PIGP

Protein identityUniProt · HPA

UniProt accession

P57054

Gene

PIGP

Ensembl

ENSG00000185808

Chromosome

21

Canonical length

158 aa

Protein class

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

Subcellular location

Vesicles

OverviewNCBI Gene

This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

Canonical amino-acid sequenceUniProt

158 residues, UniProt reviewed canonical sequence.

>P57054|PIGP
     1  MVPRSTSLTL IVFLFHRLSK APGKMVENSP SPLPERAIYG FVLFLSSQFG FILYLVWAFI
    61  PESWLNSLGL TYWPQKYWAV ALPVYLLIAI VIGYVLLFGI NMMSTSPLDS IHTITDNYAK
   121  NQQQKKYQEE AIPALRDISI SEVNQMFFLA AKELYTKN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGP 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)

0.53

Highest tissue expression

101 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGP.

Disease | AllUniProt

Conditions PIGP is implicated in, by any mechanism.

• Developmental and epileptic encephalopathy 55 (DEE55) MIM:617599

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 166 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Developmental and epileptic encephalopathy
• Developmental and epileptic encephalopathy, 55
• See cases
• PIGP-related disorder

Disease | ImmuneIEDB

Conditions an epitope on PIGP was assayed in.

• colonic benign neoplasm T cell

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)

1.37

gnomAD pLI

0

gnomAD missense Z

-0.56

DepMap mean gene effect

0.01

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

Molecular functions

• phosphatidylinositol N-acetylglucosaminyltransferase activity

Cellular components

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

Protein domainsUniProt · Pfam · InterPro

• PIG-P
• Phosphatidylinositol N-acetylglucosaminyltransferase, GPI19/PIG-P subunit
• GPI Anchor Biosynthesis Protein
• PIG-P

KeywordsUniProt

• Epilepsy
• GPI-anchor biosynthesis
• Membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

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

• PIGA
• PIGQ