GNE V572L

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
ENSEMBL:ENSG00000159921 GNE
HGNC:23657 GNE
KEGG Gene (Homo sapiens):hsa: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
27258
2YHW
2YHY
2YI1
3205109
3205110
3205111
3205112
3205113
3205114
3205120
3205121
3205122
3205124
3205125
3205126
3205127
3205130
3205132
3205133
3205134
3205137
3205143
36515_at
3EO3
4ZHT
7045
8161174
A_23_P216489
AAD32251
AAD38197
AAG31661
AAI21180
ABU55403
AF051852
AF155663
AF317635
AJ238764
AK295562
AK296687
AK312539
AL158830
AM697708
AM697709
BAG35438
BAH12108
BAH12414
BC121179
CAB42607
CAM91424
CAM91425
CCDS47965
CCDS55308
CCDS55309
CCDS55310
CCDS6602
CH471071
EAW58307
EAW58309
ENSG00000159921
ENSP00000367134
ENSP00000379839
ENSP00000414760
ENSP00000437765
ENSP00000439155
ENSP00000445117
ENST00000377902
ENST00000396594
ENST00000447283
ENST00000539208
ENST00000539815
ENST00000543356
EntrezGene:10020
EU093084
g6382074_3p_at
GNE
GNE-201
GNE-202
GNE-203
GNE-204
GNE-205
GNE-206
GO:0000166
GO:0003674
GO:0003824
GO:0004553
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005623
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
HGNC:23657
HPA007045
HPA027258
ILMN_1664172
ILMN_1729417
IPR000600
IPR003331
IPR020004
MIM:269921
MIM:603824
MIM:605820
NM_001128227
NM_001190383
NM_001190384
NM_001190388
NP_001121699
NP_001177312
NP_001177313
NP_001177317
PF00480
PF02350
PH_hs_0000598
PR00475
TC09001068.hg
uc010mlg.5
uc010mlh.5
uc010mli.4
uc010mlj.5
uc011lpl.4
uc064tap.1
UPI0000074037
UPI00002113D6
UPI00015C306E
UPI0001D8D93F
UPI0001D8D940
XM_005251334
XM_017014167
XP_005251391
XP_016869656
Participant Of
hasMember
Other forms of this molecule
GNE M712T [cytosol]
GNE R263L [cytosol]
GNE R266W [cytosol]
GNE R266Q [cytosol]
GNE A631V [cytosol]
GNE [cytosol]
GNE C303V [cytosol]
GNE M171V [cytosol]
Modified Residues
Name
L-valine 572 replaced with L-leucine
Coordinate
572
PsiMod HEY
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
GeneCards
DOCK Blaster
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein
PDB
Interactors (2)