InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PGM1

Summary

InnateDB Protein

IDBP-99414.6

Last Modified

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

Gene Symbol

PGM1

Protein Name

phosphoglucomutase 1

Synonyms

CDG1T; GSD14;

Species

Homo sapiens

Ensembl Protein

ENSP00000360125

InnateDB Gene

IDBG-99412 (PGM1)

Protein Structure

UniProt Annotation

Function

This enzyme participates in both the breakdown and synthesis of glucose.

Subcellular Localization

Isoform 1: Cytoplasm.

Disease Associations

Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:19625727, ECO:0000269PubMed:22492991}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR005841 Alpha-D-phosphohexomutase superfamily
IPR005843 Alpha-D-phosphohexomutase, C-terminal
IPR005844 Alpha-D-phosphohexomutase, alpha/beta/alpha domain I
IPR005845 Alpha-D-phosphohexomutase, alpha/beta/alpha domain II
IPR005846 Alpha-D-phosphohexomutase, alpha/beta/alpha domain III
IPR016055 Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III

PFAM

PF00408
PF02878
PF02879
PF02880

PRINTS

PR00509

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P36871