PIGN (gene)

PIGN
Identifiers
Aliases	PIGN , MCAHS, MCAHS1, MCD4, MDC4, PIG-N, phosphatidylinositol glycan anchor biosynthesis class N
External IDs	OMIM: 606097 MGI: 1351629 HomoloGene: 6330 GeneCards: PIGN
Gene location (Human)
Chr.	Chromosome 18 (human)
End	62,187,118 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	105,591,402 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; islet of Langerhans; ; rectum; ; skin of abdomen; ; bone marrow cells; ; body of pancreas; ; monocyte; ; gallbladder; ; vagina; ; stomach;
	Top expressed in
	yolk sac; ; conjunctival fornix; ; spermatid; ; spermatocyte; ; ciliary body; ; urothelium; ; medullary collecting duct; ; retinal pigment epithelium; ; iris; ; renal corpuscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	catalytic activity ; transferase activity ; mannose-ethanolamine phosphotransferase activity ;
Cellular component	membrane ; integral component of membrane ; endoplasmic reticulum ; endoplasmic reticulum membrane ; cytosol ; plasma membrane ;
Biological process	preassembly of GPI anchor in ER membrane ; metabolism ; GPI anchor biosynthetic process ;
	Sources:Amigo / QuickGO
Orthologs
	23556
	27392
	ENSG00000197563
	ENSMUSG00000056536
	O95427
	Q9R1S3
	NM_012327 ; NM_176787
	NM_013784
	NP_036459 ; NP_789744
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated March 05, 2023

Phosphatidylinositol glycan anchor biosynthesis, class N is a protein that in humans is encoded by the PIGN gene.^[5]

Function

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.

Clinical aspect

Mutations in PIGN cause Congenital Diaphragmatic Hernia.^[6]

Related Research Articles

Glycosylphosphatidylinositol, or glycophosphatidylinositol, or GPI in short, is a phosphoglyceride that can be attached to the C-terminus of a protein during posttranslational modification. The resulting GPI-anchored proteins play key roles in a wide variety of biological processes. GPI is composed of a phosphatidylinositol group linked through a carbohydrate-containing linker and via an ethanolamine phosphate (EtNP) bridge to the C-terminal amino acid of a mature protein. The two fatty acids within the hydrophobic phosphatidyl-inositol group anchor the protein to the cell membrane.

In enzymology, a dolichol kinase is an enzyme that catalyzes the chemical reaction

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A is the catalytic subunit of the phosphatidylinositol N-acetylglucosaminyltransferase enzyme, which in humans is encoded by the PIGA gene.

GPI transamidase component PIG-T is an enzyme that in humans is encoded by the PIGT gene.

GPI-anchor transamidase is an enzyme that in humans is encoded by the PIGK gene.

Glycosylphosphatidylinositol anchor attachment 1 protein is a protein that in humans is encoded by the GPAA1 gene.

Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q is an enzyme that in humans is encoded by the PIGQ gene.

Dolichol-phosphate mannosyltransferase is an enzyme that in humans is encoded by the DPM1 gene.

Phosphatidylinositol N-acetylglucosaminyltransferase subunit C is an enzyme that in humans is encoded by the PIGC gene.

Phosphatidylinositol-glycan biosynthesis class F protein is a protein that in humans is encoded by the PIGF gene.

GPI transamidase component PIG-S is an enzyme that in humans is encoded by the PIGS gene. This gene encodes a protein that is involved in GPI-anchor biosynthesis.

Phosphatidylinositol glycan anchor biosynthesis class U protein is a protein that in humans is encoded by the PIGU gene.

GPI mannosyltransferase 3 is an enzyme that in humans is encoded by the PIGB gene.

Phosphatidylinositol N-acetylglucosaminyltransferase subunit H is an enzyme that in humans is encoded by the PIGH gene. The PIGH gene is located on the reverse strand of chromosome 14 in humans, and is neighbored by TMEM229B.

GPI mannosyltransferase 2 is an enzyme that in humans is encoded by the PIGV gene.

dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene.

Dolichol phosphate-mannose biosynthesis regulatory protein is a protein that in humans is encoded by the DPM2 gene.

Glypiation is the addition by covalent bonding of a glycosylphosphatidylinositol (GPI) anchor and is a common post-translational modification that localizes proteins to cell membranes. This special kind of glycosylation is widely detected on surface glycoproteins in eukaryotes and some Archaea.

Post-GPI attachment to proteins 1 is a protein that in humans is encoded by the PGAP1 gene.

Phosphatidylinositol glycan anchor biosynthesis class W is a protein that in humans is encoded by the PIGW gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000197563 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000056536 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: Phosphatidylinositol glycan anchor biosynthesis, class N".
↑ Brady PD, Moerman P, De Catte L, Deprest J, Devriendt K, Vermeesch JR (September 2014). "Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia". European Journal of Medical Genetics. 57 (9): 487–93. doi:10.1016/j.ejmg.2014.05.001. PMID 24852103.

Chen CP, Lin HM, Leung C, Lin SP, Su YN, Su JW, Chen YT, Wang W (2012). "Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations". Genetic Counseling. 23 (2): 201–6. PMID 22876578.
Kinoshita T, Inoue N (December 2000). "Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis". Current Opinion in Chemical Biology. 4 (6): 632–8. doi:10.1016/s1367-5931(00)00151-4. PMID 11102867.
Gaynor EC, Mondésert G, Grimme SJ, Reed SI, Orlean P, Emr SD (March 1999). "MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast". Molecular Biology of the Cell. 10 (3): 627–48. doi:10.1091/mbc.10.3.627. PMC 25192 . PMID 10069808.
Hong Y, Maeda Y, Watanabe R, Ohishi K, Mishkind M, Riezman H, Kinoshita T (December 1999). "Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol". The Journal of Biological Chemistry. 274 (49): 35099–106. doi: 10.1074/jbc.274.49.35099 . PMID 10574991.
McDonough CW, Bostrom MA, Lu L, Hicks PJ, Langefeld CD, Divers J, Mychaleckyj JC, Freedman BI, Bowden DW (December 2009). "Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping". Human Genetics. 126 (6): 805–17. doi:10.1007/s00439-009-0732-8. PMC 2937163 . PMID 19690890.
Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L (June 2011). "Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN". Journal of Medical Genetics. 48 (6): 383–9. doi:10.1136/jmg.2010.087114. PMID 21493957. S2CID 39973123.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000197563 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000056536 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Phosphatidylinositol glycan anchor biosynthesis, class N".

[6] Brady PD, Moerman P, De Catte L, Deprest J, Devriendt K, Vermeesch JR (September 2014). "Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia". European Journal of Medical Genetics. 57 (9): 487–93. doi:10.1016/j.ejmg.2014.05.001. PMID 24852103.

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PIGN (gene)

Contents

Function

Clinical aspect

Related Research Articles

References

Further reading