PIGN (gene): Difference between revisions

Jump to navigation Jump to search
VisualWikitext
(wikilink)
 
m (1 revision imported)
 
(One intermediate revision by one other user not shown)
Line 1: Line 1:
{{Underlinked|date=May 2014}}
{{Infobox_gene}}
{{Infobox_gene}}
'''Phosphatidylinositol glycan anchor biosynthesis, class N''' is a [[protein]] that in humans is encoded by the PIGN [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Phosphatidylinositol glycan anchor biosynthesis, class N | url = https://www.ncbi.nlm.nih.gov/gene/23556}}</ref>


'''Phosphatidylinositol glycan anchor biosynthesis, class N''' is a [[protein]] that in humans is encoded by the PIGN [[gene]].
== Function ==
<ref name="entrez">
{{cite web
| title = Entrez Gene: Phosphatidylinositol glycan anchor biosynthesis, class N
| url = https://www.ncbi.nlm.nih.gov/gene/23556
| accessdate = 2014-05-26 <!-- T00:48:12.193410-08:00 -->
}}</ref>


==Function==
This gene encodes a protein that is involved in [[glycosylphosphatidylinositol]] (GPI)-anchor biosynthesis. The GPI-anchor is a [[glycolipid]] found on many [[Blood cell|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.
 
This [[gene]] encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many [[Blood cell|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].


==Clinical aspect==
==Clinical aspect==
[[Mutation|Mutations]] in PIGN cause {{SWL|type=mutation_results_in|target=Congenital Diaphragmatic Hernia|label=Congenital Diaphragmatic Hernia}}.<ref>{{Cite journal
[[Mutation|Mutations]] in PIGN cause {{SWL|type=mutation_results_in|target=Congenital Diaphragmatic Hernia|label=Congenital Diaphragmatic Hernia}}.<ref>{{cite journal | vauthors = Brady PD, Moerman P, De Catte L, Deprest J, Devriendt K, Vermeesch JR | title = Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia | journal = European Journal of Medical Genetics | volume = 57 | issue = 9 | pages = 487–93 | date = September 2014 | pmid = 24852103 | doi = 10.1016/j.ejmg.2014.05.001 }}</ref>
| pmid = 24852103
| year = 2014
| author1 = Brady
| first1 = P. D.
| title = Exome Sequencing Identifies a recessive PIGN splice site mutation as a cause of Syndromic Congenital Diaphragmatic Hernia
| journal = European Journal of Medical Genetics
| last2 = Moerman
| first2 = P
| last3 = De Catte
| first3 = L
| last4 = Deprest
| first4 = J
| last5 = Devriendt
| first5 = K
| last6 = Vermeesch
| first6 = J. R.
| doi = 10.1016/j.ejmg.2014.05.001
| volume=57
| pages=487–493
}}</ref>


== References ==
== References ==
Line 44: Line 16:


