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 41 - 43 of 43 in total
DO ID Disease Name Source
DOID:9834 hyperopia
DOID:9837 hypertropia
DOID:9840 esotropia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 110 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000071 Ureteral stenosis
HP:0000072 Hydroureter
HP:0000079 Abnormality of the urinary system
HP:0000107 Renal cyst
HP:0000110 Renal dysplasia
HP:0000121 Nephrocalcinosis
HP:0000164 Abnormality of the dentition
HP:0000194 Open mouth
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