PCDH11X: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Protocadherin 11 X-linked''', also known as '''PCDH11X''', is a [[protein]] which in humans is encoded by the ''PCDH11X'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PCDH11X protocadherin 11 X-linked| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27328| accessdate = }}</ref><ref name="pmid10644456">{{cite journal | vauthors = Yoshida K, Sugano S | title = Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3 | journal = Genomics | volume = 62 | issue = 3 | pages = 540–3 |date=December 1999 | pmid = 10644456 | doi = 10.1006/geno.1999.6042 | url = }}</ref>
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== Function ==
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This gene belongs to the [[protocadherin]] gene family, a subfamily of the [[cadherin]] superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog ([[PCDHY]]), despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in [[cell–cell recognition]] essential for the segmental development and function of the [[central nervous system]]. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains.<ref name="entrez"/>
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== Clinical significance ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Protocadherin 11 X-linked
| HGNCid = 8656
| Symbol = PCDH11X
| AltSymbols =; PCDH-X; PCDH11; PCDHX; PCDHY; PCDH11X; PCDH22
| OMIM = 300246
| ECnumber = 
| Homologene = 13194
| MGIid = 2442849
| GeneAtlas_image1 = PBB_GE_PCDH11X_211227_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_PCDH11X_217049_x_at_tn.png
| Function = {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007156 |text = homophilic cell adhesion}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 27328
    | Hs_Ensembl = ENSG00000099715
    | Hs_RefseqProtein = NP_055337
    | Hs_RefseqmRNA = NM_014522
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = Y
    | Hs_GenLoc_start = 4928267
    | Hs_GenLoc_end = 5665983
    | Hs_Uniprot = Q9BZA8
    | Mm_EntrezGene = 245578
    | Mm_Ensembl = ENSMUSG00000034755
    | Mm_RefseqmRNA = XM_911050
    | Mm_RefseqProtein = XP_916143
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 116407203
    | Mm_GenLoc_end = 117022797
    | Mm_Uniprot = 
  }}
}}
'''Protocadherin 11 X-linked''', also known as '''PCDH11X''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PCDH11X protocadherin 11 X-linked| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27328| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
In a [[genome-wide association study]], the PCDH11X gene has been linked as a risk factor in late onset [[Alzheimer's disease]],<ref name="Carrasquillo_2009">{{cite journal | vauthors = Carrasquillo MM, Zou F, Pankratz VS, Wilcox SL, Ma L, Walker LP, Younkin SG, Younkin CS, Younkin LH, Bisceglio GD, Ertekin-Taner N, Crook JE, Dickson DW, Petersen RC, Graff-Radford NR, Younkin SG | title = Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease | journal = Nat. Genet. | volume = 41 | issue = 2 | pages = 192–8 |date=February 2009 | pmid = 19136949 | pmc = 2873177 | doi = 10.1038/ng.305 }}</ref> but other studies on different populations <ref name="Lescai_2010">{{cite journal | vauthors = Lescai F, Pirazzini C, D'Agostino G, Santoro A, Ghidoni R, Benussi L, Galimberti D, Federica E, Marchegiani F, Cardelli M, Olivieri F, Nacmias B, Sorbi S, Bagnoli S, Tagliavini F, Albani D, Martinelli Boneschi F, Binetti G, Forloni G, Quadri P, Scarpini E, Franceschi C | title = Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients | journal = J. Alzheimers Dis. | volume = 21 | issue = 2 | pages = 385–8 | year = 2010 | pmid = 20555150 | doi = 10.3233/JAD-2010-091516 }}</ref><ref name = "Beecham_2010">{{cite journal | vauthors = Beecham GW, Naj AC, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA | title = PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility | journal = Psychiatr. Genet. | volume = 20 | issue = 6 | pages = 321–4 |date=December 2010 | pmid = 20523261 | pmc = 2964434 | doi = 10.1097/YPG.0b013e32833b635d }}</ref><ref name="Wu_2010">{{cite journal | vauthors = Wu ZC, Yu JT, Wang ND, Yu NN, Zhang Q, Chen W, Zhang W, Zhu QX, Tan L | title = Lack of association between PCDH11X genetic variation and late-onset Alzheimer's disease in a Han Chinese population | journal = Brain Res. | volume = 1357 | issue = | pages = 152–6 |date=October 2010 | pmid = 20707987 | doi = 10.1016/j.brainres.2010.08.008 }}</ref><ref name="Miar_2011">{{cite journal | vauthors = Miar A, Alvarez V, Corao AI, Alonso B, Díaz M, Menéndez M, Martínez C, Calatayud M, Morís G, Coto E | title = Lack of association between protocadherin 11-X/Y (PCDH11X and PCDH11Y) polymorphisms and late onset Alzheimer's disease | journal = Brain Research | issue = 1383 | pages = 252–6 | year = 2011 | pmid = 21276771 | doi = 10.1016/j.brainres.2011.01.054 | volume=1383}}</ref> could not confirm the initial association. The clinical significance of this gene is unclear, and the gene might play different roles in different population specific contexts.
{{PBB_Summary
| section_title =  
| summary_text = This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains.<ref name="entrez">{{cite web | title = Entrez Gene: PCDH11X protocadherin 11 X-linked| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27328| accessdate = }}</ref>
}}


