InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PIGN

Summary

InnateDB Protein

IDBP-228510.6

Last Modified

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

Gene Symbol

PIGN

Protein Name

phosphatidylinositol glycan anchor biosynthesis, class N

Synonyms

MCAHS; MCAHS1; MCD4; MDC4; PIG-N;

Species

Homo sapiens

Ensembl Protein

ENSP00000383188

InnateDB Gene

IDBG-4243 (PIGN)

Protein Structure

UniProt Annotation

Function

Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation. {ECO:0000250, ECO:0000269PubMed:23446422}.

Subcellular Localization

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

Disease Associations

Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM:614080]: An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. {ECO:0000269PubMed:21493957}. 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 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	5 [view]
Protein-DNA	3 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0008484	sulfuric ester hydrolase activity
GO:0016740	transferase activity

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
IPR017850 Alkaline-phosphatase-like, core domain
IPR017852 GPI ethanolamine phosphate transferase 1, C-terminal

PFAM

PF00884
PF01663
PF04987

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O95427

PhosphoSite