PGM1

GENE INFORMATION

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Gene name

PGM1

Synonyms

Description

Phosphoglucomutase 1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]

Chromosome

1

Cytoband

p31.3

Chromosome location (bp)

64058947 - 64125916

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000079739 (version 75.37)

Entrez gene

5236

UniProt

P36871 (UniProt - Evidence at protein level)

neXtProt

NX_P36871

Antibodypedia

PGM1 antibodies
 

PROTEIN VIEW

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PGM1-001
 
PGM1-002
 
PGM1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PGM1-001 ENSP00000360125
ENST00000371084
P36871
Show all »
Show » Show » 562 61.4 No 0
PGM1-002 ENSP00000360124
ENST00000371083
P36871
Show all »
Show » Show » 580 63.8 No 0
PGM1-201 ENSP00000443449
ENST00000540265
P36871
Show all »
Show » Show » 365 40.3 No 0