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Aliases for PIGY Gene

Aliases for PIGY Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class Y 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class Y Protein 3 4
  • PIG-Y 3 4
  • Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit Y 3
  • Phosphatidylinositol Glycan, Class Y 2
  • HPMRS6 3

External Ids for PIGY Gene

Previous GeneCards Identifiers for PIGY Gene

  • GC04M089800
  • GC04M089661
  • GC04M089442
  • GC04M085194

Summaries for PIGY Gene

Entrez Gene Summary for PIGY Gene

  • The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012]

GeneCards Summary for PIGY Gene

PIGY (Phosphatidylinositol Glycan Anchor Biosynthesis Class Y) is a Protein Coding gene. Diseases associated with PIGY include Hyperphosphatasia With Mental Retardation Syndrome 6 and Hyperphosphatasia-Intellectual Disability Syndrome. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism.

UniProtKB/Swiss-Prot for PIGY Gene

  • Component of the GPI-GlcNAc transferase (GPI-GnT) complex in the endoplasmic reticulum, a complex that catalyzes transfer of GlcNAc from UDP-GlcNAc to an acceptor phosphatidylinositol, the first step in the production of GPI-anchors for cell surface proteins. May act by regulating the catalytic subunit PIGA.

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

Genomics for PIGY Gene

Regulatory Elements for PIGY Gene

Enhancers for PIGY Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F088658 0.5 Ensembl ENCODE 12.4 -137.0 -136966 3.8 SOX13 ELF3 CTCF ARID4B CEBPG RAD21 ZNF316 GATA3 HNF4G SMC3 HERC3 PIGY PYURF LOC100129137 NAP1L5 FAM13A-AS1 GC04M088685 RNU6-33P GC04M088591
GH04F088598 0.7 Ensembl ENCODE 11.5 -76.3 -76304 3.4 JUN RFX5 ZNF316 GATA3 POLR2A SCRT2 FOS MAFK NFE2L2 BHLHE40 LOC100129137 HERC3 PIGY PYURF NAP1L5 FAM13A-AS1 GC04M088591 GC04M088685 RNU6-33P
GH04F088591 0.7 ENCODE 11.2 -69.0 -68955 3.1 ATF1 PKNOX1 ZFP64 ARID4B SIN3A ZNF48 ZNF2 YY1 ZNF143 FOS LOC100129137 PIGY PYURF HERC3 FAM13A-AS1 GC04M088591 GC04M088685 RNU6-33P
GH04F088608 1.2 FANTOM5 Ensembl ENCODE 11.2 -87.8 -87812 6.0 PKNOX1 TBL1XR1 BMI1 FEZF1 CBX5 ETV6 FOS CREM CBFB CEBPB HERC3 LOC100129137 PIGY PYURF NAP1L5 FAM13A-AS1 PPM1K GC04M088591 GC04M088685 RNU6-33P
GH04F088615 0.7 Ensembl ENCODE 11.2 -93.2 -93188 2.2 JUND CEBPB STAT3 EP300 LOC100129137 PIGY PYURF HERC3 HERC6 GC04M088591 GC04M088685 RNU6-33P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PIGY on UCSC Golden Path with GeneCards custom track

Promoters for PIGY Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001245092 401 2001 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CBX5 ZNF143 ZNF207

Genomic Location for PIGY Gene

Chromosome:
4
Start:
88,520,978 bp from pter
End:
88,523,801 bp from pter
Size:
2,824 bases
Orientation:
Minus strand

Genomic View for PIGY Gene

Genes around PIGY on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGY Gene

Proteins for PIGY Gene

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

    Protein Symbol:
    Q3MUY2-PIGY_HUMAN
    Recommended name:
    Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y
    Protein Accession:
    Q3MUY2

    Protein attributes for PIGY Gene

    Size:
    71 amino acids
    Molecular mass:
    8058 Da
    Quaternary structure:
    • Interacts with the GPI-GnT complex composed of PIGA, PIGC, PIGH, PIGP, PIGQ and DPM2. Interacts directly with PIGA. Does not interact with Ras proteins.
    Miscellaneous:
    • PREY and PIGY, 2 apparently unrelated proteins, are respectively the product of an upstream and a downstream ORF contained in a single bicistronic transcript.

neXtProt entry for PIGY Gene

Post-translational modifications for PIGY Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIGY Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PIGY Gene

Domains & Families for PIGY Gene

Gene Families for PIGY Gene

Protein Domains for PIGY Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGY Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PIGY: view

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

Function for PIGY Gene

Molecular function for PIGY Gene

UniProtKB/Swiss-Prot Function:
Component of the GPI-GlcNAc transferase (GPI-GnT) complex in the endoplasmic reticulum, a complex that catalyzes transfer of GlcNAc from UDP-GlcNAc to an acceptor phosphatidylinositol, the first step in the production of GPI-anchors for cell surface proteins. May act by regulating the catalytic subunit PIGA.

