PIGA - phosphatidylinositol glycan anchor biosynthesis class A Gene

Also Known as GPI3; PNH1; PIG-A; MCAHS2; NEDEPH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5277

About PIGA

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:15,319,451-15,335,554 (from NCBI)

This gene has 19 transcripts (splice variants), 213 orthologues, 3 paralogues and is associated with 9 phenotypes. Ubiquitous expression in bone marrow (RPKM 9.8), urinary bladder (RPKM 3.0) and 24 other tissues.

Summary

This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]

PIGA Products (2)

mRNA	Protein	Name
NM_002641.4	NP_002632.1	phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1
NM_020473.3	NP_065206.3	phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 3

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	8900170	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16162815	GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA IDA: Inferred from direct assay	16162815	GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI IPI: Inferred from physical interaction	16162815	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

PIGA Protein Structure

PIGA

Glycos_transf_1

0
100
200
300
400
484 a.a.

Protein Preferred Names	Protein Names
phosphatidylinositol N-acetylglucosaminyltransferase subunit A	GLCNAC-PI synthesis protein

PIGA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	PIGA	P37287	PIGP	Homo sapiens	P57054	Anti Tag CoIP	10944123
Intra	PIGA	P37287	PIGP	Homo sapiens	P57054	TAP	16162815
Intra	PIGA	P37287	PIGQ	Homo sapiens	Q9BRB3	TAP	16162815
Intra	PIGA	P37287	PIGQ	Homo sapiens	Q9BRB3	Anti Tag CoIP	10944123
Intra	PIGA	P37287	PIGQ	Homo sapiens	Q9BRB3	Pull Down	16162815
Intra	PIGA	P37287	PIGQ	Homo sapiens	Q9BRB3	Anti Tag CoIP	9463366
Intra	PIGA	P37287	PIGH	Homo sapiens	Q14442	Anti Tag CoIP	10944123
Intra	PIGA	P37287	PIGH	Homo sapiens	Q14442	Pull Down	8900170
Intra	PIGA	P37287	PIGH	Homo sapiens	Q14442	TAP	16162815
Intra	PIGA	P37287	PIGY	Homo sapiens	Q3MUY2	Pull Down	16162815
Intra	PIGA	P37287	PIGY	Homo sapiens	Q3MUY2	TAP	16162815
Intra	PIGA	P37287	DPM2	Homo sapiens	O94777	TAP	16162815
Intra	PIGA	P37287	DPM2	Homo sapiens	O94777	Anti Tag CoIP	10944123

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ferro-Cerebro-Cutaneous Syndrome NEDEPH Fccs Cerebro-Cutaneous Syndrome With Iron Overload
Paroxysmal Nocturnal Hemoglobinuria 1	PNH1 Paroxysmal Nocturnal Hemoglobinuria, Somatic
Paroxysmal Nocturnal Hemoglobinuria	Marchiafava-Micheli Disease Pnh Hemoglobinuria, Paroxysmal Marchiafava-Micheli Syndrome Paroxysmal Hemoglobinuria Nocturnal Nocturnal Haemoglobinuria Nocturnal Paroxysmal Haematuria Nocturnal Paroxysmal Haemoglobinaemia
Developmental And Epileptic Encephalopathy 14	Malignant Migrating Partial Seizures Of Infancy Eiee14 Epilepsy Of Infancy With Migrating Focal Seizures Mmpsi DEE14 Epileptic Encephalopathy, Early Infantile, 14 Early Infantile Epileptic Encephalopathy 14 Malignant Migrating Partial Epilepsy Of Infancy Migrating Partial Epilepsy Of Infancy Migrating Partial Seizures Of Infancy Mmpei Mpei Mpsi Malignant Migrating Focal Seizures Of Infancy Migrating Partial Seizures In Infancy Developmental And Epileptic Encephalopathy, 14 Encephalopathy, Epileptic, Early Infantile, Type 14
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
Hemoglobinuria
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Pign-Cdg Congenital Disorder Of Glycosylation Due To Pign Deficiency Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Mcahs1
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Aneurysm, Intracranial Berry, 12	ANIB12 Intracranial Berry Aneurysm 12
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
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Vulvar Angiokeratoma	Fordyce Angiokeratoma Of Vulva Angiokeratoma Of Vulva
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
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
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	MCAHS1 Glycosylphosphatidylinositol Biosynthesis Defect 3 Gpibd3 Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1
Simpson-Golabi-Behmel Syndrome, Type 2	Simpson-Golabi-Behmel Syndrome Type 2 SGBS2 Simpson-Golabi-Behmel Syndrome 2
Developmental And Epileptic Encephalopathy 38	DEE38 Epileptic Encephalopathy, Early Infantile, 38 Eiee38 Developmental And Epileptic Encephalopathy, 38 Glycosylphosphatidylinositol Biosynthesis Defect 23 Gpibd23 Early Infantile Epileptic Encephalopathy 38
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
Hypotonia
Vexas Syndrome	VEXAS Vexas Syndrome, Somatic Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory And Somatic Syndrome Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic
Budd-Chiari Syndrome	Hepatic Vein Thrombosis Chiari Syndrome BDCHS Membranous Obstruction Of The Inferior Vena Cava Budd-Chiari Syndrome, Somatic Movc Budd-Chiari Syndrome, Susceptibility To, Somatic Budd-Chiari Syndrome, Susceptibility To Membranous Obstruction Of Inferior Vena Cava Hepatic Vein Block Obstruction Of Hepatic Veins Hepatic Vein Obstruction Hepatic Venous Block
Hemolytic Uremic Syndrome, Atypical 1	Atypical Hemolytic-Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To Ahus AHUS1 Hemolytic-Uremic Syndrome Ahus 1 Ahus, Susceptibility To, 1 Hemolytic Uremic Syndrome, Atypical Non-Shiga-Like Toxin-Associated Hus Non-Stx-Hus Nonenteropathic Hus Atypical Hus Shiga Toxin-Associated Hemolytic Uremic Syndrome D+ Hus Ehec-Hus Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli Hemolytic Uremic Syndrome With Diarrhea Stec-Hus Shiga-Like Toxin-Associated Hus Stx-Hus Typical Hus Typical Hemolytic Uremic Syndrome Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies Atypical Hus With Anti-Factor H Antibodies Ahus With Anti-Factor H Antibodies Ahus With Neutralizing Autoantibodies Against Factor H Hemolytic Uremic Syndrome Atypical 1 Atypical Hemolytic Uremic Syndrome With H Factor Anomaly D Hus Hemolytic-Uremic Syndrome Without Diarrhea Hemolytic-Uremic Syndrome, Atypical, Type 1 Hemolytic Uremic Syndrome, Typical
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
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS10487	PIGA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PIGA	VGNC	VGNC:75984
Mus musculus	PIGA	MGD	MGI:99461
Bos taurus	PIGA	VGNC	VGNC:32867
Felis catus	PIGA	VGNC	VGNC:68842
Rattus norvegicus	PIGA	RGD	RGD:1589723
Others	PIGA	NCBI