PIGL - phosphatidylinositol glycan anchor biosynthesis class L Gene

Also Known as CHIME

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9487

About PIGL

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:16,217,210-16,326,411 (from NCBI)

This gene has 17 transcripts (splice variants), 201 orthologues and is associated with 5 phenotypes. Ubiquitous expression in duodenum (RPKM 4.7), skin (RPKM 4.2) and 25 other tissues.

Summary

This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

PIGL Products (2)

mRNA	Protein	Name
NM_001411072.1	NP_001398001.1	N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform 2 precursor
NM_004278.4	NP_004269.1	N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform 1 precursor

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in GPI anchor biosynthetic process	IMP IMP: Inferred from mutant phenotype	10085243	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	14742432	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIGL Protein Structure

PIG-L

0
100
200
252 a.a.

Protein Preferred Names	Protein Names
N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase	N-acetylglucosaminylphosphatidylinositol deacetylase

Related Diseases

Diseases	Alias
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome	Chime Syndrome Zunich Neuroectodermal Syndrome Zunich-Kaye Syndrome CHIME Glycosylphosphatidylinositol Biosynthesis Defect 5 Gpibd5 Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome Congenital Disorder Of Glycosylation Due To Pigl Deficiency Neuroectodermal Dysplasia, Chime Type Neuroectodermal Syndrome, Zunich Type Pigl-Cdg Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability And Ear Anomalies Syndrome Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, And Ear Anomalies Syndrome
Hyperphosphatasia-Intellectual Disability Syndrome	Mabry Syndrome Hyperphosphatasia With Mental Retardation
Hyperphosphatasia With Mental Retardation Syndrome 1	Mabry Syndrome Hyperphosphatasia With Intellectual Disability Syndrome 1 HPMRS1 Glycosylphosphatidylinositol Biosynthesis Defect 2 Gpibd2 Hyperphosphatasia With Mental Retardation Syndrome Hyperphosphatasia With Seizures And Neurologic Deficit Hyperphosphatasia, With Mental Retardation Syndrome, Type 1 Hyperphosphatasia With Mental Retardation
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	MCAHS1 Glycosylphosphatidylinositol Biosynthesis Defect 3 Gpibd3 Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1
Bleeding Disorder, Platelet-Type, 9	Platelet-Type Bleeding Disorder 9 Glycoprotein Ia Deficiency BDPLT9 Gp Ia Deficiency Collagen Platelet Receptor Deficiency Bleeding Diathesis Due To Integrin Alpha2-Beta1 Deficiency Bleeding Disorder, Platelet Type 9
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A2 Mddga2 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt2-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A2
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Pign-Cdg Congenital Disorder Of Glycosylation Due To Pign Deficiency Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Mcahs1
Anterior Segment Dysgenesis 4	Iridogoniodysgenesis Syndrome Iridogoniodysgenesis, Type 2 Irid2 Iridogoniodysgenesis Type 2 ASGD4 Igds Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant Ihga Irid 1 Irid 2 Iridogoniodysgenesis Type 1 Igds2 Iridogoniodysgenesis Syndrome 2 Iridogoniodysgenesis, Type 1
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	MCAHS2 Glycosylphosphatidylinositol Biosynthesis Defect 4 Developmental And Epileptic Encephalopathy 20 Epileptic Encephalopathy, Early Infantile, 20 Eiee20 Gpibd4 Early Infantile Epileptic Encephalopathy 20 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2 Mcahs Type 2 Dee20 Fccs Ferro-Cerebro-Cutaneous Syndrome Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 2
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Congenital Muscular Dystrophy With Cataracts And Intellectual Disability MDCCAID
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	MCAHS3 Glycosylphosphatidylinositol Biosynthesis Defect 7 Gpibd7 Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome Congenital Disorder Of Glycosylation Due To Pigt Deficiency Mcahs Type 3 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 Pigt-Cdg Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 3
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10494	PIGL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PIGL	VGNC	VGNC:75989
Canis familiaris	PIGL	VGNC	VGNC:44536
Felis catus	PIGL	VGNC	VGNC:68846
Bos taurus	PIGL	VGNC	VGNC:32871
Mus musculus	PIGL	MGD	MGI:2681271
Rattus norvegicus	PIGL	RGD	RGD:620437
Others	PIGL	NCBI