Gene/Proteome Database (LMPD)

LMPD ID
LMP001992
Gene ID
9487
Species
Homo sapiens (Human)
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class L
Gene Symbol
PIGL
Synonyms
CHIME
Alternate Names
N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase; PIG-L; phosphatidylinositol glycan, class L; N-acetylglucosaminylphosphatidylinositol deacetylase; phosphatidylinositol-glycan biosynthesis class L protein
Chromosome
17
Map Location
17p12-p11.2
EC Number
3.5.1.89
Summary
This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for PIGL

Proteins

N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase precursor
Refseq ID NP_004269
Protein GI 4758922
UniProt ID Q9Y2B2
mRNA ID NM_004278
Length 252
RefSeq Status REVIEWED
MEAMWLLCVALAVLAWGFLWVWDSSERMKSREQGGRLGAESRTLLVIAHPDDEAMFFAPTVLGLARLRHWVYLLCFSAGNYYNQGETRKKELLQSCDVLGIPLSSVMIIDNRDFPDDPGMQWDTEHVARVLLQHIEVNGINLVVTFDAGGVSGHSNHIALYAAVRALHSEGKLPKGCSVLTLQSVNVLRKYISLLDLPLSLLHTQDVLFVLNSKEVAQAKKAMSCHRSQLLWFRRLYIIFSRYMRINSLSFL
sig_peptide: 1..17 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1877 peptide sequence: MEAMWLLCVALAVLAWG

Gene Information

Entrez Gene ID
9487
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class L
Gene Symbol
PIGL
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0000225 NAS:UniProtKB F N-acetylglucosaminylphosphatidylinositol deacetylase activity
GO:0006501 TAS:Reactome P C-terminal protein lipidation
GO:0006506 NAS:UniProtKB P GPI anchor biosynthetic process
GO:0044267 TAS:Reactome P cellular protein metabolic process
GO:0043687 TAS:Reactome P post-translational protein modification
GO:0016254 TAS:Reactome P preassembly of GPI anchor in ER membrane

KEGG Pathway Links

KEGG Pathway ID Description
hsa00563 Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
hsa01100 Metabolic pathways

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_952 Synthesis of glycosylphosphatidylinositol (GPI)

Domain Information

InterPro Annotations

Accession Description
IPR003737 N-acetylglucosaminyl phosphatidylinositol deacetylase-related
IPR024078 Putative deacetylase LmbE-like domain

UniProt Annotations

Entry Information

Gene Name
phosphatidylinositol glycan anchor biosynthesis, class L
Protein Entry
PIGL_HUMAN
UniProt ID
Q9Y2B2
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y2B2-1; Sequence=Displayed; Name=2; IsoId=Q9Y2B2-2; Sequence=VSP_056886; Note=No experimental confirmation available;
Catalytic Activity 6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol + H(2)O = 6-(alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol + acetate.
Disease Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME) [MIM
Function Involved in the second step of GPI biosynthesis. De-N- acetylation of N-acetylglucosaminyl-phosphatidylinositol.
Pathway Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
Similarity Belongs to the PIGL family.
Subcellular Location Endoplasmic reticulum membrane {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP001992 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4758922 RefSeq NP_004269 252 N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase precursor

Identical Sequences to LMP001992 proteins

Reference Database Accession Length Protein Name
GI:4758922 GenBank ADF25031.1 252 Sequence 199 from patent US 7691599
GI:4758922 GenBank ADQ32060.1 252 phosphatidylinositol glycan anchor biosynthesis, class L, partial [synthetic construct]
GI:4758922 GenBank AED45474.1 252 Sequence 1242 from patent US 7892730
GI:4758922 GenBank AED56750.1 252 Sequence 18 from patent US 7897394
GI:4758922 GenBank AFO15769.1 252 Sequence 18 from patent US 8211998
GI:4758922 GenBank AHD78092.1 252 Sequence 25071 from patent US 8586006

Related Sequences to LMP001992 proteins

Reference Database Accession Length Protein Name
GI:4758922 GenBank ACM83877.1 253 Sequence 9375 from patent US 6812339
GI:4758922 GenBank JAA06368.1 252 phosphatidylinositol glycan anchor biosynthesis, class L [Pan troglodytes]
GI:4758922 GenBank JAA14336.1 252 phosphatidylinositol glycan anchor biosynthesis, class L [Pan troglodytes]
GI:4758922 GenBank JAA27801.1 252 phosphatidylinositol glycan anchor biosynthesis, class L [Pan troglodytes]
GI:4758922 RefSeq XP_003262666.1 252 PREDICTED: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase [Nomascus leucogenys]
GI:4758922 RefSeq XP_523760.3 252 PREDICTED: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X1 [Pan troglodytes]