Seroatlas · Human Serome Atlas

PIGL

N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase

Also known as: PIGL_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y2B2
Gene: PIGL
Ensembl: ENSG00000108474
Chromosome: 17
Canonical length: 252 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

252 residues, UniProt reviewed canonical sequence.

>Q9Y2B2|PIGL
     1  MEAMWLLCVA LAVLAWGFLW VWDSSERMKS REQGGRLGAE SRTLLVIAHP DDEAMFFAPT
    61  VLGLARLRHW VYLLCFSAGN YYNQGETRKK ELLQSCDVLG IPLSSVMIID NRDFPDDPGM
   121  QWDTEHVARV LLQHIEVNGI NLVVTFDAGG VSGHSNHIAL YAAVRALHSE GKLPKGCSVL
   181  TLQSVNVLRK YISLLDLPLS LLHTQDVLFV LNSKEVAQAK KAMSCHRSQL LWFRRLYIIF
   241  SRYMRINSLS FL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGL 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: 1
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

liver: 13 nTPM
choroid plexus: 11 nTPM
epididymis: 11 nTPM
skin: 11 nTPM
duodenum: 10 nTPM
ovary: 9.8 nTPM

Single-cell type

myonuclei: 154 nCPM
adipocytes: 135 nCPM
proximal tubule cells: 127 nCPM
choroid plexus epithelial cells: 125 nCPM
fibro-adipogenic progenitors: 105 nCPM
distal convoluted tubule cells: 105 nCPM

Immune cell

naive CD4 T-cell: 6.4 nTPM
memory CD4 T-cell: 6.3 nTPM
naive CD8 T-cell: 5.4 nTPM
T-reg: 5.4 nTPM
plasmacytoid DC: 5.2 nTPM
NK-cell: 4.8 nTPM

Brain region

cerebellum: 13 nTPM
white matter: 12 nTPM
cerebral cortex: 11 nTPM
choroid plexus: 11 nTPM
hypothalamus: 11 nTPM
basal ganglia: 10 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGL.

Disease | AllUniProt

Conditions PIGL is implicated in, by any mechanism.

Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome (CHIME) MIM:280000

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 158 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

CHIME syndrome
PIGL-related disorder
8 conditions
Inborn genetic diseases
Intellectual disability

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): 1.51
gnomAD pLI: 0
gnomAD missense Z: 0.05
DepMap mean gene effect: -0.19
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

N-acetylglucosaminylphosphatidylinositol deacetylase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

N-acetylglucosaminyl phosphatidylinositol deacetylase-related
Putative deacetylase LmbE-like domain superfamily
GlcNAc-PI de-N-acetylase

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PIGL as an antibody target. Whether an autoantibody or antibody against PIGL could matter depends on whether native PIGL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PIGL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PIGL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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