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

    Gene ID: 9487, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    CHIME syndrome
    MedGen: C1848392 OMIM: 280000 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    General protein information

    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)

    NEW Try the new Transcript table

    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_001411072.1NP_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_004278.4NP_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:34252
      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_047437097.1XP_047293053.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X1

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

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

      UniProtKB/TrEMBL
      J3QLG8
      Conserved Domains (1) summary
      cl00929
      Location:34167
      PIG-L; GlcNAc-PI de-N-acetylase
    4. XM_047437099.1XP_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_054317840.1XP_054173815.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

      UniProtKB/Swiss-Prot
      A8KA67, B4DYN4, Q9Y2B2
    2. XM_054317846.1XP_054173821.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

      UniProtKB/Swiss-Prot
      A8KA67, B4DYN4, Q9Y2B2
    3. XM_054317842.1XP_054173817.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

      UniProtKB/Swiss-Prot
      A8KA67, B4DYN4, Q9Y2B2
    4. XM_054317847.1XP_054173822.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

      UniProtKB/Swiss-Prot
      A8KA67, B4DYN4, Q9Y2B2
    5. XM_054317848.1XP_054173823.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

      UniProtKB/Swiss-Prot
      A8KA67, B4DYN4, Q9Y2B2
    6. XM_054317844.1XP_054173819.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

      UniProtKB/Swiss-Prot
      A8KA67, B4DYN4, Q9Y2B2
    7. XM_054317841.1XP_054173816.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

      UniProtKB/Swiss-Prot
      A8KA67, B4DYN4, Q9Y2B2
    8. XM_054317843.1XP_054173818.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

      UniProtKB/Swiss-Prot
      A8KA67, B4DYN4, Q9Y2B2
    9. XM_054317849.1XP_054173824.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

      UniProtKB/Swiss-Prot
      A8KA67, B4DYN4, Q9Y2B2
    10. XM_054317845.1XP_054173820.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

      UniProtKB/Swiss-Prot
      A8KA67, B4DYN4, Q9Y2B2
    11. XM_054317850.1XP_054173825.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X5

      UniProtKB/TrEMBL
      A8MTV0
    12. XM_054317851.1XP_054173826.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X5

      UniProtKB/TrEMBL
      A8MTV0
    13. XM_054317852.1XP_054173827.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X5

      UniProtKB/TrEMBL
      A8MTV0
    14. XM_054317853.1XP_054173828.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X5

      UniProtKB/TrEMBL
      A8MTV0
    15. XM_054317838.1XP_054173813.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X1

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

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

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

      UniProtKB/TrEMBL
      J3QLG8
    19. XM_054317855.1XP_054173830.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X3