Seroatlas · Human Serome Atlas

PIGG

GPI ethanolamine phosphate transferase 2, catalytic subunit

Also known as: FLJ20265, GPI7, LAS21, PIGG_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q5H8A4
Gene: PIGG
Ensembl: ENSG00000174227
Chromosome: 4
Canonical length: 983 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

983 residues, UniProt reviewed canonical sequence.

>Q5H8A4|PIGG
     1  MRLGSGTFAT CCVAIEVLGI AVFLRGFFPA PVRSSARAEH GAEPPAPEPS AGASSNWTTL
    61  PPPLFSKVVI VLIDALRDDF VFGSKGVKFM PYTTYLVEKG ASHSFVAEAK PPTVTMPRIK
   121  ALMTGSLPGF VDVIRNLNSP ALLEDSVIRQ AKAAGKRIVF YGDETWVKLF PKHFVEYDGT
   181  TSFFVSDYTE VDNNVTRHLD KVLKRGDWDI LILHYLGLDH IGHISGPNSP LIGQKLSEMD
   241  SVLMKIHTSL QSKERETPLP NLLVLCGDHG MSETGSHGAS STEEVNTPLI LISSAFERKP
   301  GDIRHPKHVQ QTDVAATLAI ALGLPIPKDS VGSLLFPVVE GRPMREQLRF LHLNTVQLSK
   361  LLQENVPSYE KDPGFEQFKM SERLHGNWIR LYLEEKHSEV LFNLGSKVLR QYLDALKTLS
   421  LSLSAQVAQY DIYSMMVGTV VVLEVLTLLL LSVPQALRRK AELEVPLSSP GFSLLFYLVI
   481  LVLSAVHVIV CTSAESSCYF CGLSWLAAGG VMVLASALLC VIVSVLTNVL VGGNTPRKNP
   541  MHPSSRWSEL DLLILLGTAG HVLSLGASSF VEEEHQTWYF LVNTLCLALS QETYRNYFLG
   601  DDGEPPCGLC VEQGHDGATA AWQDGPGCDV LERDKGHGSP STSEVLRGRE KWMVLASPWL
   661  ILACCRLLRS LNQTGVQWAH RPDLGHWLTS SDHKAELSVL AALSLLVVFV LVQRGCSPVS
   721  KAALALGLLG VYCYRAAIGS VRFPWRPDSK DISKGIIEAR FVYVFVLGIL FTGTKDLLKS
   781  QVIAADFKLK TVGLWEIYSG LVLLAALLFR PHNLPVLAFS LLIQTLMTKF IWKPLRHDAA
   841  EITVMHYWFG QAFFYFQGNS NNIATVDISA GFVGLDTYVE IPAVLLTAFG TYAGPVLWAS
   901  HLVHFLSSET RSGSALSHAC FCYALICSIP VFTYIVLVTS LRYHLFIWSV FSPKLLYEGM
   961  HLLITAAVCV FFTAMDQTRL TQS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGG 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: 12
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 19 nTPM

Expression across tissuesHPA

Tissue

epididymis: 19 nTPM
skin: 19 nTPM
parathyroid gland: 17 nTPM
ovary: 15 nTPM
pituitary gland: 14 nTPM
salivary gland: 14 nTPM

Single-cell type

oocytes: 78 nCPM
somatotrophs: 62 nCPM
adrenal cortex cells: 43 nCPM
pituicytes/fscs: 40 nCPM
conjunctival goblet cells: 40 nCPM
renal collecting duct intercalated cells: 39 nCPM

Immune cell

basophil: 21 nTPM
T-reg: 8.3 nTPM
myeloid DC: 8.1 nTPM
NK-cell: 7.8 nTPM
plasmacytoid DC: 7.2 nTPM
MAIT T-cell: 6.7 nTPM

Brain region

white matter: 27 nTPM
choroid plexus: 23 nTPM
hippocampal formation: 22 nTPM
medulla oblongata: 21 nTPM
cerebral cortex: 21 nTPM
thalamus: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGG.

Disease | AllUniProt

Conditions PIGG is implicated in, by any mechanism.

Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) MIM:616917

Disease | GeneticClinVar

91 pathogenic / likely-pathogenic of 1,142 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal recessive 53
Emm-null phenotype
Inborn genetic diseases
PIGG-related disorder
BLOOD GROUP, EMM SYSTEM

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): 0.99
gnomAD pLI: 0
gnomAD missense Z: -0.17
DepMap mean gene effect: 0.11
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

phosphotransferase activity, for other substituted phosphate groups
transferase activity
CP2 mannose-ethanolamine phosphotransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
Alkaline-phosphatase-like, core domain superfamily
Type I phosphodiesterase / nucleotide pyrophosphatase
GPI ethanolamine phosphate transferase 2, N-terminal
GPI ethanolamine phosphate transferase 2
GPI ethanolamine phosphate transferase 2, C-terminal
GPI ethanolamine phosphate transferase membrane region

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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