InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MPI

Summary

InnateDB Protein

IDBP-22819.7

Last Modified

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

Gene Symbol

MPI

Protein Name

mannose phosphate isomerase

Synonyms

CDG1B; PMI; PMI1;

Species

Homo sapiens

Ensembl Protein

ENSP00000318192

InnateDB Gene

IDBG-22813 (MPI)

Protein Structure

UniProt Annotation

Function

Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

Subcellular Localization

Cytoplasm {ECO:0000305}.

Disease Associations

Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]: 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. Congenital disorder of glycosylation type 1B is clinically characterized by protein- losing enteropathy. {ECO:0000269PubMed:10980531, ECO:0000269PubMed:11134235, ECO:0000269PubMed:11350186, ECO:0000269PubMed:12357336, ECO:0000269PubMed:12414827, ECO:0000269PubMed:9525984, ECO:0000269PubMed:9585601}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in all tissues, but more abundant in heart, brain and skeletal muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004476	mannose-6-phosphate isomerase activity
GO:0008270	zinc ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006488	dolichol-linked oligosaccharide 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