InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PIGL

Summary

InnateDB Protein

IDBP-32088.5

Last Modified

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

Gene Symbol

PIGL

Protein Name

phosphatidylinositol glycan anchor biosynthesis, class L

Synonyms

CHIME;

Species

Homo sapiens

Ensembl Protein

ENSP00000225609

InnateDB Gene

IDBG-32086 (PIGL)

Protein Structure

UniProt Annotation

Function

Involved in the second step of GPI biosynthesis. De-N- acetylation of N-acetylglucosaminyl-phosphatidylinositol.

Subcellular Localization

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

Disease Associations

Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME) [MIM:280000]: An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. {ECO:0000269PubMed:22444671}. 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 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000225	N-acetylglucosaminylphosphatidylinositol deacetylase activity

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