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PIGL phosphatidylinositol glycan anchor biosynthesis class L [ Homo sapiens (human) ]

Gene ID: 9487, updated on 11-Apr-2024

Summary

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Official Symbol
PIGLprovided by HGNC
Official Full Name
phosphatidylinositol glycan anchor biosynthesis class Lprovided by HGNC
Primary source
HGNC:HGNC:8966
See related
Ensembl:ENSG00000108474 MIM:605947; AllianceGenome:HGNC:8966
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CHIME
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]
Expression
Ubiquitous expression in duodenum (RPKM 4.7), skin (RPKM 4.2) and 25 other tissues See more
Orthologs
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Genomic context

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See PIGL in Genome Data Viewer
Location:
17p11.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16217210..16326411)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16119521..16254125)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (16120524..16229725)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene nuclear receptor corepressor 1 Neighboring gene small nucleolar RNA, C/D box 163 Neighboring gene RNA, 7SL, cytoplasmic 442, pseudogene Neighboring gene hESC enhancers GRCh37_chr17:16117644-16118560 and GRCh37_chr17:16118561-16119476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11750 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16189057-16190046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16208527-16209028 Neighboring gene microRNA 1288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8219 Neighboring gene uncharacterized LOC124903937 Neighboring gene centromere protein V

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. Knight Johnson A, et al. Am J Med Genet A, 2017 May. PMID 28371479
  2. Mutations in PIGL in a patient with Mabry syndrome. Fujiwara I, et al. Am J Med Genet A, 2015 Apr. PMID 25706356
  3. Subcellular localization and targeting of N-acetylglucosaminyl phosphatidylinositol de-N-acetylase, the second enzyme in the glycosylphosphatidylinositol biosynthetic pathway. Pottekat A, et al. J Biol Chem, 2004 Apr 16. PMID 14742432
  4. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Ng BG, et al. Am J Hum Genet, 2012 Apr 6. PMID 22444671, Free PMC Article
  5. Expression cloning of PIG-L, a candidate N-acetylglucosaminyl-phosphatidylinositol deacetylase. Nakamura N, et al. J Biol Chem, 1997 Jun 20. PMID 9188481

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Elevated nuclear PIGL disrupts the cMyc/BRD4 axis and improves PD-1 blockade therapy by dampening tumor immune evasion.
    Title: Elevated nuclear PIGL disrupts the cMyc/BRD4 axis and improves PD-1 blockade therapy by dampening tumor immune evasion.
  2. Mutations in PIGL in a patient with Mabry syndrome.
    Title: Mutations in PIGL in a patient with Mabry syndrome.
  3. c.336-2A>G variant in PIGL associated with developmental disorder resulted in exon skipping.
    Title: Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
  4. these findings indicate that patients with a clinical diagnosis of CHIME syndrome and a single identifiable mutation in PIGL warrant further investigation for copynumber changes involving
    Title: Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
  5. Whole-exome sequencing on five previously reported CHIME cases identified PIGL (N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase) as required for glycosylphosphatidylinositol anchor formation.
    Title: Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
CHIME syndrome
MedGen: C1848392 OMIM: 280000 GeneReviews: Not available
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EBI GWAS Catalog

Description
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of phosphatidylinositol glycan anchor biosynthesis, class L (PIGL) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetylglucosaminylphosphatidylinositol deacetylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables N-acetylglucosaminylphosphatidylinositol deacetylase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables N-acetylglucosaminylphosphatidylinositol deacetylase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables N-acetylglucosaminylphosphatidylinositol deacetylase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in GPI anchor biosynthetic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in preassembly of GPI anchor in ER membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in preassembly of GPI anchor in ER membrane TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase
Names
N-acetylglucosaminylphosphatidylinositol deacetylase
PIG-L
phosphatidylinositol glycan, class L
phosphatidylinositol-glycan biosynthesis class L protein
NP_001398001.1
NP_004269.1
XP_011522382.1
XP_047293053.1
XP_047293055.1
XP_047293056.1
XP_054173813.1
XP_054173814.1
XP_054173815.1
XP_054173816.1
XP_054173817.1
XP_054173818.1
XP_054173819.1
XP_054173820.1
XP_054173821.1
XP_054173822.1
XP_054173823.1
XP_054173824.1
XP_054173825.1
XP_054173826.1
XP_054173827.1
XP_054173828.1
XP_054173829.1
XP_054173830.1
XP_054173831.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032651.1 RefSeqGene

