PIGC

Protein identityUniProt · HPA

UniProt accession

Q92535

Gene

PIGC

Ensembl

ENSG00000135845

Chromosome

1

Canonical length

297 aa

Protein class

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

OverviewNCBI Gene

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

297 residues, UniProt reviewed canonical sequence.

>Q92535|PIGC
     1  MYAQPVTNTK EVKWQKVLYE RQPFPDNYVD RRFLEELRKN IHARKYQYWA VVFESSVVIQ
    61  QLCSVCVFVV IWWYMDEGLL APHWLLGTGL ASSLIGYVLF DLIDGGEGRK KSGQTRWADL
   121  KSALVFITFT YGFSPVLKTL TESVSTDTIY AMSVFMLLGH LIFFDYGANA AIVSSTLSLN
   181  MAIFASVCLA SRLPRSLHAF IMVTFAIQIF ALWPMLQKKL KACTPRSYVG VTLLFAFSAV
   241  GGLLSISAVG AVLFALLLMS ISCLCPFYLI RLQLFKENIH GPWDEAEIKE DLSRFLS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGC 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

7

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

39 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGC.

Disease | AllUniProt

Conditions PIGC is implicated in, by any mechanism.

• Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) MIM:617816

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 84 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Glycosylphosphatidylinositol biosynthesis defect 16
• Global developmental delay

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)

1.06

gnomAD pLI

0.01

gnomAD missense Z

0.79

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% 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

• catalytic activity

Cellular components

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

Protein domainsUniProt · Pfam · InterPro

• Phosphatidylinositol N-acetylglucosaminyltransferase subunit C
• Phosphatidylinositol N-acetylglucosaminyltransferase

KeywordsUniProt

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

InteractionsUniProt · HPA

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

• PIGQ
• DPM2
• PIGA