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
Icon
GNE V572L [cytosol] icon
GNE V572L [cytosol] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:Q9Y223 GNE
Gene Names
GNE, GLCNE, IBM2
Chain
chain:1-722
Reference Genes
COSMIC (genes):GNE GNE
dbSNP Gene:10020 GNE
ENSEMBL:ENSG00000159921 GNE
Participates
as a member of
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-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
Disease
Name Identifier Synonyms
myopathy DOID:423
Interactors (4)
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