Seroatlas · Human Serome Atlas

PIGN

GPI ethanolamine phosphate transferase 1

Also known as: MCD4, PIG-N, PIGN_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O95427
Gene: PIGN
Ensembl: ENSG00000197563
Chromosome: 18
Canonical length: 931 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

931 residues, UniProt reviewed canonical sequence.

>O95427|PIGN
     1  MLLFFTLGLL IHFVFFASIF DIYFTSPLVH GMTPQFTPLP PPARRLVLFV ADGLRADALY
    61  ELDENGNSRA PFIRNIIMHE GSWGISHTRV PTESRPGHVA LIAGFYEDVS AVAKGWKENP
   121  VEFDSLFNES KYTWSWGSPD ILPMFAKGAS GDHVYTYSYD AKREDFGAQD ATKLDTWVFD
   181  NVKDFFHHAR NNQSLFSKIN EEKIVFFLHL LGIDTNGHAH RPSSRDYKHN IKKVDDGVKE
   241  IVSMFNHFYG NDGKTTFIFT SDHGMTDWGS HGAGHPSETL TPLVTWGAGI KYPQRVSAQQ
   301  FDDAFLKEWR LENWKRLDVN QADIAPLMTS LIGVPFPLNS VGILPVDYLN NTDLFKAESM
   361  FTNAVQILEQ FKVKMTQKKE VTLPFLFTPF KLLSDSKQFN ILRKARSYIK HRKFDEVVSL
   421  CKELIHLALK GLSYYHTYDR FFLGVNVVIG FVGWISYASL LIIKSHSNLI KGVSKEVKKP
   481  SHLLPCSFVA IGILVAFFLL IQACPWTYYV YGLLPLPIWY AVLREFQVIQ DLVVSVLTYP
   541  LSHFVGYLLA FTLGIEVLVL SFFYRYMLTA GLTAFAAWPF LTRLWTRAKM TSLSWTFFSL
   601  LLAVFPLMPV VGRKPDISLV MGAGLLVLLL SLCVVTSLMK RKDSFIKEEL LVHLLQVLST
   661  VLSMYVVYST QSSLLRKQGL PLMNQIISWA TLASSLVVPL LSSPVLFQRL FSILLSLMST
   721  YLLLSTGYEA LFPLVLSCLM FVWINIEQET LQQSGVCCKQ KLTSIQFSYN TDITQFRQLY
   781  LDDIRRAFFL VFFLVTAFFG TGNIASINSF DLASVYCFLT VFSPFMMGAL MMWKILIPFV
   841  LVMCAFEAVQ LTTQLSSKSL FLIVLVISDI MALHFFFLVK DYGSWLDIGT SISHYVIVMS
   901  MTIFLVFLNG LAQLLTTKKL RLCGKPKSHF M

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGN 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: 15
Mean surface accessibility (rSASA): 0.24
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

retina: 21 nTPM
esophagus: 20 nTPM
stomach: 17 nTPM
rectum: 16 nTPM
skin: 16 nTPM
testis: 15 nTPM

Single-cell type

prostatic glandular cells: 241 nCPM
choroid plexus epithelial cells: 169 nCPM
esophageal apical cells: 154 nCPM
lacrimal acinar cells: 145 nCPM
gonadotrophs: 142 nCPM
oligodendrocytes: 137 nCPM

Immune cell

NK-cell: 11 nTPM
myeloid DC: 8.3 nTPM
plasmacytoid DC: 8.1 nTPM
naive CD8 T-cell: 7 nTPM
non-classical monocyte: 6.9 nTPM
naive B-cell: 6.7 nTPM

Brain region

cerebellum: 173 nTPM
cerebral cortex: 168 nTPM
white matter: 168 nTPM
hypothalamus: 139 nTPM
amygdala: 131 nTPM
basal ganglia: 131 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGN.

Disease | AllUniProt

Conditions PIGN is implicated in, by any mechanism.

Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) MIM:614080

Disease | GeneticClinVar

187 pathogenic / likely-pathogenic of 1,390 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Multiple congenital anomalies-hypotonia-seizures syndrome 1
Inborn genetic diseases
Multiple congenital anomalies-hypotonia-seizures syndrome
Fetal anomalies with a likely genetic cause

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): 1.02
gnomAD pLI: 0
gnomAD missense Z: 0.42
DepMap mean gene effect: -0.06
DepMap dependency class: none

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

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 1
GPI ethanolamine phosphate transferase 1, C-terminal
GPI ethanolamine phosphate transferase 1, N-terminal
Phosphatidylinositolglycan class N (PIG-N)

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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