PIGN - phosphatidylinositol glycan anchor biosynthesis class N Gene

Also Known as MCD4; MDC4; MCAHS; PIG-N; MCAHS1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23556

About PIGN

Cytogenetic location: 18q21.33 Genomic coordinates (GRCh38): 18:62,017,615-62,187,056 (from NCBI)

This gene has 51 transcripts (splice variants), 215 orthologues and is associated with 5 phenotypes. Ubiquitous expression in esophagus (RPKM 8.5), thyroid (RPKM 7.2) and 25 other tissues.

Summary

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]

PIGN Products (2)

mRNA Protein Name
NM_012327.6 NP_036459.1 GPI ethanolamine phosphate transferase 1
NM_176787.5 NP_789744.1 GPI ethanolamine phosphate transferase 1

PIGN Protein Structure

Phosphodiest

Phosphodiest: Type I phosphodiesterase / nucleotide pyrophosphatase (46 - 324)

PigN

PigN: Phosphatidylinositolglycan class N (PIG-N) (430 - 884)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 931 a.a.
Protein Preferred Names Protein Names

GPI ethanolamine phosphate transferase 1

  • MCD4 homolog

Related Diseases

Diseases Alias
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

  • MCAHS1

  • Glycosylphosphatidylinositol Biosynthesis Defect 3

  • Gpibd3

  • Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

  • Pign-Cdg

  • Congenital Disorder Of Glycosylation Due To Pign Deficiency

  • Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

  • Mcahs1
Fryns Syndrome

  • Diaphragmatic Hernia, Abnormal Face, And Distal Limb Anomalies

  • FRNS

  • Moerman Van Den Berghe Fryns Syndrome

  • Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome

  • Nephrotic Syndrome - Frequently Relapsing
Alkuraya-Kucinskas Syndrome

  • ALKKUCS

  • Kiaa1109-Related Early Lethal Congenital Brain Malformations-Arthrogryposis Syndrome

  • Arthrogryposis
Hypotonia
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4

  • MCAHS4

  • Glycosylphosphatidylinositol Biosynthesis Defect 19

  • Gpibd19

  • Developmental And Epileptic Encephalopathy 77

  • Epileptic Encephalopathy, Early Infantile, 77

  • Dee77

  • Eiee77

  • Developmental And Epileptic Encephalopathy, 77

  • Early Infantile Epileptic Encephalopathy 77

  • Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-4
Developmental And Epileptic Encephalopathy 80

  • DEE80

  • Glycosylphosphatidylinositol Biosynthesis Defect 20

  • Gpibd20

  • Epileptic Encephalopathy, Early Infantile, 80

  • Eiee80

  • Developmental And Epileptic Encephalopathy, 80

  • Early Infantile Epileptic Encephalopathy 80
Diaphragm Disease

  • Abnormality Of The Diaphragm

  • Disease Of Diaphragm

  • Diaphragmatic Disorder

  • Disorder Of Diaphragm
Dihydropyrimidinase Deficiency

  • Dihydropyrimidinuria

  • Dpys Deficiency

  • Dph Deficiency

  • DPYSD

  • Dihydrouracil Amidohydrolase Deficiency

  • Dihydropyrimidinuria Due To Dpys Deficiency
Diaphragmatic Hernia, Congenital

  • Congenital Diaphragmatic Hernia

  • Diaphragmatic Hernia

  • Cdh

  • Congenital Diaphragmatic Defect

  • Hernia, Diaphragmatic

  • Dih

  • Hernia, Congenital Diaphragmatic

  • Hcd

  • Diaphragmatic Defect, Congenital

  • Diaphragm, Unilateral Agenesis Of

  • Hemidiaphragm, Agenesis Of

  • Diaphragmatic Hernia 1

  • Agenesis Of Hemidiaphragm

  • Unilateral Agenesis Of Diaphragm

  • Hernia Diaphragmatic

  • Hernia Diaphragmatic Congenital

  • Hernia, Diaphragmatic, Type 1

  • Hiatus Hernia

  • Oesophageal Hiatus Hernia

  • Paraoesophageal Hernia

  • Sliding Hiatus Hernia

  • Congenital Diaphragm Hernia

  • Congenital Diaphragm Defect With Hernia

  • Gross Congenital Diaphragm Defect
Agnathia-Otocephaly Complex

  • Otocephaly

  • Holoprosencephaly-Agnathia

  • Dysgnathia Complex Agnathia-Holoprosencephaly

  • AGOTC

  • Agnathia-Holoprosencephaly-Situs Inversus Syndrome

  • Dysgnathia Complex

  • Agnathia-Holoprosencephaly

  • Cervical Auricle
Familial Febrile Seizures

  • Familial Febrile Convulsions

  • Feb

  • Febrile Seizures, Familial
Autosomal Recessive Intellectual Developmental Disorder

  • Mental Retardation, Autosomal Recessive

  • Autosomal Recessive Mental Retardation

  • Autosomal Recessive Non-Syndromic Mental Retardation

  • Autosomal Recessive Non-Syndromic Intellectual Disability
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10496 PIGN Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus PIGN VGNC VGNC:32873
Rattus norvegicus PIGN RGD RGD:1311346
Felis catus PIGN VGNC VGNC:68847
Canis familiaris PIGN VGNC VGNC:44538
Mus musculus PIGN MGD MGI:1351629
Macaca mulatta PIGN VGNC VGNC:75990
Others PIGN NCBI