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PGM1 N38Y [cytosol]
Stable Identifier
R-HSA-5609926
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
phosphoglucomutase 1, Phosphoglucomutase , Glucose phosphomutase
Icon
Locations in the PathwayBrowser
Expand all
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
RefSeq:NM_001172818.1 PGM1
RefSeq:NM_002633.2 PGM1
RefSeq:NM_001172819.1 PGM1
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
38
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
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