InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POMT1

Summary

InnateDB Protein

IDBP-382848.4

Last Modified

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

Gene Symbol

POMT1

Protein Name

protein-O-mannosyltransferase 1

Synonyms

LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT;

Species

Homo sapiens

Ensembl Protein

ENSP00000404119

InnateDB Gene

IDBG-89966 (POMT1)

Protein Structure

UniProt Annotation

Function

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. {ECO:0000269PubMed:12369018, ECO:0000269PubMed:14699049}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:14699049}; Multi-pass membrane protein {ECO:0000269PubMed:14699049}.

Disease Associations

Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. {ECO:0000269PubMed:16575835, ECO:0000269PubMed:16717220, ECO:0000269PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269PubMed:12369018, ECO:0000269PubMed:15037715, ECO:0000269PubMed:15637732, ECO:0000269PubMed:16575835}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308]: An autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha- dystroglycan pattern in observed in the muscle. {ECO:0000269PubMed:15792865}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

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

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000030	mannosyltransferase activity
GO:0004169	dolichyl-phosphate-mannose-protein mannosyltransferase activity
GO:0046872	metal ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006493	protein O-linked glycosylation
GO:0007275	multicellular organismal development
GO:0035269	protein O-linked mannosylation
GO:0097502	mannosylation