InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GMPPB

Summary

InnateDB Protein

IDBP-474677.3

Last Modified

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

Gene Symbol

GMPPB

Protein Name

GDP-mannose pyrophosphorylase B

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000418565

InnateDB Gene

IDBG-35367 (GMPPB)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:23768512}.

Disease Associations

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction. {ECO:0000269PubMed:23768512}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14) [MIM:615351]: A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. {ECO:0000269PubMed:23768512}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]: An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures. {ECO:0000269PubMed:23768512}. 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 13 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004475	mannose-1-phosphate guanylyltransferase activity
GO:0005525	GTP binding
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