InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GMPPA

Summary

InnateDB Protein

IDBP-81802.6

Last Modified

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

Gene Symbol

GMPPA

Protein Name

GDP-mannose pyrophosphorylase A

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000363016

InnateDB Gene

IDBG-81790 (GMPPA)

Protein Structure

UniProt Annotation

Function

May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose. {ECO:0000269PubMed:24035193}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:24035193}. Note=Myc-tagged GMPPA shows a diffuse cytoplasmic and nuclear pattern in transfected COS-7 cells.

Disease Associations

Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]: An autosomal recessive disorder characterized by onset of alacrima, achalasia, and mental retardation at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. {ECO:0000269PubMed:24035193}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in fibroblasts (at protein level). {ECO:0000269PubMed:24035193}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0016779	nucleotidyltransferase activity

Biological Process

GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0009058	biosynthetic process
GO:0009298	GDP-mannose biosynthetic process
GO:0018279	protein N-linked glycosylation via asparagine
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process