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KRTAP6-1 and GNE
Number of citations of the paper that reports this interaction (PubMedID
32296183
)
50
Data Source:
BioGRID
(two hybrid)
KRTAP6-1
GNE
Description
keratin associated protein 6-1
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
Nucleotide Binding
Catalytic Activity
Hydrolase Activity, Hydrolyzing O-glycosyl Compounds
Protein Binding
ATP Binding
UDP-N-acetylglucosamine 2-epimerase Activity
N-acylmannosamine Kinase Activity
Kinase Activity
Transferase Activity
Hydrolase Activity
Metal Ion Binding
Biological Process
Keratinization
N-acetylglucosamine Biosynthetic Process
UDP-N-acetylglucosamine Metabolic Process
N-acetylneuraminate Metabolic Process
CMP-N-acetylneuraminate Biosynthetic Process
N-acetylneuraminate Biosynthetic Process
Carbohydrate Phosphorylation
Glycosylation
Pathways
Keratinization
Sialic acid metabolism
Defective GNE causes sialuria, NK and IBM2
Drugs
Diseases
Sialuria/ Sialic acid storage disease, including: Infantile sialic acid storage disease (ISSD); Sialuria, Finnish type / Salla disease (SD); Sialuria, French type
Nonaka distal myopathy (NM); Distal myopathy with rimmed vacuoles (DMRV); Hereditary inclusion body myopathy (hIBM)
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)
GWAS
Bipolar disorder (inflammation and infection response interaction) (
25781172
)
Bisphosphonate-associated atypical femoral fracture (
31006051
)
Interacting Genes
91 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
SPANXB1
TCF7L2
TEKT3
TENT5B
TFAP2D
TLX3
TNIP1
TOLLIP
TRAPPC14
TRIP13
UNC5CL
VAC14
VENTX
VGLL3
VPS37C
ZBTB32
ZC3H10
ZIC1
ZNF414
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
337966
10020
HPRD ID
11218
04825
Ensembl ID
ENSG00000184724
ENSG00000159921
Uniprot IDs
Q3LI64
A0A7I2SU25
Q9Y223
PDB IDs
2YHW
2YHY
2YI1
3EO3
4ZHT
Enriched GO Terms of Interacting Partners
?
Sequence-specific Double-stranded DNA Binding
DNA-binding Transcription Factor Activity, RNA Polymerase II-specific
Regulation Of RNA Metabolic Process
Chromatin
Regulation Of Nucleobase-containing Compound Metabolic Process
Negative Regulation Of RNA Metabolic Process
Regulation Of DNA-templated Transcription
Regulation Of RNA Biosynthetic Process
Regulation Of Transcription By RNA Polymerase II
Negative Regulation Of Nucleobase-containing Compound Metabolic Process
Positive Regulation Of RNA Biosynthetic Process
Positive Regulation Of DNA-templated Transcription
Positive Regulation Of Transcription By RNA Polymerase II
Negative Regulation Of Transcription By RNA Polymerase II
RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding
Negative Regulation Of DNA-templated Transcription
Negative Regulation Of RNA Biosynthetic Process
DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific
DNA-binding Transcription Factor Activity
Positive Regulation Of RNA Metabolic Process
DNA-binding Transcription Activator Activity, RNA Polymerase II-specific
Nucleus
Protein Binding
Positive Regulation Of Nucleobase-containing Compound Metabolic Process
Regulation Of Primary Metabolic Process
Positive Regulation Of Macromolecule Biosynthetic Process
Intermediate Filament
Regulation Of Gene Expression
DNA Binding
Positive Regulation Of Biosynthetic Process
Regulation Of Macromolecule Biosynthetic Process
Pattern Specification Process
Keratin Filament
Positive Regulation Of Macromolecule Metabolic Process
Regulation Of Macromolecule Metabolic Process
Sequence-specific DNA Binding
Identical Protein Binding
Transcription Regulator Complex
Myoblast Fate Commitment
Negative Regulation Of Macromolecule Metabolic Process
Regionalization
SMN-Sm Protein Complex
Positive Regulation Of Metabolic Process
Negative Regulation Of Metabolic Process
Anterior/posterior Pattern Specification
Calcium- And Calmodulin-dependent Protein Kinase Complex
Regulation Of Metabolic Process
Negative Regulation Of Macromolecule Biosynthetic Process
Atrioventricular Valve Development
Embryonic Morphogenesis
Intermediate Filament
Keratin Filament
Structural Constituent Of Skin Epidermis
Cytosol
Hair Cycle
Keratinization
Intermediate Filament Organization
Structural Molecule Activity
Epidermis Development
Intermediate Filament Cytoskeleton Organization
Intermediate Filament-based Process
Negative Regulation Of Fibroblast Growth Factor Receptor Signaling Pathway
Negative Regulation Of Neurotrophin TRK Receptor Signaling Pathway
Negative Regulation Of Lens Fiber Cell Differentiation
Negative Regulation Of Ras Protein Signal Transduction
Protein Binding
Identical Protein Binding
Regulation Of Fibroblast Growth Factor Receptor Signaling Pathway
Bud Elongation Involved In Lung Branching
Interstitial Matrix
Regulation Of Lens Fiber Cell Differentiation
Regulation Of Ras Protein Signal Transduction
Regulation Of Neurotrophin TRK Receptor Signaling Pathway
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