PIGY

Protein identityUniProt · HPA

UniProt accession

Q3MUY2

Gene

PIGY

Ensembl

ENSG00000255072

Chromosome

4

Canonical length

71 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted membrane proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

71 residues, UniProt reviewed canonical sequence.

>Q3MUY2|PIGY
     1  MFLSLPTLTV LIPLVSLAGL FYSASVEENF PQGCTSTASL CFYSLLLPIT IPVYVFFHLW
    61  TWMGIKLFRH N

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGY can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

50 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGY.

Disease | AllUniProt

Conditions PIGY is implicated in, by any mechanism.

• Hyperphosphatasia with impaired intellectual development syndrome 6 (HPMRS6) MIM:616809

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 19 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hyperphosphatasia with intellectual disability syndrome 6

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.88

gnomAD pLI

0.1

gnomAD missense Z

-0.32

DepMap mean gene effect

-0.21

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• GPI anchor biosynthetic process

Cellular components

• endoplasmic reticulum membrane
• glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y
• Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y

KeywordsUniProt

• Endoplasmic reticulum
• GPI-anchor biosynthesis
• Intellectual disability
• Membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of PIGY in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PIGA