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

    Gene ID: 9091, updated on 25-Jan-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See PIGQ in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (569968..584109)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (573385..587926)
    105.20220307 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

    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
    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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

    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_034206.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_004204.5NP_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:277449
      Gpi1; N-acetylglucosaminyl transferase component (Gpi1)
    2. NM_148920.4NP_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:277449
      Gpi1; N-acetylglucosaminyl transferase component (Gpi1)

    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_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)