phosphatidylinositol glycan anchor biosynthesis class T

Summary
Gene Symbol
  • PIGT
Aliases
  • GPI transamidase component PIG-T
  • GPI transamidase subunit
  • PIG-T
Organism
Homo sapiens (human)
External Links
NCBI Gene
51604
GGDB ID
HGNC
14938
mRNA
map
  • 20q12-q13.12, 20q13.12 (OMIM)
Protein
OMIM
KEGG Gene ID
hsa:51604
PubChem
51604
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Endoplasmic reticulum
  • Epilepsy
  • GPI-anchor biosynthesis
  • Glycoprotein
  • Reference proteome
  • Signal
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q969N2
  • Phosphatidylinositol-glycan biosynthesis class T protein
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
protein binding
GlycoGene Database (GGDB)
GGDB ID
gg233
Gene Symbol
  • PIGT
KEGG BRITE Database
Orthology
K05292
Name
GPI-anchor transamidase subunit T
References
Disease
Disease Ontology
Displaying entries 11 - 20 of 43 in total
DO ID Disease Name Source
DOID:12679 nephrocalcinosis
DOID:13174 dissociated nystagmus
DOID:13515 tuberous sclerosis
DOID:13832 patent ductus arteriosus
DOID:14213 hypophosphatasia
DOID:1432 blindness
DOID:14323 Marfan syndrome
DOID:1443 cerebral degeneration
DOID:1555 urticaria
DOID:1558 angioedema
The Human Phenotype Ontology
Displaying entries 41 - 50 of 110 in total
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0001272 Cerebellar atrophy
HP:0001290 Generalized hypotonia
HP:0001321 Cerebellar hypoplasia
HP:0001363 Craniosynostosis
HP:0001382 Joint hypermobility
HP:0001442 Typified by somatic mosaicism
HP:0001513 Obesity
HP:0001520 Large for gestational age
HP:0001627 Abnormal heart morphology
Displaying all 3 entries
Disease ID Disease Name
OMIM:615398
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
ORPHA:369837
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
OMIM:615399
  • paroxysmal nocturnal hemoglobinuria 2
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001664
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class T

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024