PIGS

Protein identityUniProt · HPA

UniProt accession

Q96S52

Gene

PIGS

Ensembl

ENSG00000087111

Chromosome

17

Canonical length

555 aa

Protein class

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

OverviewNCBI Gene

This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

555 residues, UniProt reviewed canonical sequence.

>Q96S52|PIGS
     1  MAAAGAAATH LEVARGKRAA LFFAAVAIVL GLPLWWKTTE TYRASLPYSQ ISGLNALQLR
    61  LMVPVTVVFT RESVPLDDQE KLPFTVVHER EIPLKYKMKI KCRFQKAYRR ALDHEEEALS
   121  SGSVQEAEAM LDEPQEQAEG SLTVYVISEH SSLLPQDMMS YIGPKRTAVV RGIMHREAFN
   181  IIGRRIVQVA QAMSLTEDVL AAALADHLPE DKWSAEKRRP LKSSLGYEIT FSLLNPDPKS
   241  HDVYWDIEGA VRRYVQPFLN ALGAAGNFSV DSQILYYAML GVNPRFDSAS SSYYLDMHSL
   301  PHVINPVESR LGSSAASLYP VLNFLLYVPE LAHSPLYIQD KDGAPVATNA FHSPRWGGIM
   361  VYNVDSKTYN ASVLPVRVEV DMVRVMEVFL AQLRLLFGIA QPQLPPKCLL SGPTSEGLMT
   421  WELDRLLWAR SVENLATATT TLTSLAQLLG KISNIVIKDD VASEVYKAVA AVQKSAEELA
   481  SGHLASAFVA SQEAVTSSEL AFFDPSLLHL LYFPDDQKFA IYIPLFLPMA VPILLSLVKI
   541  FLETRKSWRK PEKTD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGS 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)

0.29

Highest tissue expression

28 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGS.

Disease | AllUniProt

Conditions PIGS is implicated in, by any mechanism.

• Glycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18) MIM:618143

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 146 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Glycosylphosphatidylinositol biosynthesis defect 18

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)

0.77

gnomAD pLI

0

gnomAD missense Z

0.78

DepMap mean gene effect

-0.31

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• attachment of GPI anchor to protein
• GPI anchor biosynthetic process
• GPI anchored protein biosynthesis

Cellular components

• endoplasmic reticulum membrane
• GPI-anchor transamidase complex
• membrane

Protein domainsUniProt · Pfam · InterPro

• Phosphatidylinositol-glycan biosynthesis class S protein
• Phosphatidylinositol-glycan biosynthesis class S protein

KeywordsUniProt

• Endoplasmic reticulum
• Epilepsy
• Glycoprotein
• GPI-anchor biosynthesis
• Membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

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

• PIGT
• VAPA