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; OMA:PIGN - orthologs
Gene location (Human) Chr. Chromosome 18 (human) [1] Band 18q21.33 Start 61,905,255 bp [1] End 62,187,118 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 E2.1 Start 105,446,147 bp [2] End 105,591,402 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell Achilles tendon epithelium of colon testicle islet of Langerhans rectum Epithelium of choroid plexus ventricular zone skin of abdomen gonad Top expressed in yolk sac conjunctival fornix vestibular sensory epithelium spermatid spermatocyte ciliary body urothelium medullary collecting duct lumbar subsegment of spinal cord retinal pigment epithelium More reference expression data BioGPS 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 Species Human Mouse Entrez 23556 27392 Ensembl ENSG00000197563 ENSMUSG00000056536 UniProt O95427 Q9R1S3 RefSeq (mRNA) NM_012327 NM_176787 NM_013784 RefSeq (protein) NP_036459 NP_789744 n/a Location (UCSC) Chr 18: 61.91 – 62.19 Mb Chr 1: 105.45 – 105.59 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000197563 – Ensembl, May 2017
2. 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.
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.

Further reading

• 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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.