Seroatlas · Human Serome Atlas

PIGU

GPI-anchor transamidase component PIGU

Also known as: bA346K17.2, CDC91L1, GAB1, PIGU_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H490
Gene: PIGU
Ensembl: ENSG00000101464
Chromosome: 20
Canonical length: 435 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

435 residues, UniProt reviewed canonical sequence.

>Q9H490|PIGU
     1  MAAPLVLVLV VAVTVRAALF RSSLAEFISE RVEVVSPLSS WKRVVEGLSL LDLGVSPYSG
    61  AVFHETPLII YLFHFLIDYA ELVFMITDAL TAIALYFAIQ DFNKVVFKKQ KLLLELDQYA
   121  PDVAELIRTP MEMRYIPLKV ALFYLLNPYT ILSCVAKSTC AINNTLIAFF ILTTIKGSAF
   181  LSAIFLALAT YQSLYPLTLF VPGLLYLLQR QYIPVKMKSK AFWIFSWEYA MMYVGSLVVI
   241  ICLSFFLLSS WDFIPAVYGF ILSVPDLTPN IGLFWYFFAE MFEHFSLFFV CVFQINVFFY
   301  TIPLAIKLKE HPIFFMFIQI AVIAIFKSYP TVGDVALYMA FFPVWNHLYR FLRNIFVLTC
   361  IIIVCSLLFP VLWHLWIYAG SANSNFFYAI TLTFNVGQIL LISDYFYAFL RREYYLTHGL
   421  YLTAKDGTEA MLVLK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGU 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: 8
Mean surface accessibility (rSASA): 0.24
Highest tissue expression: 27 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 27 nTPM
spinal cord: 27 nTPM
fallopian tube: 24 nTPM
choroid plexus: 22 nTPM
rectum: 21 nTPM
ovary: 20 nTPM

Single-cell type

oligodendrocytes: 120 nCPM
myonuclei: 102 nCPM
cone photoreceptor cells: 97 nCPM
respiratory ciliated cells: 91 nCPM
rod photoreceptor cells: 76 nCPM
renal collecting duct intercalated cells: 71 nCPM

Immune cell

memory CD8 T-cell: 18 nTPM
NK-cell: 17 nTPM
gdT-cell: 16 nTPM
naive CD8 T-cell: 15 nTPM
memory CD4 T-cell: 15 nTPM
naive CD4 T-cell: 15 nTPM

Brain region

white matter: 40 nTPM
basal ganglia: 27 nTPM
medulla oblongata: 27 nTPM
pons: 26 nTPM
cerebellum: 24 nTPM
cerebral cortex: 24 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGU.

Disease | AllUniProt

Conditions PIGU is implicated in, by any mechanism.

Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis (NEDBSS) MIM:618590

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 141 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Glycosylphosphatidylinositol biosynthesis defect 21

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): 0.87
gnomAD pLI: 0
gnomAD missense Z: 0.72
DepMap mean gene effect: -0.2
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

GPI anchor binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

GPI transamidase subunit PIG-U
GPI transamidase subunit PIG-U

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

PIGU 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 PIGU as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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