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PMM2 D65Y

Stable Identifier
R-HSA-3781903
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
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
3778888
3799330
40852
5373
63649
7993148
A0A0S2Z4J6
A_23_P432360
CCDS10536
ENSG00000140650
ENSP00000268261
ENSP00000456774
ENST00000268261
ENST00000566604
EntrezGene:5373
g4557838_3p_at
GE79589
GO:0004615
GO:0005515
GO:0005634
GO:0005737
GO:0005829
GO:0006013
GO:0006486
GO:0006487
GO:0009298
GO:0016853
GO:0043025
GO:0045047
GO:0070062
H3BV34
HGNC:9115
HPA040852
HPA063649
Hs.625732
ILMN_1785336
MIM:212065
MIM:601785
NM_000303
NP_000294
PF03332
PH_hs_0023742
PMM2
PMM2-201
PMM2-212
PWY-5659
PWY-7456
PWY-7586
PWY-882
TC16000149.hg
uc002czf.5
uc059qpf.1
UPI00000302B7
UPI0000EE6790
Participant Of
Other forms of this molecule
Modified Residues
Name
L-aspartic acid 65 replaced with L-tyrosine
Coordinate
65
PsiMod HEY
A protein modification that effectively converts a source amino acid residue to L-tyrosine.
A protein modification that effectively removes or replaces an L-aspartic acid.
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
Cross References
RefSeq
Brenda
GeneCards
ZINC - Substances
DOCK Blaster
ZINC target
PRO
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
PDB