Phenotypes for PIGY Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PIGY Gene

Localization for PIGY Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGY Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIGY Gene COMPARTMENTS Subcellular localization image for PIGY gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for PIGY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA 16162815
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA 16162815
GO:0005886 plasma membrane IDA 16162815
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PIGY: view

Pathways & Interactions for PIGY Gene

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

Pathways by source for PIGY Gene

UniProtKB/Swiss-Prot Q3MUY2-PIGY_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IEA,IDA --
genes like me logo Genes that share ontologies with PIGY: view

No data available for SIGNOR curated interactions for PIGY Gene

Drugs & Compounds for PIGY Gene

(3) Drugs for PIGY Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 0

(841) Additional Compounds for PIGY 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 PIGY: view

Transcripts for PIGY Gene

mRNA/cDNA for PIGY Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(389) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PIGY Gene

Phosphatidylinositol glycan anchor biosynthesis, class Y:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PIGY Gene

GeneLoc Exon Structure for
PIGY
ECgene alternative splicing isoforms for
PIGY

Expression for PIGY Gene

mRNA expression in normal human tissues for PIGY Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of PIGY Gene:

PIGY

SOURCE GeneReport for Unigene cluster for PIGY Gene:

Hs.26136
genes like me logo Genes that share expression patterns with PIGY: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PIGY Gene

Orthologs for PIGY Gene

This gene was present in the common ancestor of chordates.

Orthologs for PIGY Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGY 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia PIGY 34
  • 92.49 (n)
cow
(Bos Taurus)
Mammalia PIGY 34
  • 91.08 (n)
rat
(Rattus norvegicus)
Mammalia LOC100365921 34
  • 78.4 (n)
mouse
(Mus musculus)
Mammalia Pigyl 34 16 35
  • 77 (n)
chicken
(Gallus gallus)
Aves PIGY 34
  • 76.47 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia pigy 34
  • 74.65 (n)
Str.20118 34
zebrafish
(Danio rerio)
Actinopterygii Dr.15340 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13853 34
Species where no ortholog for PIGY 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PIGY Gene

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

Paralogs for PIGY Gene

No data available for Paralogs for PIGY Gene

Variants for PIGY Gene

Sequence variations from dbSNP and Humsavar for PIGY Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs869025322 Hyperphosphatasia with mental retardation syndrome 6 (HPMRS6) [MIM:616809], Pathogenic 88,521,653(-) CCTGC(C/T)CTTGC reference, missense, utr-variant-3-prime
rs869025323 Pathogenic 88,523,797(-) CAGGG(A/G)GCGGG upstream-variant-2KB, utr-variant-5-prime
rs1072 -- 88,521,208(+) CATCC(C/T)TAACA utr-variant-3-prime
rs11305777 -- 88,523,120(+) AAAAA(-/G)GAAAA intron-variant, upstream-variant-2KB
rs113975458 -- 88,522,932(+) ACTTG(A/T)CCTGA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv980229 CNV duplication 23825009

Variation tolerance for PIGY Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGY Gene

Human Gene Mutation Database (HGMD)
PIGY
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGY

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

Disorders for PIGY Gene

MalaCards: The human disease database

(3) MalaCards diseases for PIGY Gene - From: ClinVar, Orphanet, Swiss-Prot, and GeneCards

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

UniProtKB/Swiss-Prot

PIGY_HUMAN
  • Hyperphosphatasia with mental retardation syndrome 6 (HPMRS6) [MIM:616809]: An autosomal recessive, multisystem disorder characterized by severe developmental delay, dysmorphism, seizures, cataracts, and early death in some patients. {ECO:0000269 PubMed:26293662}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIGY

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

No data available for Genatlas for PIGY Gene

Publications for PIGY Gene

  1. The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component. (PMID: 16162815) Murakami Y. … Kinoshita T. (Mol. Biol. Cell 2005) 2 3 4 64
  2. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. (PMID: 26293662) Ilkovski B. … Clarke N.F. (Hum. Mol. Genet. 2015) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  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 64
  5. A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. (PMID: 22925353) Lee H.J. … Kelsoe J.R. (J Affect Disord 2013) 3 64

Products for PIGY Gene

Sources for PIGY Gene

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