phosphatidylinositol glycan anchor biosynthesis class K

Summary
Gene Symbol
  • PIGK
Aliases
  • GPI transamidase subunit
  • GPI-anchor transamidase
  • GPI8
  • GPI8 homolog (S. cerevisiae)
  • PIG-K
  • hGPI8
Organism
Homo sapiens (human)
External Links
NCBI Gene
10026
GGDB ID
HGNC
8965
mRNA
map
  • 1p31.1
Protein
OMIM
KEGG Gene ID
hsa:10026
PubChem
10026
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Endoplasmic reticulum
  • Epilepsy
  • GPI-anchor biosynthesis
  • Intellectual disability
  • Reference proteome
  • Signal
  • Thiol protease
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q92643
  • GPI8 homolog
  • Phosphatidylinositol-glycan biosynthesis class K protein
Gene Ontology (GO)
GlycoGene Database (GGDB)
GGDB ID
gg230
Gene Symbol
  • PIGK
KEGG BRITE Database
Orthology
K05290
Name
GPI-anchor transamidase subunit K
References
Disease
Disease Ontology
Displaying all 10 entries
DO ID Disease Name Source
DOID:0060058 lymphoma
DOID:0080199 colorectal carcinoma
DOID:162 cancer
DOID:3234 central nervous system lymphoma
DOID:3571 liver cancer
DOID:5672 large intestine cancer
DOID:5825 adult lymphoma
DOID:684 hepatocellular carcinoma
DOID:8675 obsolete ymphosarcoma
DOID:9256 colorectal cancer
The Human Phenotype Ontology
Displaying entries 1 - 10 of 17 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000219 Thin upper lip vermilion
HP:0000276 Long face
HP:0000678 Dental crowding
HP:0001156 Brachydactyly
HP:0001250 Seizure
HP:0001251 Ataxia
HP:0001263 Global developmental delay
HP:0001272 Cerebellar atrophy
HP:0001290 Generalized hypotonia
Displaying 1 entry
Disease ID Disease Name
OMIM:618879
  • neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001340
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class K

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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