PIGK (phosphatidylinositol glycan anchor biosynthesis class K)

2007-04-01  

Identity

HGNC
PIGK
LOCATION
1p31.1
LOCUSID
10026
ALIAS
GPI8,NEDHCAS
FUSION GENES
Show Gene Fusions

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
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
125821752003Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge.19
228249182012A single nucleotide polymorphism in the human PIGK gene associates with low PIGK expression in colorectal cancer patients.2
279196192017Microsatellite polymorphism located immediately upstream of the phosphatidylinositol glycan, class K gene (PIGK) affects its expression, which correlates with tyrosinase activity in human melanocytes.0
322202902020Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.0

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