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Aliases for PIGQ Gene

Aliases for PIGQ Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class Q 2 3 5
  • 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
  • C407A10.1 (GPI1 (N-Acetylglucosaminyl Transferase Component)) 3
  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class Q 3
  • N-Acetylglucosaminyl Transferase Component Gpi1 3
  • EC 2.4.1.198 4
  • C407A10.1 3

External Ids for PIGQ Gene

Previous GeneCards Identifiers for PIGQ Gene

  • GC16P000639
  • GC16P000560
  • GC16P000541
  • GC16P000617
  • GC16P000616

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 and acute contagious conjunctivitis. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. 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

Regulatory Elements for PIGQ Gene

Promoters for PIGQ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIGQ on UCSC Golden Path with GeneCards custom track

Genomic Location for PIGQ Gene

Chromosome:
16
Start:
566,995 bp from pter
End:
584,136 bp from pter
Size:
17,142 bases
Orientation:
Plus strand

Genomic View for PIGQ Gene

Genes around PIGQ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIGQ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIGQ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 563
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PIGQ Gene

Domains & Families for PIGQ Gene

Gene Families for PIGQ Gene

Protein Domains for PIGQ Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BRB3

UniProtKB/Swiss-Prot:

PIGQ_HUMAN :
  • Belongs to the PIGQ family.
Family:
  • Belongs to the PIGQ family.
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

Phenotypes for PIGQ Gene

GenomeRNAi human phenotypes for PIGQ:
genes like me logo Genes that share phenotypes with PIGQ: view

Human Phenotype Ontology for PIGQ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGQ

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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 5
plasma membrane 4
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PIGQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGQ: view

Pathways & Interactions 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:0006506 GPI anchor biosynthetic process IEA --
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

No data available for SIGNOR curated interactions for PIGQ Gene

Drugs & Compounds for PIGQ Gene

(4) Drugs for PIGQ Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist Endogenous agonist at S1P1-5 0

(842) Additional Compounds for PIGQ Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
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

Protein differential expression in normal tissues from HIPED for PIGQ Gene

This gene is overexpressed in Fetal Liver (53.8) and Placenta (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PIGQ: view

Protein tissue co-expression partners for PIGQ Gene

Primer Products

In Situ Assay Products

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 36
  • 70 (a)
OneToOne
PIGQ 35
  • 87.95 (n)
  • 86.4 (a)
dog
(Canis familiaris)
Mammalia PIGQ 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pigq 16
Pigq 35
  • 81.35 (n)
  • 83.65 (a)
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 36
  • 64 (a)
OneToOne
PIGQ 35
  • 71.84 (n)
  • 71.9 (a)
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)
sbcb359 35
pigq 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gpi1 36
  • 25 (a)
OneToOne
Gpi1 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea F01G4.5 36
  • 32 (a)
OneToOne
F01G4.5 35
  • 43.79 (n)
  • 34.55 (a)
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
rs2071979 - 574,114(+) TCTCG(A/G)CGGAC reference, missense
rs1045277 - 583,125(+) TGTCC(C/T)GTGCT reference, missense, utr-variant-3-prime
rs710924 - 583,353(+) CCCTG(C/T)GTACC reference, missense, utr-variant-3-prime
rs710925 - 583,354(+) CCTGT(A/G)TACCC reference, missense, utr-variant-3-prime
rs916414 -- 582,073(+) GATGC(C/T)GGCCT intron-variant

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

Variation tolerance for PIGQ Gene

Residual Variation Intolerance Score: 96.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.47; 43.34% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(3) MalaCards diseases for PIGQ Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
ohtahara syndrome
  • early infantile epileptic encephalopathy
acute contagious conjunctivitis
  • contagious opthalmia
acute conjunctivitis
- elite association - COSMIC cancer census association via MalaCards
Search PIGQ in MalaCards View complete list of genes associated with diseases

Relevant External Links for PIGQ

Genetic Association Database (GAD)
PIGQ
Human Genome Epidemiology (HuGE) Navigator
PIGQ
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGQ
genes like me logo Genes that share disorders with PIGQ: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. (PMID: 10944123) Watanabe R. … Kinoshita T. (EMBO J. 2000) 3 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. Genetic determinants of disease progression in Alzheimer's disease. (PMID: 25114068) Wang X. … Kamboh M.I. (J. Alzheimers Dis. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for PIGQ Gene

Sources for PIGQ Gene

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