    Range
    5016..114217
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001411072.1 → NP_001398001.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC005971
    Consensus CDS
    CCDS92263.1
    UniProtKB/TrEMBL
    A8MTV0
    Related
    ENSP00000379185.3, ENST00000395844.8

  2. NM_004278.4 → NP_004269.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform 1

    See identical proteins and their annotated locations for NP_004269.1

    Status: REVIEWED

    Source sequence(s)
    AB017165, AC005971, AI888858, BC068197, BX404762
    Consensus CDS
    CCDS11176.1
    UniProtKB/Swiss-Prot
    A8KA67, B4DYN4, Q9Y2B2
    Related
    ENSP00000225609.5, ENST00000225609.10
    Conserved Domains (1) summary
    cl00929
    Location:34 → 252
    PIG-L; GlcNAc-PI de-N-acetylase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    16217210..16326411
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437097.1 → XP_047293053.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X1

  2. XM_047437100.1 → XP_047293056.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X3

  3. XM_011524080.3 → XP_011522382.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X2

    UniProtKB/TrEMBL
    J3QLG8
    Conserved Domains (1) summary
    cl00929
    Location:34 → 167
    PIG-L; GlcNAc-PI de-N-acetylase

  4. XM_047437099.1 → XP_047293055.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X3

RNA

  1. XR_007065545.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    16119521..16254125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317840.1 → XP_054173815.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

    UniProtKB/Swiss-Prot
    A8KA67, B4DYN4, Q9Y2B2

  2. XM_054317846.1 → XP_054173821.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

    UniProtKB/Swiss-Prot
    A8KA67, B4DYN4, Q9Y2B2

  3. XM_054317842.1 → XP_054173817.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

    UniProtKB/Swiss-Prot
    A8KA67, B4DYN4, Q9Y2B2

  4. XM_054317847.1 → XP_054173822.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

    UniProtKB/Swiss-Prot
    A8KA67, B4DYN4, Q9Y2B2

  5. XM_054317848.1 → XP_054173823.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

    UniProtKB/Swiss-Prot
    A8KA67, B4DYN4, Q9Y2B2

  6. XM_054317844.1 → XP_054173819.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

    UniProtKB/Swiss-Prot
    A8KA67, B4DYN4, Q9Y2B2

  7. XM_054317841.1 → XP_054173816.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

    UniProtKB/Swiss-Prot
    A8KA67, B4DYN4, Q9Y2B2

  8. XM_054317843.1 → XP_054173818.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

    UniProtKB/Swiss-Prot
    A8KA67, B4DYN4, Q9Y2B2

  9. XM_054317849.1 → XP_054173824.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

    UniProtKB/Swiss-Prot
    A8KA67, B4DYN4, Q9Y2B2

  10. XM_054317845.1 → XP_054173820.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

    UniProtKB/Swiss-Prot
    A8KA67, B4DYN4, Q9Y2B2

  11. XM_054317850.1 → XP_054173825.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X5

    UniProtKB/TrEMBL
    A8MTV0

  12. XM_054317851.1 → XP_054173826.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X5

    UniProtKB/TrEMBL
    A8MTV0

  13. XM_054317852.1 → XP_054173827.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X5

    UniProtKB/TrEMBL
    A8MTV0

  14. XM_054317853.1 → XP_054173828.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X5

    UniProtKB/TrEMBL
    A8MTV0

  15. XM_054317838.1 → XP_054173813.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X1

  16. XM_054317856.1 → XP_054173831.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X3

  17. XM_054317839.1 → XP_054173814.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X1

  18. XM_054317854.1 → XP_054173829.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X2

  19. XM_054317855.1 → XP_054173830.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2B2.1 GenPept UniProtKB/Swiss-Prot:Q9Y2B2

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