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PIGQ phosphatidylinositol glycan anchor biosynthesis class Q [ Homo sapiens (human) ]

Gene ID: 9091, updated on 25-Nov-2025
Official Symbol
PIGQprovided by HGNC
Official Full Name
phosphatidylinositol glycan anchor biosynthesis class Qprovided by HGNC
Primary source
HGNC:HGNC:14135
See related
Ensembl:ENSG00000007541 MIM:605754; AllianceGenome:HGNC:14135
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
GPI1; DEE77; EIEE77; MCAHS4; GPIBD19; c407A10.1
Summary
This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
Expression
Ubiquitous expression in bone marrow (RPKM 21.8), kidney (RPKM 15.6) and 25 other tissues See more
Orthologs
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Try the new Transcripts and proteins table
See PIGQ in Genome Data Viewer
Location:
16p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (569968..584109)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (573385..587926)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (619968..634109)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:610518-611064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:611065-611610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:614644-615540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:616436-617331 Neighboring gene proline rich 35 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:620915-621809 Neighboring gene NHL repeat containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6921 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:633157-633913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:633914-634669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10207 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:638709-639582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6926 Neighboring gene RAB40C, member RAS oncogene family Neighboring gene OCT4 hESC enhancer GRCh37_chr16:649581-650082 Neighboring gene uncharacterized LOC124903618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:671701-672454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:677407-678140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:679610-680343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:680344-681078 Neighboring gene WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. Johnstone DL, et al. J Inherit Metab Dis, 2020 Nov. PMID 32588908, Free PMC Article
  2. Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability. Shekhar BR, et al. Gene, 2023 Jul 1. PMID 37105505
  3. The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis. Tiede A, et al. Gene, 2001 Jun 27. PMID 11418246
  4. GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis. Hong Y, et al. J Biol Chem, 1999 Jun 25. PMID 10373468
  5. Genetic determinants of disease progression in Alzheimer's disease. Wang X, et al. J Alzheimers Dis, 2015. PMID 25114068, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability.
    Title: Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability.
  2. Genome-wide association analyses identified four suggestive loci (PAX3, CCRN4L, PIGQ, and ADAM19)determinants of disease progression in Alzheimer's disease
    Title: Genetic determinants of disease progression in Alzheimer's disease.
  3. Genetic studies reveal two novel genes for Ohtahara Syndrome: KCNT1 and PIGQ.
    Title: Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
Submit: New GeneRIF Correction

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
Developmental and epileptic encephalopathy, 77
MedGen: C5231405 OMIM: 618548 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
EBI GWAS Catalog

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ56783, MGC12693

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in GPI anchor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in GPI anchor biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within GPI anchor biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in GPI anchor biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in carbohydrate metabolic process TAS
Traceable Author Statement
more info
 PubMed 
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
  
part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IEA
Inferred from Electronic Annotation
more info
  
part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
phosphatidylinositol N-acetylglucosaminyltransferase subunit Q
Names
N-acetylglucosaminyl transferase component Gpi1
N-acetylglucosamyl transferase component GPI1
PIG-Q
c407A10.1 (GPI1 (N-acetylglucosaminyl transferase component))
phosphatidylinositol glycan, class Q
phosphatidylinositol-glycan biosynthesis class Q protein
NP_004195.2
NP_683721.1

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_034206.1 RefSeqGene

    Range
    5001..19171
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004204.5 → NP_004195.2  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 2

    See identical proteins and their annotated locations for NP_004195.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AB003723, AK314361, BC006377, DA206420
    Consensus CDS
    CCDS10412.1
    UniProtKB/TrEMBL
    B2RAU6
    Related
    ENSP00000326674.6, ENST00000321878.10
    Conserved Domains (1) summary
    pfam05024
    Location:277 → 449
    Gpi1; N-acetylglucosaminyl transferase component (Gpi1)

  2. NM_148920.4 → NP_683721.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 1

    See identical proteins and their annotated locations for NP_683721.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB003723, BC006377, DA206420
    Consensus CDS
    CCDS10411.1
    UniProtKB/Swiss-Prot
    A2IDE1, D3DU52, O14927, Q96G00, Q96S22, Q9BRB3, Q9UJH4
    Related
    ENSP00000026218.5, ENST00000026218.9
    Conserved Domains (1) summary
    pfam05024
    Location:277 → 449
    Gpi1; N-acetylglucosaminyl transferase component (Gpi1)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    569968..584109
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    573385..587926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BRB3.3 GenPept UniProtKB/Swiss-Prot:Q9BRB3

Gene LinkOut

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