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GNE M712T [cytosol]
Stable Identifier
R-HSA-4088386
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, GLCNE_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
Defective GNE causes sialuria, NK and IBM2 (Homo sapiens)
Defective GNE does not hydrolyse UDP-GlcNAc (Homo sapiens)
GNE mutants [cytosol] (Homo sapiens)
GNE M712T [cytosol] (Homo sapiens)
Defective GNE does not phosphorylate ManNAc to ManNAc-6-P (Homo sapiens)
GNE mutants [cytosol] (Homo sapiens)
GNE M712T [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9Y223 GNE
Gene Names
GNE, GLCNE, IBM2
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
ENSEMBL_homo_sapiens_GENE:ENSG00000159921.20 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
RefSeq:XM_017014167.1 GNE
RefSeq:NM_001190384.1 GNE
RefSeq:NM_005476.5 GNE
RefSeq:NM_001190383.1 GNE
RefSeq:NM_001128227.2 GNE
RefSeq:NM_001190388.1 GNE
Other Identifiers
10020
11721769_s_at
11750400_a_at
11751689_a_at
17093920
205042_PM_at
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:0003824
GO:0004553
GO:0005515
GO:0005524
GO:0005737
GO:0005829
GO:0005975
GO:0006045
GO:0006047
GO:0006054
GO:0007155
GO:0008152
GO:0008761
GO:0009384
GO:0016301
GO:0016310
GO:0016740
GO:0016787
GO:0016853
GO:0046835
GO:0046872
GO:0055086
GO:0071704
GO:1901135
HMNXSV003000929
HMNXSV003051746
ILMN_1729417
PH_hs_0000598
TC09001068.hg
g6382074_3p_at
Participates
as a member of
GNE mutants [cytosol] (Homo sapiens)
Other forms of this molecule
GNE V572L [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-methionine 712 replaced with L-threonine
Coordinate
712
PsiMod
L-methionine removal [MOD:01643]
A protein modification that effectively removes or replaces an L-methionine.
L-threonine residue [MOD:00026]
A protein modification that effectively converts a source amino acid residue to L-threonine.
Disease
Name
Identifier
Synonyms
inclusion body myositis
DOID:3429
Inclusion body myositis (disorder), inclusion body myositis
Cross References
RefSeq
NP_001177317.1
,
NP_001177312.1
,
XP_016869656.1
,
NP_001177313.1
,
NP_005467.1
,
NP_001121699.1
OpenTargets
ENSG00000159921
HPA
ENSG00000159921-GNE
GeneCards
Q9Y223
Ensembl
ENSG00000159921
,
ENSP00000379839
,
ENSP00000414760
,
ENST00000539208
,
ENST00000642385
,
ENST00000447283
,
ENSP00000445117
,
ENST00000396594
,
ENSP00000494141
PRO
Q9Y223
Pharos - Targets
Q9Y223
Orphanet
16150
HMDB Protein
HMDBP00332
PDB
2YHW
,
3EO3
,
2YHY
,
2YI1
,
4ZHT
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P12814 ACTN1
3
ACTN1 [cytosol]
(R-HSA-354096)
ACTN1 [platelet alpha granule lumen]
(R-HSA-349724)
ACTN1 [extracellular region]
(R-HSA-349722)
0.591
3
UniProt:Q969Y2 GTPBP3
1
GTPBP3 [mitochondrial matrix]
(R-HSA-6787414)
0.556
3
UniProt:O43597 SPRY2
8
p-S111,S120-SPRY2 [cytosol]
(R-HSA-1295590)
p-Y55-SPRY2 [cytosol]
(R-HSA-182950)
SPRY2 [plasma membrane]
(R-HSA-182924)
SPRY2 [cytosol]
(R-HSA-182949)
p-S112,S115-SPRY2 [cytosol]
(R-HSA-1295619)
p-Y55,Y227-SPRY2 [plasma membrane]
(R-HSA-934555)
p-S112,S121-SPRY2 [plasma membrane]
(R-HSA-934595)
p-Y55,Y227-SPRY2 [plasma membrane]
(R-HSA-1295629)
0.556
3
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