PIGN (gene)

PIGN

Identifiers

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)^[1]

Band	18q21.33	Start	61,905,255 bp^[1]
Band	18q21.33	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]
Band	1\|1 E2.1	End	105,591,402 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000197563 - Ensembl, May 2017
^ ^a ^b ^c 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.

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

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This page was last edited on 4 March 2023, at 11:21

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Function

Clinical aspect

References

Further reading