InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALG12

Summary

InnateDB Protein

IDBP-12586.6

Last Modified

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

Gene Symbol

ALG12

Protein Name

asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000333813

InnateDB Gene

IDBG-12584 (ALG12)

Protein Structure

UniProt Annotation

Function

Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP- Man(7)GlcNAc(2)) required for protein glycosylation.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]: 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. {ECO:0000269PubMed:11983712, ECO:0000269PubMed:12736397, ECO:0000269PubMed:17506107}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in fibroblasts.

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:0000009	alpha-1,6-mannosyltransferase activity
GO:0016757	transferase activity, transferring glycosyl groups
GO:0052917	dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity

Biological Process

GO:0006457	protein folding
GO:0006487	protein N-linked glycosylation
GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0018279	protein N-linked glycosylation via asparagine
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0097502	mannosylation