Details for: PIGL

Gene ID: 9487

Symbol: PIGL

Ensembl ID: ENSG00000108474

Description: phosphatidylinositol glycan anchor biosynthesis class L

Associated with

  • Metabolism of proteins
    (R-HSA-392499)
  • Post-translational modification: synthesis of gpi-anchored proteins
    (R-HSA-163125)
  • Post-translational protein modification
    (R-HSA-597592)
  • Synthesis of glycosylphosphatidylinositol (gpi)
    (R-HSA-162710)
  • Endoplasmic reticulum membrane
    (GO:0005789)
  • Gpi anchor biosynthetic process
    (GO:0006506)
  • N-acetylglucosaminylphosphatidylinositol deacetylase activity
    (GO:0000225)
  • Preassembly of gpi anchor in er membrane
    (GO:0016254)

Other Information

Genular Protein ID: 2921177700

Symbol: PIGL_HUMAN

Name: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase

UniProtKB Accession Codes:

Q9Y2B2 A8KA67 B4DYN4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 4 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 4 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 Rhea 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10085243

Title: Mammalian PIG-L and its yeast homologue Gpi12p are N-acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis.

PubMed ID: 10085243

DOI: 10.1042/bj3390185

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14742432

Title: Subcellular localization and targeting of N-acetylglucosaminyl phosphatidylinositol de-N-acetylase, the second enzyme in the glycosylphosphatidylinositol biosynthetic pathway.

PubMed ID: 14742432

DOI: 10.1074/jbc.m313537200

PubMed ID: 22444671

Title: Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

PubMed ID: 22444671

DOI: 10.1016/j.ajhg.2012.02.010

Sequence Information:

  • Length: 252
  • Mass: 28531
  • Checksum: 420454DCA51704FB
  • Sequence:
    • MEAMWLLCVA LAVLAWGFLW VWDSSERMKS REQGGRLGAE SRTLLVIAHP DDEAMFFAPT 
VLGLARLRHW VYLLCFSAGN YYNQGETRKK ELLQSCDVLG IPLSSVMIID NRDFPDDPGM 
QWDTEHVARV LLQHIEVNGI NLVVTFDAGG VSGHSNHIAL YAAVRALHSE GKLPKGCSVL 
TLQSVNVLRK YISLLDLPLS LLHTQDVLFV LNSKEVAQAK KAMSCHRSQL LWFRRLYIIF 
SRYMRINSLS FL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.