PIGT - phosphatidylinositol glycan anchor biosynthesis class T Gene

Homo sapiens

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

Gene ID: 51604 | Gene type: protein coding

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

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10502	PIGT Human Pre-designed siRNA Set A		/	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