PIGK (phosphatidylinositol glycan anchor biosynthesis class K)

2007-04-01  

Identity

HGNC
LOCATION
1p31.1
LOCUSID
ALIAS
GPI8,NEDHCAS
FUSION GENES

Other Information

Locus ID:

NCBI: 10026
MIM: 605087
HGNC: 8965
Ensembl: ENSG00000142892

Variants:

dbSNP: 10026
ClinVar: 10026
TCGA: ENSG00000142892
COSMIC: PIGK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142892ENST00000359130A6NEM5
ENSG00000142892ENST00000370812Q92643
ENSG00000142892ENST00000445065B1AK81
ENSG00000142892ENST00000487906S4R3M5

Expression (GTEx)

0
5
10
15
20
25
30
35

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
333927782021Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.5
334969782021Subunits of the GPI transamidase complex localize to the endoplasmic reticulum and nuclear envelope in Drosophila.2
341937312021Hrd1-dependent Degradation of the Unassembled PIGK Subunit of the GPI Transamidase Complex.2
345769382021Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit.5
333927782021Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.5
334969782021Subunits of the GPI transamidase complex localize to the endoplasmic reticulum and nuclear envelope in Drosophila.2
341937312021Hrd1-dependent Degradation of the Unassembled PIGK Subunit of the GPI Transamidase Complex.2
345769382021Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit.5
322202902020Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.16
322202902020Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.16
279196192017Microsatellite polymorphism located immediately upstream of the phosphatidylinositol glycan, class K gene (PIGK) affects its expression, which correlates with tyrosinase activity in human melanocytes.1
279196192017Microsatellite polymorphism located immediately upstream of the phosphatidylinositol glycan, class K gene (PIGK) affects its expression, which correlates with tyrosinase activity in human melanocytes.1
228249182012A single nucleotide polymorphism in the human PIGK gene associates with low PIGK expression in colorectal cancer patients.4
228249182012A single nucleotide polymorphism in the human PIGK gene associates with low PIGK expression in colorectal cancer patients.4
125821752003Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge.34

Citation

Dessen P

PIGK (phosphatidylinositol glycan anchor biosynthesis class K)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47469/pigk-(phosphatidylinositol-glycan-anchor-biosynthesis-class-k)