Reactome | PMM2 D188G [cytosol]

PMM2 D188G [cytosol]

Stable Identifier

R-HSA-3781891

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Phosphomannomutase 2, PMM2_HUMAN

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External Reference Information

External Reference

UniProt:O15305 PMM2

Gene Names

PMM2

Chain

initiator methionine:, chain:2-246

Reference Genes

BioGPS Gene:5373 PMM2

COSMIC (genes):PMM2 PMM2

CTD Gene:5373 PMM2

dbSNP Gene:5373 PMM2

ENSEMBL:ENSG00000140650 PMM2

HGNC:9115 PMM2

KEGG:hsa:5373 PMM2

Monarch:5373 PMM2

NCBI Gene:5373 PMM2

OMIM:601785 PMM2

UCSC:O15305 PMM2

Reference Transcript

RefSeq:NM_000303.2 PMM2

Other Identifiers

11733001_a_at

11733002_s_at

11748329_a_at

11748330_s_at

11748331_x_at

11761251_at

16815756

203201_PM_at

203201_at

32028_at

3525177

3647497

3647498

3647500

3647502

3647503

3647505

3647506

3647508

3647509

3647510

3647511

3647512

3647513

3647514

3647515

3647516

3647533

3647534

3647535

3647542

3647543

3647544

3647545

3647546

3647547

3647548

3647550

3647551

3647553

3778888

3799330

5373

7993148

A_14_P111059

A_14_P121597

A_14_P123321

A_23_P432360

A_33_P3226228

GE79589

GE86711

GO:0003824

GO:0004615

GO:0005515

GO:0005654

GO:0005737

GO:0005829

GO:0005975

GO:0006013

GO:0006486

GO:0006487

GO:0009298

GO:0016853

GO:0019309

GO:0043025

GO:0046872

GO:0055086

GO:0061728

GO:0061729

GO:1901135

HMNXSV003000567

HMNXSV003035889

HMNXSV003043303

ILMN_1785336

PH_hs_0023742

TC16000149.hg

g4557838_3p_at

p6270

p6271

Participates

as a member of

PMM2 mutants [cytosol] (Homo sapiens)

Other forms of this molecule

PMM2 G117R [cytosol]

PMM2 R141H [cytosol]

PMM2 D65Y [cytosol]

PMM2 T237R [cytosol]

PMM2 [cytosol]

Modified Residues

Name

L-aspartic acid 188 replaced with glycine

Coordinate

188

PsiMod

L-aspartic acid removal [MOD:01634]

A protein modification that effectively removes or replaces an L-aspartic acid.

glycine residue [MOD:00017]

A protein modification that effectively converts a source amino acid residue to a glycine.

Disease

Name	Identifier	Synonyms
congenital disorder of glycosylation type I	DOID:0050570

Cross References

ENSEMBL

ENSP00000507262, ENST00000683274, ENSP00000268261, ENSP00000456774, ENST00000566604, ENST00000268261

OpenTargets

ENSG00000140650

ZINC - Substances

PMM2_HUMAN

ZINC target

O15305

PRO

O15305

GlyGen

O15305

PDB

7O4G, 7O1B, 7O58, 7O5Z, 2Q4R, 2AMY, 7O0C

IntEnz

5.4.2.8

HPA

ENSG00000140650-PMM2

Pharos - Targets

O15305

Orphanet

PMM2

ZINC - Predictions - Purchasable

PMM2_HUMAN

HMDB Protein

HMDBP01606

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