phosphatidylinositol glycan anchor biosynthesis class L

Summary
Gene Symbol
  • PIGL
Aliases
  • N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase
  • N-acetylglucosaminylphosphatidylinositol deacetylase
  • PIG-L
Organism
Homo sapiens (human)
External Links
NCBI Gene
9487
GGDB ID
HGNC
8966
mRNA
map
  • 17p12-p11.2, 17p11.2 (OMIM)
Protein
OMIM
KEGG Gene ID
hsa:9487
PubChem
9487
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Deafness
  • Disease variant
  • Endoplasmic reticulum
  • GPI-anchor biosynthesis
  • Hydrolase
  • Ichthyosis
  • Intellectual disability
  • Lipid metabolism
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9Y2B2
  • Phosphatidylinositol-glycan biosynthesis class L protein
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000108474

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

GlycoGene Database (GGDB)
GGDB ID
gg219
Gene Symbol
  • PIGL
KEGG BRITE Database
Orthology
K03434
Name
N-acetylglucosaminylphosphatidylinositol deacetylase [EC:3.5.1.89]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R05917
Disease
Disease Ontology
Displaying entries 1 - 10 of 78 in total
DO ID Disease Name Source
DOID:0080207 CAKUT2
DOID:0110213 isolated cleft palate
DOID:0050428 nonepidermolytic palmoplantar keratoderma
DOID:0050429 Hailey-Hailey disease
DOID:0050591 tooth agenesis
DOID:0050841 focal hand dystonia
DOID:0060216 Cogan syndrome
DOID:0060249 scoliosis
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
The Human Phenotype Ontology
Displaying entries 1 - 10 of 152 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000034 Hydrocele testis
HP:0000074 Ureteropelvic junction obstruction
HP:0000077 Abnormality of the kidney
HP:0000081 Duplicated collecting system
HP:0000098 Tall stature
HP:0000126 Hydronephrosis
HP:0000154 Wide mouth
HP:0000164 Abnormality of the dentition
Displaying all 3 entries
Disease ID Disease Name
OMIM:280000
  • CHIME syndrome
ORPHA:3474
  • CHIME syndrome
ORPHA:247262
  • hyperphosphatasia-intellectual disability syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001992
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class L

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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