PIGN (gene)

Protein-coding gene in the species Homo sapiens

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

[edit]

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

[edit]

Mutations in PIGN cause Congenital Diaphragmatic Hernia.[6]

## References

[edit]

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

[edit]

* 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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