==References==
==References==
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{{reflist}}
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==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Yagi T, Takeichi M |title=Cadherin superfamily genes: functions, genomic organization, and neurologic diversity. |journal=Genes Dev. |volume=14 |issue= 10 |pages= 1169-80 |year= 2000 |pmid= 10817752 |doi=  }}
*{{cite journal  | vauthors=Yagi T, Takeichi M |title=Cadherin superfamily genes: functions, genomic organization, and neurologic diversity |journal=Genes Dev. |volume=14 |issue= 10 |pages= 1169–80 |year= 2000 |pmid= 10817752 |doi=  10.1101/gad.14.10.1169|doi-broken-date=2018-09-06 }}
*{{cite journal  | author=Nollet F, Kools P, van Roy F |title=Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members. |journal=J. Mol. Biol. |volume=299 |issue= 3 |pages= 551-72 |year= 2000 |pmid= 10835267 |doi= 10.1006/jmbi.2000.3777 }}
*{{cite journal  | vauthors=Nollet F, Kools P, van Roy F |title=Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members |journal=J. Mol. Biol. |volume=299 |issue= 3 |pages= 551–72 |year= 2000 |pmid= 10835267 |doi= 10.1006/jmbi.2000.3777 }}
*{{cite journal | author=Andersson B, Wentland MA, Ricafrente JY, ''et al.'' |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107-13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
*{{cite journal   |vauthors=Andersson B, Wentland MA, Ricafrente JY, etal |title=A "double adaptor" method for improved shotgun library construction |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
*{{cite journal | author=Yu W, Andersson B, Worley KC, ''et al.'' |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353-8 |year= 1997 |pmid= 9110174 |doi=  }}
*{{cite journal   |vauthors=Yu W, Andersson B, Worley KC, etal |title=Large-scale concatenation cDNA sequencing |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi= 10.1101/gr.7.4.353| pmc=139146 }}
*{{cite journal  | author=Yoshida K, Sugano S |title=Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3. |journal=Genomics |volume=62 |issue= 3 |pages= 540-3 |year= 2000 |pmid= 10644456 |doi= 10.1006/geno.1999.6042 }}
*{{cite journal  | vauthors=Yoshida K, Sugano S |title=Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3 |journal=Genomics |volume=62 |issue= 3 |pages= 540–3 |year= 2000 |pmid= 10644456 |doi= 10.1006/geno.1999.6042 }}
*{{cite journal  | author=Wu Q, Maniatis T |title=Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3124-9 |year= 2000 |pmid= 10716726 |doi= 10.1073/pnas.060027397 }}
*{{cite journal  | vauthors=Wu Q, Maniatis T |title=Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3124–9 |year= 2000 |pmid= 10716726 |doi= 10.1073/pnas.060027397 | pmc=16203 }}
*{{cite journal | author=Nagase T, Kikuno R, Ishikawa KI, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=7 |issue= 1 |pages= 65-73 |year= 2000 |pmid= 10718198 |doi=  }}
*{{cite journal   |vauthors=Nagase T, Kikuno R, Ishikawa KI, etal |title=Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro |journal=DNA Res. |volume=7 |issue= 1 |pages= 65–73 |year= 2000 |pmid= 10718198 |doi=10.1093/dnares/7.1.65 }}
*{{cite journal | author=Blanco P, Sargent CA, Boucher CA, ''et al.'' |title=Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain. |journal=Mamm. Genome |volume=11 |issue= 10 |pages= 906-14 |year= 2000 |pmid= 11003707 |doi=  }}
*{{cite journal   |vauthors=Blanco P, Sargent CA, Boucher CA, etal |title=Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain |journal=Mamm. Genome |volume=11 |issue= 10 |pages= 906–14 |year= 2000 |pmid= 11003707 |doi=10.1007/s003350010177 }}
*{{cite journal | author=Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, ''et al.'' |title=The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. |journal=Nature |volume=423 |issue= 6942 |pages= 825-37 |year= 2003 |pmid= 12815422 |doi= 10.1038/nature01722 }}
*{{cite journal   |vauthors=Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, etal |title=The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes |journal=Nature |volume=423 |issue= 6942 |pages= 825–37 |year= 2003 |pmid= 12815422 |doi= 10.1038/nature01722 }}
*{{cite journal  | author=Agate RJ, Choe M, Arnold AP |title=Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches. |journal=Mol. Biol. Evol. |volume=21 |issue= 2 |pages= 384-96 |year= 2004 |pmid= 14660691 |doi= 10.1093/molbev/msh027 }}
*{{cite journal  | vauthors=Agate RJ, Choe M, Arnold AP |title=Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches |journal=Mol. Biol. Evol. |volume=21 |issue= 2 |pages= 384–96 |year= 2004 |pmid= 14660691 |doi= 10.1093/molbev/msh027 }}
*{{cite journal  | author=Blanco-Arias P, Sargent CA, Affara NA |title=Protocadherin X ( PCDHX) and Y ( PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains. |journal=Mamm. Genome |volume=15 |issue= 1 |pages= 41-52 |year= 2004 |pmid= 14727141 |doi= 10.1007/s00335-003-3028-7 }}
*{{cite journal  | vauthors=Blanco-Arias P, Sargent CA, Affara NA |title=Protocadherin X ( PCDHX) and Y ( PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains |journal=Mamm. Genome |volume=15 |issue= 1 |pages= 41–52 |year= 2004 |pmid= 14727141 |doi= 10.1007/s00335-003-3028-7 |title-link=PCDHY }}
*{{cite journal | author=Ross MT, Grafham DV, Coffey AJ, ''et al.'' |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325-37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 }}
*{{cite journal   |vauthors=Ross MT, Grafham DV, Coffey AJ, etal |title=The DNA sequence of the human X chromosome |journal=Nature |volume=434 |issue= 7031 |pages= 325–37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 | pmc=2665286 }}
*{{cite journal  | author=Wilson ND, Ross LJ, Crow TJ, Volpi EV |title=PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes. |journal=Cytogenet. Genome Res. |volume=114 |issue= 2 |pages= 137-9 |year= 2006 |pmid= 16825765 |doi= 10.1159/000093329 }}
*{{cite journal  | vauthors=Wilson ND, Ross LJ, Crow TJ, Volpi EV |title=PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes |journal=Cytogenet. Genome Res. |volume=114 |issue= 2 |pages= 137–9 |year= 2006 |pmid= 16825765 |doi= 10.1159/000093329 }}
*{{cite journal  | vauthors=Williams NA, Close JP, Giouzeli M, Crow TJ |title=Accelerated evolution of Protocadherin11X/Y: A candidate gene-pair for cerebral asymmetry and language |journal=American Journal of Medical Genetics Part B |volume=141B |pages= 623–633 |year= 2006 |doi= 10.1002/ajmg.b.30357  | pmid=16874762  | issue=6 }}
}}
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Latest revision as of 00:08, 6 September 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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

