Reactome | PGM1 N38Y [cytosol]

PGM1 N38Y [cytosol]

Stable Identifier

R-HSA-5609926

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

phosphoglucomutase 1, Phosphoglucomutase , Glucose phosphomutase

Locations in the PathwayBrowser

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Disease (Homo sapiens)

- Diseases of metabolism (Homo sapiens)
  - Diseases of glycosylation (Homo sapiens)
    - Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
      - Defective PGM1 causes PGM1-CDG (CDG1t) (Homo sapiens)
        
        Defective PGM1 does not isomerise G6P to G1P (Homo sapiens)
        
        PGM1 mutants:Mg2+ [cytosol] (Homo sapiens)
        
        PGM1 mutants [cytosol] (Homo sapiens)
        
        PGM1 N38Y [cytosol] (Homo sapiens)

External Reference Information

External Reference

UniProt:P36871 PGM1

Gene Names

PGM1

Chain

chain:1-562

Reference Genes

BioGPS Gene:5236 PGM1

COSMIC (genes):PGM1 PGM1

CTD Gene:5236 PGM1

dbSNP Gene:5236 PGM1

ENSEMBL:ENSG00000079739 PGM1

HGNC:8905 PGM1

KEGG Gene (Homo sapiens):5236 PGM1

Monarch:5236 PGM1

NCBI Gene:5236 PGM1

OMIM:171900 PGM1

UCSC:P36871 PGM1

Reference Transcript

Other Identifiers

0006770019

11748423_a_at

11756127_a_at

16665566

201968_s_at

2339787

2339788

2339789

2339794

2339795

2339796

2339799

2339800

2339802

2339804

2339806

2339807

2339808

2339811

2339814

2339819

2339827

2339828

2339829

2339830

2339832

32210_at

5236

7901951

A_14_P108033

A_23_P52031

GE58103

GO:0000287

GO:0002376

GO:0003674

GO:0004614

GO:0005515

GO:0005575

GO:0005576

GO:0005615

GO:0005622

GO:0005737

GO:0005829

GO:0005975

GO:0005978

GO:0005980

GO:0006006

GO:0006091

GO:0006094

GO:0006096

GO:0006810

GO:0008150

GO:0009056

GO:0009058

GO:0016192

GO:0016853

GO:0016868

GO:0019388

GO:0031410

GO:0034641

GO:0043167

GO:0043226

GO:0043312

GO:0044281

GO:0046872

GO:0070062

GO:0071704

GO:1904724

GO:1904813

HMNXSV003003190

ILMN_1800659

M83088_at

PH_hs_0000249

TC01000722.hg

g4505764_3p_a_at

Participates

as a member of

PGM1 mutants [cytosol] (Homo sapiens)

Other forms of this molecule

PGM1 T115A [cytosol]

PGM1 R221Vfs*13 [cytosol]

PGM1 D263Y [cytosol]

PGM1 D62H [cytosol]

PGM1 [cytosol]

PGM1 [ficolin-1-rich granule lumen]

PGM1 [extracellular region]

PGM1 [tertiary granule lumen]

Modified Residues

Name

L-asparagine 38 replaced with L-tyrosine

Coordinate

PsiMod

L-asparagine removal [MOD:01633]

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

L-tyrosine residue

A protein modification that effectively converts a source amino acid residue to L-tyrosine.

Disease

Name	Identifier	Synonyms
congenital disorder of glycosylation	DOID:5212	carbohydrate-deficient glycoprotein syndrome

Cross References

RefSeq

NP_001166290.1, NP_001166289.1, NP_002624.2

OpenTargets

ENSG00000079739

GeneCards

P36871

HPA

ENSG00000079739-PGM1

Ensembl

ENST00000371083, ENSG00000079739, ENST00000540265, ENST00000371084, ENSP00000443449, ENSP00000360125, ENSP00000360124

PRO

P36871

Orphanet

16651

HMDB Protein

HMDBP01107

PDB

6SNO, 5VIN, 5TR2, 6UIQ, 5VEC, 5EPC, 6SNP, 6UO6, 5VG7, 5F9C, 6SNQ, 5VBI, 5HSH, 5JN5