Aliases for PIGY Gene
Aliases for PIGY Gene
External Ids for PIGY Gene
- HGNC: 28213
- Entrez Gene: 84992
- Ensembl: ENSG00000255072
- OMIM: 610662
- UniProtKB: Q3MUY2
Previous GeneCards Identifiers for PIGY Gene
- GC04M089800
- GC04M089661
- GC04M089442
- GC04M085194
Summaries 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 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
- Monarch Initiative
- Search for PIGY at DataMed
- Search for PIGY at HumanCyc
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
GeneHancer (GH) Regulatory Elements for PIGY Gene
Promoters and enhancers for PIGY Gene
- 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:
-
- GATA-1
- FOXO4
- AML1a
- Tal-1beta
- E47
- En-1
- MEF-2A
- aMEF-2
- Evi-1
Regulatory Element Products
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)
- Size:
- 2,821 bases
- Orientation:
- Minus strand
Genomic View for PIGY Gene
Genes around PIGY on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q22.1 by Entrez Gene
- 4q22.1 by HGNC
- 4q22.1 by Ensembl
PIGY Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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.
Post-translational modifications for PIGY Gene
Other Protein References for PIGY Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
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-
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Protein Products
-
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-
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Assay Products
- antibodies-online: Search results for available PIGY related products ranked by validation data
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
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 From GWAS Catalog for PIGY Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0017176 | contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity | IDA | 16162815 |
Phenotypes for PIGY Gene
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-
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-
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-
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miRNA for PIGY Gene
- miRTarBase miRNAs that target PIGY
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIGY
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 5 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIGY Gene
Pathways & Interactions for PIGY Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycosylphosphatidylinositol (GPI)-anchor biosynthesis | ||
| 2 | Metabolism | ||
Pathways by source for PIGY Gene
2 KEGG pathways for PIGY Gene
UniProtKB/Swiss-Prot Q3MUY2-PIGY_HUMAN
- Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Interacting Proteins for PIGY Gene
GPS-Prot Interaction Network for PIGY
| 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 | -- |
No data available for SIGNOR curated interactions for PIGY Gene
Drugs & Compounds for PIGY Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Dehydrosphinganine |
|
16105-69-4 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
| 3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
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 :
-
- ENST00000527353 217 bps (uc062ydg.1)
Unigene Clusters for PIGY Gene
- Phosphatidylinositol glycan anchor biosynthesis, class Y:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PIGY
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- genomics-online: gRNA clones - Search results for available PIGY gene related products
- Applied Biological Materials CRISPR for PIGY
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIGY
- GenScript: Design CRISPR guide RNA sequences for PIGY
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIGY
- Browse OriGene Inhibitory RNA Products For PIGY
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGY
- genomics-online: shRNA clones - Search results for available PIGY gene related products
Clone Products
- Sino Biological Human cDNA Clone for PIGY
- VectorBuilder custom plasmid, inducible vectors for PIGY
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PIGY
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIGY
- genomics-online: cdna clones - Search results for available PIGY gene related products
- orf clones - Search results for available PIGY gene related products
- Applied Biological Materials Clones for PIGY
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PIGY Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Thyroid (Endocrine System)
-
Kidney (Urinary System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Ovary (Reproductive System)
-
Adipose (Muscoskeletal System)
NURSA nuclear receptor signaling pathways regulating expression of PIGY Gene:
PIGYSOURCE GeneReport for Unigene cluster for PIGY Gene:
Hs.26136Primer Products
- genomics-online: primer clones - Search results for available PIGY gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PIGY 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PIGY 33 |
|
||
| cow (Bos Taurus) |
Mammalia | PIGY 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC100365921 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pigyl 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | PIGY 33 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pigy 33 |
|
||
| Str.20118 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.13853 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | Dr.15340 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)
- 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
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGY Gene
Disorders for PIGY Gene
(2) MalaCards diseases for PIGY Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hyperphosphatasia with mental retardation syndrome 6 |
|
|
| hyperphosphatasia-intellectual disability syndrome |
|
|
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
No data available for Genatlas for PIGY Gene
Publications for PIGY Gene
- 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
- Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. (PMID: 26293662) Ilkovski B … Clarke NF (Human molecular genetics 2015) 3 4 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
- 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
- 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
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 28 available PIGY Antibodies ranked by validation data
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Sources for PIGY Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
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- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
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