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Guidelines

MIRAGE

phosphatidylinositol glycan anchor biosynthesis class N

Summary

Gene Symbol

PIGN

Aliases

GPI ethanolamine phosphate transferase 1
MCD4
PIG-N

Organism

Homo sapiens (human)

External Links

NCBI Gene

23556

GGDB ID

gg224

HGNC

8967

mRNA

NM_176787

map

18q21.33

Protein

NP_789744

OMIM

606097

KEGG Gene ID

hsa:23556

PubChem

23556

Alliance of Genome Resources

HGNC:8967

JoGo

PIGN

TogoVar

PIGN

Annotation

Keyword

Disease variant
Endoplasmic reticulum
Epilepsy
GPI-anchor biosynthesis
Glycoprotein
Proteomics identification
Reference proteome
Transferase
Transmembrane helix

Proteins

Displaying **all 4** entries
UniProt	Protein Name
O95427	GPI-ethanolamine transferase I MCD4 homolog Phosphatidylinositol-glycan biosynthesis class N protein
A0A1W2PPR7
A0A1W2PNR0
A0A1W2PQA9

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
GPI anchor biosynthetic process	ISS
GPI anchor biosynthetic process	TAS
GPI anchor biosynthetic process	IBA
GPI anchor biosynthetic process	IEA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

carbohydrate derivative biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

GPI anchor biosynthetic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

carbohydrate derivative metabolic process [inference]

carbohydrate derivative biosynthetic process [inference]

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

GPI anchor metabolic process [inference]

GPI anchor biosynthetic process

glycolipid biosynthetic process [inference]

GPI anchor biosynthetic process

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	ISS
endoplasmic reticulum membrane	TAS
endoplasmic reticulum membrane	IBA
endoplasmic reticulum membrane	IEA
cytosol	IDA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

cytosol

plasma membrane

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying **all 5** entries
GO Term	Evidence Code	PMID
transferase activity	IEA
mannose-ethanolamine phosphotransferase activity	ISS
mannose-ethanolamine phosphotransferase activity	TAS
mannose-ethanolamine phosphotransferase activity	IBA
mannose-ethanolamine phosphotransferase activity	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity

transferase activity, transferring phosphorus-containing groups [inference]

phosphotransferase activity, for other substituted phosphate groups [inference]

mannose-ethanolamine phosphotransferase activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000197563

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg224

Gene Symbol

PIGN

KEGG BRITE Database

Orthology

K05285

Name

GPI ethanolamine phosphate transferase 1 [EC:2.7.-.-]

References

10069808

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1	Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of **145** in total

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HPO ID	HPO Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000034	Hydrocele testis
HP:0000047	Hypospadias
HP:0000072	Hydroureter
HP:0000073	Ureteral duplication
HP:0000076	Vesicoureteral reflux
HP:0000110	Renal dysplasia
HP:0000126	Hydronephrosis

Displaying **all 3** entries
Disease ID	Disease Name
ORPHA:280633	multiple congenital anomalies-hypotonia-seizures syndrome 1
OMIM:614080	multiple congenital anomalies-hypotonia-seizures syndrome 1
ORPHA:2059	Fryns syndrome

PubChem Disease

MedGen Diseases

Multiple congenital anomalies-hypotonia-seizures syndrome 1

OMIM Phenotypes

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP003538
Gene Name: phosphatidylinositol glycan anchor biosynthesis, class N

Ortholog

Displaying **all 2** entries
Species	Gene ID	Alliance of Genome Resources
Caenorhabditis elegans	171881	WB:WBGene00021840
Saccharomyces cerevisiae S288C	853690	SGD:S000001648

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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GlyCosmos Portal v4.5.0

Last updated: April 6, 2026