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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
  • 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

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 Epileptic Encephalopathy, Early Infantile, 15 and Acute Contagious Conjunctivitis. Among its related pathways are Metabolism of proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Gene Ontology (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

Additional gene information for PIGQ Gene

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

Genomics for PIGQ Gene

GeneHancer (GH) Regulatory Elements for PIGQ Gene

Promoters and enhancers for PIGQ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I000565 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 561.9 +1.6 1622 5.7 PKNOX1 ARNT ARID4B SIN3A ZNF2 POLR2B ZNF766 ZNF263 SP3 SP5 PIGQ NHLRC4 ENSG00000282907 WFIKKN1 LUC7L ENSG00000269482 WDR90 WDR24 CCDC154 TELO2
GH16I000523 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13 -39.2 -39204 7.6 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 CAPN15 LINC00235 GC16M000522 NHLRC4 PRR35 PIGQ ENSG00000261505 ENSG00000260022 AXIN1 ENSG00000260051
GH16I000586 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.6 +24.1 24137 8.4 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 RAB40C GC16M000587 WDR90 ENSG00000261505 ENSG00000260051 WFIKKN1 ENSG00000260954 RHOT2 WASH4P JMJD8
GH16I000640 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.3 +78.6 78560 10.1 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 WDR90 GC16P000998 MCRIP2 IFT140 LUC7L ENSG00000262528 WFIKKN1 CRAMP1 UBE2I RHBDL1
GH16I000718 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.2 +153.8 153768 3.6 HDGF PKNOX1 SIN3A ZNF2 ZBTB7B POLR2B ZNF207 ZNF143 DEK SP3 PIR42074 FAM173A LUC7L IFT140 UBE2I CRAMP1 WDR24 ENSG00000268836 NARFL UNKL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PIGQ on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIGQ gene promoter:

Genomic Locations for PIGQ Gene

Genomic Locations for PIGQ Gene
chr16:566,995-584,136
(GRCh38/hg38)
Size:
17,142 bases
Orientation:
Plus strand
chr16:616,995-634,136
(GRCh37/hg19)

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

Post-translational modifications for PIGQ Gene

No data available for DME Specific Peptides for PIGQ Gene

Domains & Families for PIGQ Gene

Gene Families for PIGQ Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 From GWAS Catalog for PIGQ Gene

Gene Ontology (GO) - Molecular Function for PIGQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0017176 contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity IBA,IEA --
genes like me logo Genes that share ontologies with PIGQ: view

Phenotypes for PIGQ Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIGQ gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

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:0016020 membrane IEA --
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 --
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 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PIGQ Gene



Protein tissue co-expression partners for PIGQ Gene

NURSA nuclear receptor signaling pathways regulating expression of PIGQ Gene:

PIGQ

SOURCE GeneReport for Unigene cluster for PIGQ Gene:

Hs.744949

Evidence on tissue expression from TISSUES for PIGQ Gene

  • Nervous system(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGQ Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns 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 33 34
  • 99.2 (n)
cow
(Bos Taurus)
Mammalia PIGQ 33 34
  • 87.95 (n)
rat
(Rattus norvegicus)
Mammalia Pigq 33
  • 81.93 (n)
mouse
(Mus musculus)
Mammalia Pigq 33 16 34
  • 81.35 (n)
dog
(Canis familiaris)
Mammalia PIGQ 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIGQ 34
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGQ 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGQ 33 34
  • 71.84 (n)
lizard
(Anolis carolinensis)
Reptilia PIGQ 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigq 33
  • 66.01 (n)
zebrafish
(Danio rerio)
Actinopterygii pigq 33 34
  • 63.54 (n)
sbcb359 33
fruit fly
(Drosophila melanogaster)
Insecta Gpi1 35 34
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea F01G4.5 33 34
  • 43.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI1 34 36
  • 21 (a)
OneToOne
Species where no ortholog for PIGQ was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs111753944 likely-benign, Seizure Disorders 574,424(+) C/A/T coding_sequence_variant, missense_variant
rs112667694 likely-benign, Seizure Disorders 578,432(+) C/T coding_sequence_variant, synonymous_variant
rs117537178 benign, Seizure Disorders 582,284(+) G/A coding_sequence_variant, intron_variant, missense_variant
rs11864607 benign, Seizure Disorders 574,108(+) G/A coding_sequence_variant, missense_variant
rs140668735 likely-benign, Seizure Disorders 578,924(+) C/T coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv4823n54 CNV loss 21841781
esv1003846 CNV deletion 20482838
esv1189330 CNV deletion 17803354
esv2422427 CNV duplication 17116639
esv2750208 CNV deletion 23290073
esv2750209 CNV deletion 23290073
esv2750210 CNV deletion 23290073
esv2750211 CNV deletion 23290073
esv3552973 CNV deletion 23714750
esv3637579 CNV loss 21293372
esv3637580 CNV gain 21293372
esv7476 CNV loss 19470904
nsv1160325 CNV duplication 26073780
nsv1160326 CNV duplication 26073780
nsv457304 CNV gain 19166990
nsv471063 CNV loss 18288195
nsv471064 CNV gain 18288195
nsv526903 CNV loss 19592680
nsv528354 CNV loss 19592680
nsv570988 CNV gain 21841781
nsv571012 CNV loss 21841781
nsv833113 CNV loss 17160897
nsv833114 CNV gain+loss 17160897
nsv952898 CNV deletion 24416366

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)

Additional Variant Information for PIGQ Gene

Human Gene Mutation Database (HGMD)
PIGQ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, Orphanet, and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search PIGQ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PIGQ

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RE (The Biochemical journal 1998) 2 3 4 22 58
  2. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. (PMID: 10944123) Watanabe R … Kinoshita T (The EMBO journal 2000) 3 4 22 58
  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 (The EMBO journal 1998) 2 3 4 58
  4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58

Products for PIGQ Gene

Sources for PIGQ Gene

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