Seroatlas · Human Serome Atlas

PIGH

Phosphatidylinositol N-acetylglucosaminyltransferase subunit H

Also known as: GPI-H, PIGH_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q14442
Gene
PIGH
Ensembl
ENSG00000100564
Chromosome
14
Canonical length
188 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

188 residues, UniProt reviewed canonical sequence.

>Q14442|PIGH
     1  MEDERSFSDI CGGRLALQRR YYSPSCREFC LSCPRLSLRS LTAVTCTVWL AAYGLFTLCE
    61  NSMILSAAIF ITLLGLLGYL HFVKIDQETL LIIDSLGIQM TSSYASGKES TTFIEMGKVK
   121  DIVINEAIYM QKVIYYLCIL LKDPVEPHGI SQVVPVFQSA KPRLDCLIEV YRSCQEILAH
   181  QKATSTSP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGH 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)
0.34
Highest tissue expression
63 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 63 nTPM
  • retina: 44 nTPM
  • epididymis: 35 nTPM
  • adrenal gland: 33 nTPM
  • kidney: 32 nTPM
  • skeletal muscle: 31 nTPM

Single-cell type

  • oocytes: 101 nCPM
  • syncytiotrophoblasts: 97 nCPM
  • müller glia: 91 nCPM
  • late primary spermatocytes: 85 nCPM
  • epididymal principal cells: 70 nCPM
  • early primary spermatocytes: 66 nCPM

Immune cell

  • naive B-cell: 72 nTPM
  • memory B-cell: 62 nTPM
  • MAIT T-cell: 59 nTPM
  • eosinophil: 53 nTPM
  • NK-cell: 52 nTPM
  • naive CD4 T-cell: 49 nTPM

Brain region

  • white matter: 37 nTPM
  • pons: 31 nTPM
  • medulla oblongata: 31 nTPM
  • basal ganglia: 30 nTPM
  • cerebellum: 30 nTPM
  • hypothalamus: 30 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGH.

Disease | AllUniProt

Conditions PIGH is implicated in, by any mechanism.

  • Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17) MIM:618010

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 40 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Glycosylphosphatidylinositol biosynthesis defect 17

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
0.23
gnomAD missense Z
0.95
DepMap mean gene effect
-0.29
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Phosphatidylinositol N-acetylglucosaminyltransferase subunit H, conserved domain
  • Phosphatidylinositol N-acetylglucosaminyltransferase subunit H
  • GPI-GlcNAc transferase complex, PIG-H component

KeywordsUniProt

InteractionsUniProt · HPA

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

Antibody and autoantibody relevanceSeroatlas analysis

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

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

Canonical record: https://seroatlas.com/gene/PIGH. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...