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

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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 (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:0006006

GO:0006091

GO:0006094

GO:0006096

GO:0006810

GO:0008150

GO:0009056

GO:0009058

GO:0016192

GO:0016853

GO:0016868

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 [ficolin-1-rich granule lumen]

PGM1 [extracellular region]

PGM1 [tertiary granule lumen]

PGM1 [cytosol]

Modified Residues

Name

L-asparagine 38 replaced with L-tyrosine

Coordinate

PsiMod

L-tyrosine residue

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

L-asparagine removal [MOD:01633]

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

Disease

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

Cross References

RefSeq

NP_001166290.1, NP_002624.2, NP_001166289.1

OpenTargets

ENSG00000079739

HPA

ENSG00000079739-PGM1

GeneCards

P36871

Ensembl

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

PRO

P36871

Pharos - Targets

P36871

Orphanet

16651

GlyGen

P36871

HMDB Protein

HMDBP01107

PDB

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