Protocadherin 11 X-linked, also known as PCDH11X, is a protein which in humans is encoded by the PCDH11X gene.[1][2]

Function

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog (PCDHY), despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell–cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains.[1]

Clinical significance

In a genome-wide association study, the PCDH11X gene has been linked as a risk factor in late onset Alzheimer's disease,[3] but other studies on different populations [4][5][6][7] could not confirm the initial association. The clinical significance of this gene is unclear, and the gene might play different roles in different population specific contexts.

References

  1. ↑ 1.0 1.1 "Entrez Gene: PCDH11X protocadherin 11 X-linked".
  2. ↑ Yoshida K, Sugano S (December 1999). "Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3". Genomics. 62 (3): 540–3. doi:10.1006/geno.1999.6042. PMID 10644456.
  3. ↑ Carrasquillo MM, Zou F, Pankratz VS, Wilcox SL, Ma L, Walker LP, Younkin SG, Younkin CS, Younkin LH, Bisceglio GD, Ertekin-Taner N, Crook JE, Dickson DW, Petersen RC, Graff-Radford NR, Younkin SG (February 2009). "Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease". Nat. Genet. 41 (2): 192–8. doi:10.1038/ng.305. PMC 2873177. PMID 19136949.
  4. ↑ Lescai F, Pirazzini C, D'Agostino G, Santoro A, Ghidoni R, Benussi L, Galimberti D, Federica E, Marchegiani F, Cardelli M, Olivieri F, Nacmias B, Sorbi S, Bagnoli S, Tagliavini F, Albani D, Martinelli Boneschi F, Binetti G, Forloni G, Quadri P, Scarpini E, Franceschi C (2010). "Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients". J. Alzheimers Dis. 21 (2): 385–8. doi:10.3233/JAD-2010-091516. PMID 20555150.
  5. ↑ Beecham GW, Naj AC, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA (December 2010). "PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility". Psychiatr. Genet. 20 (6): 321–4. doi:10.1097/YPG.0b013e32833b635d. PMC 2964434. PMID 20523261.
  6. ↑ Wu ZC, Yu JT, Wang ND, Yu NN, Zhang Q, Chen W, Zhang W, Zhu QX, Tan L (October 2010). "Lack of association between PCDH11X genetic variation and late-onset Alzheimer's disease in a Han Chinese population". Brain Res. 1357: 152–6. doi:10.1016/j.brainres.2010.08.008. PMID 20707987.
  7. ↑ Miar A, Alvarez V, Corao AI, Alonso B, Díaz M, Menéndez M, Martínez C, Calatayud M, Morís G, Coto E (2011). "Lack of association between protocadherin 11-X/Y (PCDH11X and PCDH11Y) polymorphisms and late onset Alzheimer's disease". Brain Research. 1383 (1383): 252–6. doi:10.1016/j.brainres.2011.01.054. PMID 21276771.

Further reading



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