PIGT - phosphatidylinositol glycan anchor biosynthesis class T Gene

Also Known as NDAP; PNH2; PIG-T; CGI-06; MCAHS3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51604

About PIGT

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:45,416,141-45,426,241 (from NCBI)

This gene has 77 transcripts (splice variants), 211 orthologues and is associated with 4 phenotypes. Ubiquitous expression in heart (RPKM 45.9), colon (RPKM 41.3) and 25 other tissues.

Summary

This gene encodes a protein that is involved 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 protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

PIGT Products (4)

mRNA	Protein	Name
NM_001184728.3	NP_001171657.1	GPI transamidase component PIG-T isoform 2 precursor
NM_001184729.3	NP_001171658.1	GPI transamidase component PIG-T isoform 3 precursor
NM_001184730.3	NP_001171659.1	GPI transamidase component PIG-T isoform 4 precursor
NM_015937.6	NP_057021.2	GPI transamidase component PIG-T isoform 1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11483512	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of GPI-anchor transamidase complex	IDA IDA: Inferred from direct assay	11483512	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

PIGT Protein Structure

Gpi16

0
100
200
300
400
500
578 a.a.

Protein Preferred Names	Protein Names
GPI transamidase component PIG-T	GPI transamidase subunit

PIGT Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PIGT	Q969N2	PIGS	Homo sapiens	Q96S52	Anti Tag CoIP	33961781
Intra	PIGT	Q969N2	PIGS	Homo sapiens	Q96S52	Anti Tag CoIP	11483512
Intra	PIGT	Q969N2	GPAA1	Homo sapiens	O43292	Anti Tag CoIP	11483512
Intra	PIGT	Q969N2	GPAA1	Homo sapiens	O43292	Anti Tag CoIP	33961781
Intra	PIGT	Q969N2	PIGK	Homo sapiens	Q92643	Anti Tag CoIP	11483512
Intra	PIGT	Q969N2	PIGK	Homo sapiens	Q92643	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Paroxysmal Nocturnal Hemoglobinuria 2	PNH2 Hemoglobinuria, Nocturnal, Paroxysmal, Type 2
Paroxysmal Nocturnal Hemoglobinuria	Marchiafava-Micheli Disease Pnh Hemoglobinuria, Paroxysmal Marchiafava-Micheli Syndrome Paroxysmal Hemoglobinuria Nocturnal Nocturnal Haemoglobinuria Nocturnal Paroxysmal Haematuria Nocturnal Paroxysmal Haemoglobinaemia
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
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
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
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
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
Salt And Pepper Syndrome	Salt & Pepper Syndrome Salt-And-Pepper Syndrome
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
Hypophosphatasia	Phosphoethanolaminuria Childhood Hypophosphatasia Deficiency Of Alkaline Phosphatase Hypophospatasia, Childhood Hypophosphatasia Mild Phosphoethanol-Aminuria Rathburn Disease Hpp Rathbun Disease Hypophosphatasia, Childhood Infantile Hypophosphatasia
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
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy

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-RS10502	PIGT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PIGT	VGNC	VGNC:32878
Felis catus	PIGT	VGNC	VGNC:64168
Canis familiaris	PIGT	VGNC	VGNC:44542
Mus musculus	PIGT	MGD	MGI:1926178
Macaca mulatta	PIGT	VGNC	VGNC:75801
Rattus norvegicus	PIGT	RGD	RGD:1307156
Others	PIGT	NCBI