InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PMM2

Summary

InnateDB Protein

IDBP-13920.6

Last Modified

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

Gene Symbol

PMM2

Protein Name

phosphomannomutase 2

Synonyms

CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2;

Species

Homo sapiens

Ensembl Protein

ENSP00000268261

InnateDB Gene

IDBG-13918 (PMM2)

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. {ECO:0000250}.

Subcellular Localization

Cytoplasm.

Disease Associations

Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]: 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 1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. {ECO:0000269PubMed:10066032, ECO:0000269PubMed:10571956, ECO:0000269PubMed:10602363, ECO:0000269PubMed:10801058, ECO:0000269PubMed:11058895, ECO:0000269PubMed:11058896, ECO:0000269PubMed:11350185, ECO:0000269PubMed:12357336, ECO:0000269PubMed:15844218, ECO:0000269PubMed:17307006, ECO:0000269PubMed:9140401, ECO:0000269PubMed:9497260, ECO:0000269PubMed:9781039}. 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 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	3 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004615	phosphomannomutase activity

Biological Process

GO:0006486	protein glycosylation
GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0008152	metabolic process
GO:0009298	GDP-mannose biosynthetic process
GO:0018279	protein N-linked glycosylation via asparagine
GO:0019307	mannose biosynthetic process
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process