GNE V572L [cytosol]

Stable Identifier
R-HSA-4088323
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, GLCNE_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q9Y223 GNE
Gene Names
GNE, GLCNE
Chain
chain:1-722
Reference Genes
BioGPS Gene:10020 GNE
COSMIC (genes):GNE GNE
CTD Gene:10020 GNE
dbSNP Gene:10020 GNE
ENSEMBL:ENSG00000159921 GNE
HGNC:23657 GNE
KEGG Gene (Homo sapiens):10020 GNE
Monarch:10020 GNE
NCBI Gene:10020 GNE
OMIM:603824 GNE
UCSC:Q9Y223 GNE
Reference Transcript
Other Identifiers
0006100735
10020
11721769_s_at
11750400_a_at
11751689_a_at
17093920
205042_at
3205107
3205109
3205110
3205111
3205112
3205113
3205114
3205120
3205121
3205122
3205124
3205125
3205126
3205127
3205130
3205132
3205133
3205134
3205137
3205138
3205143
36515_at
8161174
A_23_P216489
GE58366
GO:0000166
GO:0003674
GO:0003824
GO:0004553
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005737
GO:0005829
GO:0005975
GO:0006045
GO:0006047
GO:0006054
GO:0007155
GO:0008150
GO:0008152
GO:0008761
GO:0009058
GO:0009384
GO:0016301
GO:0016310
GO:0016740
GO:0016787
GO:0016798
GO:0016853
GO:0034641
GO:0043167
GO:0044281
GO:0046835
GO:0046872
ILMN_1664172
ILMN_1729417
PH_hs_0000598
TC09001068.hg
g6382074_3p_at
Participant Of
hasMember
Other forms of this molecule
GNE M712T [cytosol]
GNE R263L [cytosol]
GNE R266W [cytosol]
GNE R266Q [cytosol]
GNE A631V [cytosol]
GNE M171V [cytosol]
GNE C303V [cytosol]
GNE [cytosol]
Modified Residues
Name
L-valine 572 replaced with L-leucine
Coordinate
572
PsiMod
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
Disease
Name Identifier Synonyms
myopathy 423
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Orphanet
HMDB Protein
PDB
Interactors (3)
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