InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PIGO

Summary

InnateDB Protein

IDBP-61779.7

Last Modified

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

Gene Symbol

PIGO

Protein Name

phosphatidylinositol glycan anchor biosynthesis, class O

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000298004

InnateDB Gene

IDBG-61777 (PIGO)

Protein Structure

UniProt Annotation

Function

Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond (By similarity). {ECO:0000250}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.

Disease Associations

Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]: An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures. {ECO:0000269PubMed:22683086}. 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.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0003824	catalytic activity
GO:0008484	sulfuric ester hydrolase activity
GO:0016740	transferase activity
GO:0046872	metal ion binding

Biological Process

GO:0006501	C-terminal protein lipidation
GO:0006506	GPI anchor biosynthetic process
GO:0008152	metabolic process
GO:0016254	preassembly of GPI anchor in ER membrane
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process

Cellular Component

GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000917 Sulfatase
IPR002591 Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
IPR006124 Metalloenzyme
IPR017850 Alkaline-phosphatase-like, core domain

PFAM

PF00884
PF01663
PF01676

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8TEQ8

PhosphoSite