1. Gene
  2. PIGW - phosphatidylinositol glycan anchor biosynthesis class W Gene

PIGW - phosphatidylinositol glycan anchor biosynthesis class W Gene

Homo sapiens

Also known as Gwt1; HPMRS5

Gene ID: 284098 | Gene type: protein coding

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

PIGW Protein Structure

GWT1

GWT1: GWT1 (301 - 463)

  • 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

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