PIGQ - phosphatidylinositol glycan anchor biosynthesis class Q Gene

Homo sapiens

Also known as GPI1; DEE77; EIEE77; MCAHS4; GPIBD19; c407A10.1

Gene ID: 9091 | Gene type: protein coding

About PIGQ

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:569,968-584,109 (from NCBI)

This gene has 25 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 21.8), kidney (RPKM 15.6) and 25 other tissues.

Summary

This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

PIGQ Products(2)

mRNA	Protein	Name
NM_004204.5	NP_004195.2	phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 2
NM_148920.4	NP_683721.1	phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 1

PIGQ Protein Structure

Gpi1

0
200
400
600
760 a.a.

Protein Preferred Names

Protein Names

phosphatidylinositol N-acetylglucosaminyltransferase subunit Q

N-acetylglucosaminyl transferase component Gpi1

Related Diseases

Diseases

Alias

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4

MCAHS4	Glycosylphosphatidylinositol Biosynthesis Defect 19
Gpibd19	Developmental And Epileptic Encephalopathy 77
Epileptic Encephalopathy, Early Infantile, 77	Dee77
Eiee77	Developmental And Epileptic Encephalopathy, 77
Early Infantile Epileptic Encephalopathy 77	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-4

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

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

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Pign-Cdg	Congenital Disorder Of Glycosylation Due To Pign Deficiency
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Mcahs1

Developmental And Epileptic Encephalopathy 55

DEE55	Glycosylphosphatidylinositol Biosynthesis Defect 14
Gpibd14	Epileptic Encephalopathy, Early Infantile, 55
Eiee55	Developmental And Epileptic Encephalopathy, 55
Early Infantile Epileptic Encephalopathy 55	Encephalopathy, Epileptic, Early Infantile, Type 55

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

Alzheimer Disease 2

AD2	Alzheimer Disease Associated With Apoe4
Alzheimer'S Disease 2	Alzheimer Disease-2
Alzheimer Disease 2, Late-Onset	Alzheimer Disease 2, Late Onset
Late-Onset Alzheimer Disease	Alzheimer Disease, Type 2
Alzheimer Disease, Late Onset

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, 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

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

Acute Contagious Conjunctivitis

Pink Eye	Contagious Opthalmia
Pinkeye	Conjunctivitis
Keratoconjunctivitis Due To Mycoplasma Conjunctivae

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10499	PIGQ Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PIGQ	VGNC	VGNC:64166
Rattus norvegicus	PIGQ	RGD	RGD:1359535
Canis familiaris	PIGQ	VGNC	VGNC:44539
Mus musculus	PIGQ	MGD	MGI:1333114
Bos taurus	PIGQ	VGNC	VGNC:32875
Macaca mulatta	PIGQ	VGNC	VGNC:75798