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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

gg219

HGNC

8966

mRNA

NM_004278

map

17p12-p11.2, 17p11.2 (OMIM)

Protein

NP_004269

OMIM

605947

KEGG Gene ID

hsa:9487

PubChem

9487

Alliance of Genome Resources

HGNC:8966

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

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 2** entries
GO Term	Evidence Code	PMID
GPI anchor biosynthetic process		10085243
preassembly of GPI anchor in ER membrane	IMP TAS	10085243

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein lipidation [inference]

GPI anchor biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

carbohydrate derivative biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein lipidation [inference]

GPI anchor biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein lipidation [inference]

GPI anchor biosynthetic process

macromolecule modification [inference]

protein modification process [inference]

protein lipidation [inference]

GPI anchor biosynthetic process

carbohydrate derivative metabolic process [inference]

carbohydrate derivative biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein lipidation [inference]

GPI anchor biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

carbohydrate derivative biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

preassembly of GPI anchor in ER membrane

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process [inference]

GPI anchor biosynthetic process

Displaying **all 2** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IBA
endoplasmic reticulum membrane	IDA TAS	14742432

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying 1 entry
GO Term	Evidence Code	PMID
N-acetylglucosaminylphosphatidylinositol deacetylase activity	IBA ISS NAS TAS	10085243

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds [inference]

hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides [inference]

N-acetylglucosaminylphosphatidylinositol deacetylase activity

deacetylase activity [inference]

N-acetylglucosaminylphosphatidylinositol deacetylase activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000108474

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

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg219

Gene Symbol

PIGL

KEGG BRITE Database

Orthology

K03434

Name

N-acetylglucosaminylphosphatidylinositol deacetylase [EC:3.5.1.89]

References

14742432

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R05917	3.5.1.89	G68544GH	G94923PG

Rhea

H₂O + a 6-(N-acetyl-α-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol

acetate + an α-D-GlcN-(1→6)-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol

Enzyme

3.5.1.89

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 78 in total

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DO ID	Disease Name	Source
DOID:0080207	CAKUT2	DisGeNET
DOID:0110213	isolated cleft palate	DisGeNET
DOID:0050428	nonepidermolytic palmoplantar keratoderma	DisGeNET
DOID:0050429	Hailey-Hailey disease	DisGeNET
DOID:0050591	tooth agenesis	DisGeNET
DOID:0050841	focal hand dystonia	DisGeNET
DOID:0060216	Cogan syndrome	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060260	ptosis	DisGeNET
DOID:0060261	congenital ptosis	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of **152** in total

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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

PubChem Disease

MedGen Diseases

CHIME syndrome

OMIM Phenotypes

COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND EAR ANOMALIES SYNDROME; CHIME

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP001992
Gene Name: phosphatidylinositol glycan anchor biosynthesis, class L

Ortholog

Displaying entries **1 - 10** of 68 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	3565275	WB:WBGene00013131
Drosophila melanogaster	42388	FB:FBgn0038763
Latimeria chalumnae	102348270		LATCH06649
Danio rerio	561471	ZFIN:ZDB-GENE-050506-60	DANRE35996
Ictalurus punctatus	108259871		ICTPU23195
Electrophorus electricus	113589992		ELEEL44235
Esox lucius	105027553		ESOLU18004
Salmo trutta	115148851		SALTR19019
Oryzias latipes	101171602		ORYLA04405
Oreochromis niloticus	100708562		ORENI03591

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Last updated: August 19, 2024