PIGW - phosphatidylinositol glycan anchor biosynthesis class W Gene

Also Known as Gwt1; HPMRS5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 284098

About PIGW

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:36,534,987-36,539,303 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele, 190 orthologues and is associated with 4 phenotypes. Ubiquitous expression in appendix (RPKM 3.2), esophagus (RPKM 2.7) and 25 other tissues.

Summary

The protein encoded by this gene is an inositol Acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]

PIGW Products (3)

mRNA	Protein	Name
NM_001346754.2	NP_001333683.1	phosphatidylinositol-glycan biosynthesis class W protein
NM_001346755.2	NP_001333684.1	phosphatidylinositol-glycan biosynthesis class W protein
NM_178517.5	NP_848612.2	phosphatidylinositol-glycan biosynthesis class W protein

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	24367057	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

PIGW Protein Structure

GWT1

0
100
200
300
400
504 a.a.

Protein Preferred Names	Protein Names
phosphatidylinositol-glycan biosynthesis class W protein	GPI-anchored wall protein transfer 1 homolog

Related Diseases

Diseases	Alias
Glycosylphosphatidylinositol Biosynthesis Defect 11	GPIBD11 Hyperphosphatasia With Mental Retardation Syndrome 5 Hpmrs5 Hyperphosphatasia With Mental Retardation Syndrome, Type 5
Glycosylphosphatidylinositol Biosynthesis Defect 1	Glycosylphosphatidylinositol Deficiency Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency GPIBD1 Gpid Congenital Disorder Of Glycosylation Due To Pigm Deficiency Pigm-Cdg Portal Hypertension With Seizures And/Or Macrocephaly Gpi Deficiency
Hyperphosphatasia-Intellectual Disability Syndrome	Mabry Syndrome Hyperphosphatasia With Mental Retardation
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Fungal Meningitis	Meningitis, Fungal Mycotic Meningitis
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
Fusariosis	Fusarium Infection
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
Cryptococcal Meningitis	Meningitis, Cryptococcal Meningitis Cryptococcal
Chromosome 17q12 Deletion Syndrome	17q12 Microdeletion Syndrome Del(17)(Q12) Monosomy 17q12
Agnathia-Otocephaly Complex	Otocephaly Holoprosencephaly-Agnathia Dysgnathia Complex Agnathia-Holoprosencephaly AGOTC Agnathia-Holoprosencephaly-Situs Inversus Syndrome Dysgnathia Complex Agnathia-Holoprosencephaly Cervical Auricle
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
Myasthenic Syndrome, Congenital, 18	Congenital Myasthenic Syndrome 18 CMS18 Myasthenic Syndrome, Congenital, 18, With Intellectual Disability And Ataxia Myasthenic Syndrome, Congenital, 18 With Intellectual Disability And Ataxia Myasthenic Syndrome, Congenital, Type 18
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Pign-Cdg Congenital Disorder Of Glycosylation Due To Pign Deficiency Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Mcahs1
Otomycosis	Singapore Ear
Coccidioidomycosis	Valley Fever Primary Extrapulmonary Coccidioidomycosis Coccidioides Immitis Infection Coccidiosis Coccidioides Infection Coccidioidomycosis, Unspecified San Joaquin Fever California Disease Desert Fever Desert Rheumatism San Joaquin Valley Fever Enteric Coccidiosis Primary Pulmonary Coccidioidomycosis Acute Coccidioidomycosis Posadas Wernicke Disease
Mucormycosis	Zygomycosis Disseminated Mucormycosis Absidia Infection Absidia Mucoromycosis Cunninghamella Infection Cunninghamella Mucoromycosis Infection By Absidia Spp Infection By Rhizopus Spp Mucor Infection Mucor Mucoromycosis Infection By Mucor Spp Rhizopus Infection Rhizopus Mucoromycosis Infection By Cunninghamella Spp Phycomycosis Nos
Invasive Aspergillosis	Aspergillosis Invasive
Iris Disease	Iris Diseases
Diaphragm Disease	Abnormality Of The Diaphragm Disease Of Diaphragm Diaphragmatic Disorder Disorder Of Diaphragm
Opportunistic Mycosis	Opportunistic Mycoses Opportunistic Systemic Mycoses
Fungal Infectious Disease	Mycoses Mycosis
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
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
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

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-RS10505	PIGW Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PIGW	RGD	RGD:727962
Mus musculus	PIGW	MGD	MGI:1917575
Macaca mulatta	PIGW	VGNC	VGNC:75850
Bos taurus	PIGW	VGNC	VGNC:32881
Canis familiaris	PIGW	VGNC	VGNC:44545
Felis catus	PIGW	VGNC	VGNC:64171
Others	PIGW	NCBI