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 th... See more...

Aliases for PIGY Gene

Aliases for PIGY Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class Y 2 3 5
  • Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit Y 3 4
  • Phosphatidylinositol-Glycan Biosynthesis Class Y Protein 3 4
  • PIG-Y 3 4
  • Phosphatidylinositol Glycan, Class Y 2
  • MGC14156 2
  • HPMRS6 3
  • PIGY 5

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 Metabolism and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis.

UniProtKB/Swiss-Prot Summary for PIGY Gene

  • Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis (PubMed:16162815). May act by regulating the catalytic subunit PIGA (PubMed:16162815).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIGY Gene

Genomics for PIGY Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIGY Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIGY on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIGY

Top Transcription factor binding sites by QIAGEN in the PIGY gene promoter:
  • aMEF-2
  • AML1a
  • E47
  • En-1
  • Evi-1
  • FOXO4
  • GATA-1
  • MEF-2A
  • Tal-1beta

Genomic Locations for PIGY Gene

Latest Assembly
chr4:88,520,998-88,523,776
(GRCh38/hg38)
Size:
2,779 bases
Orientation:
Minus strand

Previous Assembly
chr4:89,442,149-89,444,927
(GRCh37/hg19 by Entrez Gene)
Size:
2,779 bases
Orientation:
Minus strand

chr4:89,442,724-89,442,940
(GRCh37/hg19 by Ensembl)
Size:
217 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:
    • Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2 (PubMed:16162815). Interacts directly with PIGA; this interaction regulates glycosylphosphatidylinositol-N-acetylglucosaminyltransferase activity (PubMed:16162815). Does not interact with Ras proteins (PubMed:16162815).
    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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for PIGY Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGY Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol-glycan biosynthesis class Y protein (PIGY_HUMAN)
genes like me logo Genes that share domains with PIGY: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PIGY Gene

Function for PIGY Gene

Molecular function for PIGY Gene

UniProtKB/Swiss-Prot Function:
Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis (PubMed:16162815). May act by regulating the catalytic subunit PIGA (PubMed:16162815).

Phenotypes From GWAS Catalog for PIGY Gene

Gene Ontology (GO) - Molecular Function for PIGY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16162815
GO:0017176 contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity IDA 16162815
genes like me logo Genes that share ontologies with PIGY: view
genes like me logo Genes that share phenotypes with PIGY: view

Human Phenotype Ontology for PIGY Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGY

No data available for Enzyme Numbers (IUBMB) , 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
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 PIGY gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIGY Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIGY Gene

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.

Interacting Proteins for PIGY Gene

Gene Ontology (GO) - Biological Process for PIGY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IDA 16162815
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
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

(5) Drugs for PIGY Gene - From: HMDB

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

(888) Additional Compounds for PIGY Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • 3-Dehydro-D-sphinganine
  • 3-Ketodihydrosphingosine
  • 3-Ketosphinganine
  • (2S)-2-Amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3-O-Sulphogalactosylceramide (D18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3-O-Sulphogalactosylceramide (D18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3-O-Sulphogalactosylceramide (D18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3-O-Sulphogalactosylceramide (D18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
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 :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGY

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

No ASD Table

Relevant External Links for PIGY Gene

GeneLoc Exon Structure for
PIGY

Expression for PIGY Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIGY Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIGY

SOURCE GeneReport for Unigene cluster for PIGY Gene:

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

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PIGY 30
  • 92.49 (n)
Cow
(Bos Taurus)
Mammalia PIGY 30
  • 91.08 (n)
Rat
(Rattus norvegicus)
Mammalia LOC100365921 30
  • 78.4 (n)
Mouse
(Mus musculus)
Mammalia Pigyl 30 17 31
  • 77 (n)
OneToOne
Chicken
(Gallus gallus)
Aves PIGY 30
  • 76.47 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pigy 30
  • 74.65 (n)
Str.20118 30
Zebrafish
(Danio rerio)
Actinopterygii Dr.15340 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13853 30
Species where no ortholog for PIGY was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PIGY: view image

Paralogs for PIGY Gene

No data available for Paralogs for PIGY Gene

Variants for PIGY Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIGY Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs143548787 Conflicting Interpretations: not provided 88,521,773(-) G/C
NM_032906.5(PYURF):c.*115C>G
MISSENSE_VARIANT,THREE_PRIME_UTR
rs183004338 Likely Benign: not provided 88,521,647(-) G/A
NM_032906.5(PYURF):c.*241C>T
MISSENSE_VARIANT,THREE_PRIME_UTR
rs869025322 Pathogenic: Hyperphosphatasia with mental retardation syndrome 6. Hyperphosphatasia with mental retardation syndrome 6 (HPMRS6) [MIM:616809] 88,521,653(-) A/Gp.Leu46Pro
NM_032906.5(PYURF):c.*235T>C
MISSENSE_VARIANT,THREE_PRIME_UTR
rs869025323 Pathogenic: Hyperphosphatasia with mental retardation syndrome 6 88,523,797(-) C/T
NM_001042616.2(PIGY):c.-540G>A
FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIGY Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for PIGY Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PIGY Gene

MalaCards: The human disease database

(10) MalaCards diseases for PIGY Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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 variants affecting the gene represented in this entry.

Additional Disease Information for PIGY

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

No data available for Genatlas for PIGY Gene

Publications for PIGY Gene

  1. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. (PMID: 26293662) Ilkovski B … Clarke NF (Human molecular genetics 2015) 3 4 74
  2. The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component. (PMID: 16162815) Murakami Y … Kinoshita T (Molecular biology of the cell 2005) 2 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for PIGY Gene

Sources for PIGY Gene