InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POMGNT1

Summary

InnateDB Protein

IDBP-98092.6

Last Modified

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

Gene Symbol

POMGNT1

Protein Name

protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000361052

InnateDB Gene

IDBG-98086 (POMGNT1)

Protein Structure

UniProt Annotation

Function

Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O- Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity. {ECO:0000269PubMed:11709191}.

Subcellular Localization

Golgi apparatus membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.

Disease Associations

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]: An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269PubMed:11709191, ECO:0000269PubMed:12588800, ECO:0000269PubMed:15236414, ECO:0000269PubMed:15466003, ECO:0000269PubMed:17030669, ECO:0000269PubMed:19067344}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3) [MIM:613151]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase. {ECO:0000269PubMed:17030669, ECO:0000269PubMed:19067344, ECO:0000269PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3) [MIM:613157]: A rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha- dystroglycan. {ECO:0000269PubMed:18195152}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons. {ECO:0000269PubMed:11709191, ECO:0000269PubMed:11742540}.

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	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008375	acetylglucosaminyltransferase activity
GO:0047223	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity