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
HGNC
8967
mRNA
map
  • 18q21.33
Protein
OMIM
KEGG Gene ID
hsa:23556
PubChem
23556
Alliance of Genome Resources
Annotation
Keyword
  • Disease variant
  • Endoplasmic reticulum
  • Epilepsy
  • GPI-anchor biosynthesis
  • Glycoprotein
  • Proteomics identification
  • Reference proteome
  • Transferase
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
O95427
  • MCD4 homolog
  • Phosphatidylinositol-glycan biosynthesis class N protein
A0A1W2PQA9
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
GPI anchor biosynthetic process
preassembly of GPI anchor in ER membrane
GO Hierarchy
Human Protein Atlas
ENSG00000197563

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

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

GlycoGene Database (GGDB)
GGDB ID
gg224
Gene Symbol
  • PIGN
KEGG BRITE Database
Orthology
K05285
Name
GPI ethanolamine phosphate transferase 1 [EC:2.7.-.-]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 83 in total
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:0050778 Meckel syndrome
DOID:0050841 focal hand dystonia
DOID:0050908 myelodysplastic syndrome
DOID:0060321 umbilical hernia
DOID:0060327 omphalocele
DOID:0060402 chromosome 17p13.1 deletion syndrome
DOID:0060469 Miller-Dieker lissencephaly syndrome
DOID:0060645 chronic recurrent multifocal osteomyelitis
DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 145 in total
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
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP003538
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class N

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024