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Aliases for PIGQ Gene

Aliases for PIGQ Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class Q 2 3
  • Phosphatidylinositol-Glycan Biosynthesis Class Q Protein 3 4
  • N-Acetylglucosamyl Transferase Component GPI1 3 4
  • Phosphatidylinositol Glycan, Class Q 2 3
  • PIG-Q 3 4
  • GPI1 3 4
  • Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit Q 3
  • C407A10.1 (GPI1 (N-Acetylglucosaminyl Transferase Component)) 3
  • N-Acetylglucosaminyl Transferase Component Gpi1 3
  • EC 2.4.1.198 4
  • C407A10.1 3

External Ids for PIGQ Gene

Summaries for PIGQ Gene

Entrez Gene Summary for PIGQ Gene

  • 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]

GeneCards Summary for PIGQ Gene

PIGQ (Phosphatidylinositol Glycan Anchor Biosynthesis, Class Q) is a Protein Coding gene. Diseases associated with PIGQ include ohtahara syndrome. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity.

UniProtKB/Swiss-Prot for PIGQ Gene

  • Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis

Gene Wiki entry for PIGQ Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIGQ Gene

Genomics for PIGQ Gene

Genomic Location for PIGQ Gene

Start:
566,995 bp from pter
End:
584,136 bp from pter
Size:
17,142 bases
Orientation:
Plus strand

Genomic View for PIGQ Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PIGQ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIGQ Gene

Regulatory Elements for PIGQ Gene

Proteins for PIGQ Gene

  • Protein details for PIGQ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRB3-PIGQ_HUMAN
    Recommended name:
    Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q
    Protein Accession:
    Q9BRB3
    Secondary Accessions:
    • A2IDE1
    • D3DU52
    • O14927
    • Q96G00
    • Q96S22
    • Q9UJH4

    Protein attributes for PIGQ Gene

    Size:
    760 amino acids
    Molecular mass:
    84082 Da
    Quaternary structure:
    • Associates with PIGA, PIGC, PIGH, PIGP and DPM2. The latter is not essential for activity

    Alternative splice isoforms for PIGQ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGQ Gene

Proteomics data for PIGQ Gene at MOPED

Post-translational modifications for PIGQ Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys563

No data available for DME Specific Peptides for PIGQ Gene

Domains for PIGQ Gene

Gene Families for PIGQ Gene

HGNC:
  • PIG :Phosphatidylinositol glycan anchor biosynthesis

Protein Domains for PIGQ Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BRB3

UniProtKB/Swiss-Prot:

PIGQ_HUMAN
Family:
  • Belongs to the PIGQ family.:
    • Q9BRB3
genes like me logo Genes that share domains with PIGQ: view

Function for PIGQ Gene

Molecular function for PIGQ Gene

UniProtKB/Swiss-Prot CatalyticActivity: UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol
UniProtKB/Swiss-Prot Function: Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis

Enzyme Numbers (IUBMB) for PIGQ Gene

Gene Ontology (GO) - Molecular Function for PIGQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017176 contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity IBA --
genes like me logo Genes that share ontologies with PIGQ: view

miRNA for PIGQ Gene

miRTarBase miRNAs that target PIGQ

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for PIGQ Gene

Localization for PIGQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGQ Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIGQ Gene COMPARTMENTS Subcellular localization image for PIGQ gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PIGQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IBA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGQ: view

Pathways for PIGQ Gene

genes like me logo Genes that share pathways with PIGQ: view

UniProtKB/Swiss-Prot Q9BRB3-PIGQ_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis

Gene Ontology (GO) - Biological Process for PIGQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 9729469
GO:0006501 C-terminal protein lipidation TAS --
GO:0006506 GPI anchor biosynthetic process --
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with PIGQ: view

Compounds for PIGQ Gene

(898) HMDB Compounds for PIGQ Gene

Compound Synonyms Cas Number PubMed IDs
3-Dehydrosphinganine
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
genes like me logo Genes that share compounds with PIGQ: view

Transcripts for PIGQ Gene

Unigene Clusters for PIGQ Gene

Phosphatidylinositol glycan anchor biosynthesis, class Q:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PIGQ Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1:
SP2:
SP3: -
SP4:

Relevant External Links for PIGQ Gene

GeneLoc Exon Structure for
PIGQ
ECgene alternative splicing isoforms for
PIGQ

Expression for PIGQ Gene

mRNA expression in normal human tissues for PIGQ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIGQ Gene

SOURCE GeneReport for Unigene cluster for PIGQ Gene Hs.744949

genes like me logo Genes that share expressions with PIGQ: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGQ Gene

