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

Gene ID: 9487, updated on 4-Nov-2022

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
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Genomic context

See PIGL in Genome Data Viewer
Location:
17p11.2
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16217210..16326411)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16119521..16228739)
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 Sharpr-MPRA regulatory region 12459 Neighboring gene microRNA 1288 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

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

Homology

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_004269.1
XP_011522382.1
XP_047293053.1
XP_047293054.1
XP_047293055.1
XP_047293056.1

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_001411072.1NP_001398001.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005971
    Consensus CDS
    CCDS92263.1
    UniProtKB/TrEMBL
    A8MTV0
  2. NM_004278.4NP_004269.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform 1 precursor

    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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047437098.1XP_047293054.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X2

    Related
    ENSP00000379185.3, ENST00000395844.8
  2. XM_047437097.1XP_047293053.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X1

  3. XM_047437100.1XP_047293056.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

  4. XM_011524080.3XP_011522382.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X3

    Conserved Domains (1) summary
    cl00929
    Location:34167
    PIG-L; GlcNAc-PI de-N-acetylase
  5. XM_047437099.1XP_047293055.1  N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X4

RNA

  1. XR_007065545.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    16119521..16228739
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)