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

    Gene ID: 9487, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16217210..16326411)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16119521..16254125)
    RS_2024_09 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 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 (19) 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
    		not available

    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in GPI anchor biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in GPI anchor biosynthetic process 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_2024_08

    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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