InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GFPT1

Summary

InnateDB Protein

IDBP-54828.7

Last Modified

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

Gene Symbol

GFPT1

Protein Name

glutamine--fructose-6-phosphate transaminase 1

Synonyms

CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m; GFPT; GFPT1L; MSLG;

Species

Homo sapiens

Ensembl Protein

ENSP00000354347

InnateDB Gene

IDBG-54824 (GFPT1)

Protein Structure

UniProt Annotation

Function

Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1.

Subcellular Localization

Disease Associations

Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]: A congenital myasthenic syndrome characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors. {ECO:0000269PubMed:21310273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle. {ECO:0000269PubMed:11679416}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.

Experimentally validated
Total	24 [view]
Protein-Protein	23 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004360	glutamine-fructose-6-phosphate transaminase (isomerizing) activity
GO:0030246	carbohydrate binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006048	UDP-N-acetylglucosamine biosynthetic process
GO:0006112	energy reserve metabolic process
GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0006541	glutamine metabolic process
GO:0006987	activation of signaling protein activity involved in unfolded protein response
GO:0008152	metabolic process
GO:0016051	carbohydrate biosynthetic process
GO:0018279	protein N-linked glycosylation via asparagine
GO:0030968	endoplasmic reticulum unfolded protein response
GO:0032922	circadian regulation of gene expression
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process

Cellular Component

GO:0005829	cytosol
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000583 Class II glutamine amidotransferase domain
IPR001347 Sugar isomerase (SIS)
IPR005855 Glucosamine-fructose-6-phosphate aminotransferase, isomerising
IPR029055 Nucleophile aminohydrolases, N-terminal

PFAM

PF00310
PF13537
PF01380
PF13580

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q06210

PhosphoSite