PIGT (phosphatidylinositol glycan anchor biosynthesis class T)

2007-04-01  

Identity

HGNC
PIGT
LOCATION
20q13.12
LOCUSID
51604
ALIAS
CGI-06,MCAHS3,NDAP,PNH2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51604
MIM: 610272
HGNC: 14938
Ensembl: ENSG00000124155

Variants:

dbSNP: 51604
ClinVar: 51604
TCGA: ENSG00000124155
COSMIC: PIGT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124155ENST00000279035Q969N2
ENSG00000124155ENST00000279036Q969N2
ENSG00000124155ENST00000372689Q969N2
ENSG00000124155ENST00000424705A0A1W2PQA4
ENSG00000124155ENST00000432270H7C2Y2
ENSG00000124155ENST00000455050B7Z7C5
ENSG00000124155ENST00000543458Q969N2
ENSG00000124155ENST00000545755Q969N2
ENSG00000124155ENST00000638246B7Z7C5
ENSG00000124155ENST00000638277A0A1W2PPK4
ENSG00000124155ENST00000638353A0A1W2PQ52
ENSG00000124155ENST00000638383A0A1W2PRG1
ENSG00000124155ENST00000638387A0A1W2PRV7
ENSG00000124155ENST00000638415A0A1W2PQ50
ENSG00000124155ENST00000638445A0A1W2PP98
ENSG00000124155ENST00000638478A0A1W2PP13
ENSG00000124155ENST00000638489A0A1W2PPI8
ENSG00000124155ENST00000638594A0A1W2PPS0
ENSG00000124155ENST00000638612A0A1W2PPC3
ENSG00000124155ENST00000638671A0A1W2PQI9
ENSG00000124155ENST00000638691A0A1W2PR73
ENSG00000124155ENST00000638710A0A1W2PP91
ENSG00000124155ENST00000638714A0A1W2PP03
ENSG00000124155ENST00000638745A0A1W2PQI9
ENSG00000124155ENST00000638927A0A1W2PQY1
ENSG00000124155ENST00000638938A0A1W2PNZ5
ENSG00000124155ENST00000638953A0A1W2PNZ5
ENSG00000124155ENST00000638978A0A1W2PRZ8
ENSG00000124155ENST00000639194A0A1W2PQL9
ENSG00000124155ENST00000639235A0A1W2PRH2
ENSG00000124155ENST00000639239A0A1W2PSC5
ENSG00000124155ENST00000639286A0A1W2PR70
ENSG00000124155ENST00000639292A0A1W2PPR6
ENSG00000124155ENST00000639382A0A1W2PPQ7
ENSG00000124155ENST00000639417A0A1W2PNS2
ENSG00000124155ENST00000639499A0A1W2PP57
ENSG00000124155ENST00000639783A0A1W2PQL3
ENSG00000124155ENST00000639932A0A1W2PPU8
ENSG00000124155ENST00000639984A0A1W2PRL6
ENSG00000124155ENST00000640107A0A1W2PNW9
ENSG00000124155ENST00000640108A0A1W2PR22
ENSG00000124155ENST00000640123A0A1W2PR34
ENSG00000124155ENST00000640175A0A1W2PRB4
ENSG00000124155ENST00000640194B7Z7C5
ENSG00000124155ENST00000640210A0A1W2PP53
ENSG00000124155ENST00000640272A0A1W2PRH8
ENSG00000124155ENST00000640324A0A1W2PNP0
ENSG00000124155ENST00000640542A0A1W2PR92
ENSG00000124155ENST00000640549A0A1W2PQN1
ENSG00000124155ENST00000640585A0A1W2PNZ5
ENSG00000124155ENST00000640666A0A1W2PPC3
ENSG00000124155ENST00000640692A0A1W2PQ29
ENSG00000124155ENST00000640986A0A1W2PQ29
ENSG00000124155ENST00000640996A0A1W2PNZ5

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGko00563
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGhsa00563
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125
Attachment of GPI anchor to uPARREACTOMER-HSA-162791

References

Pubmed IDYearTitleCitations
336202842021Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3.1
336202842021Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3.1
327256612020Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.5
327256612020Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.5
287288372018Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.13
287288372018Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.13
283275752017Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.41
283275752017Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.41
236361072013A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.57
237333402013A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.37
236361072013A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.57
237333402013A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.37
157136692005Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex.2
157136692005Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex.2
125821752003Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge.34

Citation

Dessen P

PIGT (phosphatidylinositol glycan anchor biosynthesis class T)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47494