InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PIGV

Summary

InnateDB Protein

IDBP-94726.6

Last Modified

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

Gene Symbol

PIGV

Protein Name

phosphatidylinositol glycan anchor biosynthesis, class V

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000078527

InnateDB Gene

IDBG-94722 (PIGV)

Protein Structure

UniProt Annotation

Function

Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly. {ECO:0000269PubMed:15623507, ECO:0000269PubMed:15720390}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:15623507}; Multi-pass membrane protein {ECO:0000269PubMed:15623507}.

Disease Associations

Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]: A severe syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. {ECO:0000269PubMed:20802478}. 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 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [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:0016758	transferase activity, transferring hexosyl groups

Biological Process

GO:0006501	C-terminal protein lipidation
GO:0006506	GPI anchor biosynthetic process
GO:0016254	preassembly of GPI anchor in ER membrane
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0097502	mannosylation