Format

Send to:

Choose Destination

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

Gene ID: 9091, updated on 13-Mar-2020

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
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; EIEE77; 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

Genomic context

See PIGQ in Genome Data Viewer
Location:
16p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (569968..584138)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (619968..634136)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987233 Neighboring gene proline rich 35 Neighboring gene NHL repeat containing 4 Neighboring gene uncharacterized LOC101929280 Neighboring gene RAB40C, member RAS oncogene family 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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77
MedGen: CN262219 OMIM: 618548 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ56783, MGC12693

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
preassembly of GPI anchor in ER membrane TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

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)

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/Swiss-Prot
    Q9BRB3
    UniProtKB/TrEMBL
    B2RAU6
    Related
    ENSP00000326674.5, ENST00000321878.9
    Conserved Domains (1) summary
    pfam05024
    Location:277449
    Gpi1; N-acetylglucosaminyl transferase component (Gpi1)
  2. NM_148920.3NP_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, R45240, Z98883
    Consensus CDS
    CCDS10411.1
    UniProtKB/Swiss-Prot
    Q9BRB3
    Related
    ENSP00000026218.5, ENST00000026218.9
    Conserved Domains (1) summary
    pfam05024
    Location:277449
    Gpi1; N-acetylglucosaminyl transferase component (Gpi1)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    569968..584138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center