InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PGM1

Summary

InnateDB Gene

IDBG-99412.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PGM1

Gene Name

phosphoglucomutase 1

Synonyms

CDG1T; GSD14

Species

Homo sapiens

Ensembl Gene

ENSG00000079739

Encoded Proteins

IDBP-99414

phosphoglucomutase 1

IDBP-99416

phosphoglucomutase 1

IDBP-590048

phosphoglucomutase 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:63593276-63660245

Strand

Forward strand

Band

p31.3

Transcripts

ENST00000371084	ENSP00000360125
ENST00000371083	ENSP00000360124
ENST00000473117
ENST00000483707
ENST00000540265	ENSP00000443449

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.

Experimentally validated
Total	25 [view]
Protein-Protein	24 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000287	magnesium ion binding
GO:0004614	phosphoglucomutase activity
GO:0016868	intramolecular transferase activity, phosphotransferases

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0005978	glycogen biosynthetic process
GO:0005980	glycogen catabolic process
GO:0006006	glucose metabolic process
GO:0006094	gluconeogenesis
GO:0006096	glycolytic process
GO:0019388	galactose catabolic process
GO:0044281	small molecule metabolic process