InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PIGM

Summary

InnateDB Protein

IDBP-103975.6

Last Modified

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

Gene Symbol

PIGM

Protein Name

phosphatidylinositol glycan anchor biosynthesis, class M

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000357069

InnateDB Gene

IDBG-103973 (PIGM)

Protein Structure

UniProt Annotation

Function

Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly. {ECO:0000269PubMed:11226175}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:11226175}; Multi-pass membrane protein {ECO:0000269PubMed:11226175}.

Disease Associations

Glycosylphosphatidylinositol deficiency (GPID) [MIM:610293]: Autosomal recessive trait that results in a propensity to venous thrombosis and seizures. Deficiency is due to a point mutation in the regulatory sequences of PIGM that disrupts binding of the transcription factor SP1 to its cognate promoter motif, leading to a strong reduction of expression. {ECO:0000269PubMed:16767100}. 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 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: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