Orthologs for PIGQ Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PIGQ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGQ 35
  • 99.2 (n)
  • 98.97 (a)
PIGQ 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIGQ 35
  • 87.95 (n)
  • 86.4 (a)
PIGQ 36
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIGQ 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pigq 35
  • 81.35 (n)
  • 83.65 (a)
Pigq 16
Pigq 36
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIGQ 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGQ 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigq 35
  • 81.93 (n)
  • 84.85 (a)
chicken
(Gallus gallus)
Aves PIGQ 35
  • 71.84 (n)
  • 71.9 (a)
PIGQ 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGQ 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigq 35
  • 66.01 (n)
  • 67.38 (a)
zebrafish
(Danio rerio)
Actinopterygii pigq 35
  • 63.54 (n)
  • 63.72 (a)
pigq 36
  • 56 (a)
OneToOne
sbcb359 35
fruit fly
(Drosophila melanogaster)
Insecta Gpi1 36
  • 25 (a)
OneToOne
Gpi1 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea F01G4.5 35
  • 43.79 (n)
  • 34.55 (a)
F01G4.5 36
  • 32 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI1 36
  • 21 (a)
OneToOne
GPI1 38
Species with no ortholog for PIGQ:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIGQ Gene

ENSEMBL:
Gene Tree for PIGQ (if available)
TreeFam:
Gene Tree for PIGQ (if available)

Paralogs for PIGQ Gene

Pseudogenes.org Pseudogenes for PIGQ Gene

genes like me logo Genes that share paralogs with PIGQ: view

No data available for Paralogs for PIGQ Gene

Variants for PIGQ Gene

Sequence variations from dbSNP and Humsavar for PIGQ Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs8642 -- 583,764(-) TTGGC(C/T)GCAGG utr-variant-3-prime
rs8675 -- 583,843(+) CCAGG(A/G)GTGTG utr-variant-3-prime
rs8909 -- 583,851(+) GTGAG(C/T)GGCCT utr-variant-3-prime
rs710924 - 583,353(+) CCCTG(C/T)GTACC utr-variant-3-prime, missense, reference
rs710925 - 583,354(+) CCTGT(A/G)TACCC utr-variant-3-prime, missense, reference

Structural Variations from Database of Genomic Variants (DGV) for PIGQ Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2469n71 CNV Loss 21882294
nsv904707 CNV Loss 21882294
nsv528354 CNV Loss 19592680
nsv526903 CNV Loss 19592680
dgv2475n71 CNV Loss 21882294
dgv2476n71 CNV Loss 21882294
dgv2478n71 CNV Gain+Loss 21882294
dgv2479n71 CNV Loss 21882294
dgv2480n71 CNV Loss 21882294
nsv833113 CNV Loss 17160897
nsv833114 CNV Gain+Loss 17160897
dgv2481n71 CNV Loss 21882294
nsv471064 CNV Gain 18288195
nsv471063 CNV Loss 18288195
nsv904750 CNV Loss 21882294
dgv2483n71 CNV Loss 21882294
dgv2484n71 CNV Loss 21882294
dgv2485n71 CNV Loss 21882294
nsv457304 CNV Gain 19166990
dgv2486n71 CNV Loss 21882294
esv2750208 CNV Deletion 23290073
esv2750209 CNV Deletion 23290073
esv2750210 CNV Deletion 23290073
esv7476 CNV Loss 19470904
esv1003846 CNV Deletion 20482838
esv2750211 CNV Deletion 23290073
esv1189330 CNV Deletion 17803354

Relevant External Links for PIGQ Gene

HapMap Linkage Disequilibrium report
PIGQ
Human Gene Mutation Database (HGMD)
PIGQ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGQ Gene

Disorders for PIGQ Gene

(1) MalaCards Diseases for PIGQ Gene

Search for PIGQ Gene in MalaCards »

Relevant External Links for PIGQ

Genetic Association Database (GAD)
PIGQ
Human Genome Epidemiology (HuGE) Navigator
PIGQ
genes like me logo Genes that share disorders with PIGQ: view

No data available for UniProtKB/Swiss-Prot for PIGQ Gene

Publications for PIGQ Gene

  1. Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants. (PMID: 9729469) Tiede A. … Schmidt R.E. (Biochem. J. 1998) 2 3 4 23
  2. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. (PMID: 10944123) Watanabe R. … Kinoshita T. (EMBO J. 2000) 3 4 23
  3. The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. (PMID: 9463366) Watanabe R. … Kinoshita T. (EMBO J. 1998) 2 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J. … Pennacchio L.A. (Nature 2004) 3 4

Products for PIGQ Gene

Sources for PIGQ Gene

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