
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