PMM2 G117R [cytosol]

Stable Identifier
R-HSA-3781863
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Phosphomannomutase 2, PMM2_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
PMM2
Chain
initiator methionine:1, chain:2-246
Reference Transcript
Other Identifiers
0003290131
00051+5.4.2.8
00520+5.4.2.8
0102650398
11733001_a_at
11733002_s_at
11748329_a_at
11748330_s_at
11748331_x_at
16815756
203201_at
2AMY
2Q4R
32028_at
3647505
3647506
3647508
3647509
3647510
3647514
3647515
3647516
3647533
3647534
3647535
3647542
3647543
3647550
3778888
3799330
40852
5373
63649
7993148
A0A0S2Z4J6
A_14_P111059
A_23_P432360
AAC51368
AAD45895
AAH08310
AC012173
AF157790
AF157791
AF157792
AF157793
AF157794
AF157795
AF157796
AK291537
AK300785
ALQ33723
BAF84226
BAH13346
BC008310
CCDS10536
CH471112
EAW85200
EAW85201
EAW85202
EAW85203
ENSG00000140650
ENSP00000268261
ENSP00000456774
ENST00000268261
ENST00000268261.8
ENST00000566604
ENST00000566604.5
EntrezGene:5373
EntrezGene:PMM2
g4557838_3p_at
GE79589
GE86711
GO:0003674
GO:0004615
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005634
GO:0005737
GO:0005829
GO:0005975
GO:0006013
GO:0006464
GO:0006486
GO:0006487
GO:0006605
GO:0006810
GO:0008150
GO:0009058
GO:0009298
GO:0016853
GO:0034641
GO:0043025
GO:0043226
GO:0044281
GO:0045047
H3BM92
H3BNY9
H3BR08
H3BRM0
H3BT06
H3BV34
H3BV55
HGNC:9115
HPA040852
HPA063649
ILMN_1785336
IPR005002
IPR006379
IPR023214
IPR036412
KU178265
MIM:212065
MIM:601785
NM_000303
NP_000294
PF03332
PH_hs_0023742
PMM2
PMM2-201
PMM2-212
TC16000149.hg
U85773
UPI00000302B7
UPI0000EE6790
Participant Of
Other forms of this molecule
Modified Residues
Name
glycine 117 replaced with L-arginine
Coordinate
117
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-arginine.
A protein modification that effectively removes or replaces an glycine.
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
Cross References
RefSeq
OpenTargets
IntEnz
GeneCards
ZINC - Substances
ZINC target
PRO
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
PDB