{{refbegin | 2}}
{{refbegin | 2}}
*{{Cite journal
* {{cite journal | vauthors = Chen CP, Lin HM, Leung C, Lin SP, Su YN, Su JW, Chen YT, Wang W | title = Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations | journal = Genetic Counseling | volume = 23 | issue = 2 | pages = 201–6 | year = 2012 | pmid = 22876578 }}
| pmid = 22876578
* {{cite journal | vauthors = Kinoshita T, Inoue N | title = Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis | journal = Current Opinion in Chemical Biology | volume = 4 | issue = 6 | pages = 632–8 | date = December 2000 | pmid = 11102867 | doi = 10.1016/s1367-5931(00)00151-4 }}
| year = 2012
* {{cite journal | vauthors = Gaynor EC, Mondésert G, Grimme SJ, Reed SI, Orlean P, Emr SD | title = MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast | journal = Molecular Biology of the Cell | volume = 10 | issue = 3 | pages = 627–48 | date = March 1999 | pmid = 10069808 | pmc = 25192 | doi = 10.1091/mbc.10.3.627 }}
| author1 = Chen
* {{cite journal | vauthors = Hong Y, Maeda Y, Watanabe R, Ohishi K, Mishkind M, Riezman H, Kinoshita T | title = Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol | journal = The Journal of Biological Chemistry | volume = 274 | issue = 49 | pages = 35099–106 | date = December 1999 | pmid = 10574991 | doi = 10.1074/jbc.274.49.35099 }}
| first1 = C. P.
* {{cite journal | vauthors = McDonough CW, Bostrom MA, Lu L, Hicks PJ, Langefeld CD, Divers J, Mychaleckyj JC, Freedman BI, Bowden DW | title = Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping | journal = Human Genetics | volume = 126 | issue = 6 | pages = 805–17 | date = December 2009 | pmid = 19690890 | pmc = 2937163 | doi = 10.1007/s00439-009-0732-8 }}
| title = Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations
* {{cite journal | vauthors = 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 | title = Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN | journal = Journal of Medical Genetics | volume = 48 | issue = 6 | pages = 383–9 | date = June 2011 | pmid = 21493957 | doi = 10.1136/jmg.2010.087114 }}
| journal = Genetic counseling (Geneva, Switzerland)
| volume = 23
| issue = 2
| pages = 201-6
| last2 = Lin
| first2 = H. M.
| last3 = Leung
| first3 = C
| last4 = Lin
| first4 = S. P.
| last5 = Su
| first5 = Y. N.
| last6 = Su
| first6 = J. W.
| last7 = Chen
| first7 = Y. T.
| last8 = Wang
| first8 = W
}}
*{{Cite journal
| pmid = 11102867
| year = 2000
| author1 = Kinoshita
| first1 = T
| title = Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis
| journal = Current Opinion in Chemical Biology
| volume = 4
| issue = 6
| pages = 632–8
| last2 = Inoue
| first2 = N
| doi=10.1016/s1367-5931(00)00151-4
}}
*{{Cite journal
| pmid = 10069808
| year = 1999
| author1 = Gaynor
| first1 = E. C.
| title = MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast
| journal = Molecular Biology of the Cell
| volume = 10
| issue = 3
| pages = 627–48
| last2 = Mondésert
| first2 = G
| last3 = Grimme
| first3 = S. J.
| last4 = Reed
| first4 = S. I.
| last5 = Orlean
| first5 = P
| last6 = Emr
| first6 = S. D.
| pmc = 25192
| doi=10.1091/mbc.10.3.627
}}
*{{Cite journal
| pmid = 10574991
| year = 1999
| author1 = Hong
| first1 = Y
| title = Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol
| journal = The Journal of Biological Chemistry
| volume = 274
| issue = 49
| pages = 35099–106
| last2 = Maeda
| first2 = Y
| last3 = Watanabe
| first3 = R
| last4 = Ohishi
| first4 = K
| last5 = Mishkind
| first5 = M
| last6 = Riezman
| first6 = H
| last7 = Kinoshita
| first7 = T
| doi=10.1074/jbc.274.49.35099
}}
*{{Cite journal
| pmid = 19690890
| year = 2009
| author1 = McDonough
| first1 = C. W.
| title = Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: Linkage analysis and dense SNP mapping
| journal = Human Genetics
| volume = 126
| issue = 6
| pages = 805–17
| last2 = Bostrom
| first2 = M. A.
| last3 = Lu
| first3 = L
| last4 = Hicks
| first4 = P. J.
| last5 = Langefeld
| first5 = C. D.
| last6 = Divers
| first6 = J
| last7 = Mychaleckyj
| first7 = J. C.
| last8 = Freedman
| first8 = B. I.
| last9 = Bowden
| first9 = D. W.
| doi = 10.1007/s00439-009-0732-8
| pmc = 2937163
 
}}
*{{Cite journal
| pmid = 21493957
| year = 2011
| author1 = Maydan
| first1 = G
| title = Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
| journal = Journal of Medical Genetics
| volume = 48
| issue = 6
| pages = 383–9
| last2 = Noyman
| first2 = I
| last3 = Har-Zahav
| first3 = A
| last4 = Neriah
| first4 = Z. B.
| last5 = Pasmanik-Chor
| first5 = M
| last6 = Yeheskel
| first6 = A
| last7 = Albin-Kaplanski
| first7 = A
| last8 = Maya
| first8 = I
| last9 = Magal
| first9 = N
| last10 = Birk
| first10 = E
| last11 = Simon
| first11 = A. J.
| last12 = Halevy
| first12 = A
| last13 = Rechavi
| first13 = G
| last14 = Shohat
| first14 = M
| last15 = Straussberg
| first15 = R
| last16 = Basel-Vanagaite
| first16 = L
| doi = 10.1136/jmg.2010.087114
}}


{{refend}}
{{refend}}


{{NLM content}}
{{NLM content}}


{{gene-18-stub}}
{{gene-18-stub}}

Latest revision as of 09:04, 9 January 2019

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Phosphatidylinositol glycan anchor biosynthesis, class N is a protein that in humans is encoded by the PIGN gene.[1]

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 .[2]

References

  1. ↑ "Entrez Gene: Phosphatidylinositol glycan anchor biosynthesis, class N".
  2. ↑ 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

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


Retrieved from "https://www.wikidoc.org/index.php?title=PIGN_(gene)&oldid=1517465"