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PIGY Gene(Protein Coding)

Phosphatidylinositol Glycan Anchor Biosynthesis Class Y

GCID:
GC04M088520
GIFtS:
45
Genes Participants
UDN Logo

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.

Additional gene information for PIGY Gene

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

Genomics for PIGY Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PIGY Gene

Promoters and enhancers for PIGY 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
GH04I088522 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 273 2.5 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B CBX5 PYURF PIGY LOC101929134 HERC3
GH04I088521 Promoter 0.5 EPDnew 550.8 +2.1 2090 0.1 HERC3 PIGY PYURF
GH04I088525 Enhancer 0.4 Ensembl 550.8 -1.4 -1400 0.4 ZBTB33 MLLT1 LOC101929134 LOC100129137 PIGY PYURF HERC3
GH04I088591 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.2 -69.0 -68954 3.1 PKNOX1 CLOCK ATF1 ZFP64 ARID4B SIN3A ZNF2 ZNF48 YY1 ELK1 HERC3 GC04M088591 LOC100129137 PIGY PYURF FAM13A-AS1 GC04M088685 RNU6-33P
GH04I088608 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -87.8 -87807 6 PKNOX1 SMAD1 RB1 BMI1 FEZF1 ZBTB40 BATF IRF4 ZSCAN5C ATF7 HERC3 LOC100129137 PIGY PYURF NAP1L5 FAM13A-AS1 PPM1K GC04M088591 GC04M088685 RNU6-33P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PIGY on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PIGY Gene

Genomic Locations for PIGY Gene
chr4:88,520,978-88,523,801
(GRCh38/hg38)
Size:
2,824 bases
Orientation:
Minus strand
chr4:89,442,135-89,444,955
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for PIGY Gene

Proteins for PIGY Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

No Post-translational modifications

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:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 From GWAS Catalog for PIGY Gene

Gene Ontology (GO) - Molecular Function for PIGY Gene

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

Phenotypes for PIGY Gene

GenomeRNAi human phenotypes for PIGY:
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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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 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 TAS,IDA --
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

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000432688%0d%0a9606.ENSP00000258324%0d%0a9606.ENSP00000216452%0d%0a9606.ENSP00000225609%0d%0a9606.ENSP00000420037%0d%0a9606.ENSP00000219789%0d%0a
Selected Interacting proteins: ENSP00000432688 Q3MUY2-PIGY_HUMAN for PIGY Gene via STRING IID

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

Products:

  1. Drug

(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 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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:

CRISPR Products

Inhibitory RNA 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for PIGY Gene
mRNA expression by BioGPS 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 , 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 33 34
  • 100 (n)
dog
(Canis familiaris)
 Mammalia PIGY 33
  • 92.49 (n)
cow
(Bos Taurus)
 Mammalia PIGY 33
  • 91.08 (n)
rat
(Rattus norvegicus)
 Mammalia LOC100365921 33
  • 78.4 (n)
mouse
(Mus musculus)
 Mammalia Pigyl 33 16 34
  • 77 (n)
chicken
(Gallus gallus)
 Aves PIGY 33
  • 76.47 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia pigy 33
  • 74.65 (n)
Str.20118 33
zebrafish
(Danio rerio)
 Actinopterygii Dr.15340 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.13853 33
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 Variation AA Info Type
rs869025322 pathogenic, Hyperphosphatasia with mental retardation syndrome 6, Hyperphosphatasia with mental retardation syndrome 6 (HPMRS6) [MIM:616809] 88,521,653(-) A/G coding_sequence_variant, missense_variant
rs869025323 pathogenic, Hyperphosphatasia with mental retardation syndrome 6 88,523,797(-) C/T 5_prime_UTR_variant
rs143548787 uncertain-significance, not provided 88,521,773(-) G/A/C coding_sequence_variant, missense_variant
rs1000114967 -- 88,524,116(-) A/G upstream_transcript_variant
rs1001758000 -- 88,522,465(-) G/A intron_variant

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

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, 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.

Additional Disease Information for PIGY

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 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 (Molecular biology of the cell 2005) 2 3 4 58
  2. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. (PMID: 26293662) Ilkovski B … Clarke NF (Human molecular genetics 2015) 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 58
  5. A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. (PMID: 22925353) Lee HJ … Kelsoe JR (Journal of affective disorders 2013) 3 58

Products for PIGY Gene

Sources for PIGY Gene

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