PCDH15: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Protocadherin-15''' is a [[protein]] that in humans is encoded by the ''PCDH15'' [[gene]].<ref name="pmid11398101">{{cite journal |vauthors=Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER | title = Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F | journal = Am J Hum Genet | volume = 69 | issue = 1 | pages = 25–34 |date=Jun 2001 | pmid = 11398101 | pmc = 1226045 | doi = 10.1086/321277 }}</ref><ref name="pmid14570705">{{cite journal |vauthors=Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER | title = PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 | journal = Hum Mol Genet | volume = 12 | issue = 24 | pages = 3215–23 |date=Dec 2003 | pmid = 14570705 | pmc = | doi = 10.1093/hmg/ddg358 }}</ref><ref name="entrez" />
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| update_protein_box = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Protocadherin 15
| HGNCid = 14674
| Symbol = PCDH15
| AltSymbols =; DFNB23; DKFZp667A1711; USH1F
| OMIM = 605514
| ECnumber = 
| Homologene = 23401
| MGIid = 1891428
| Function = {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005929 |text = cilium}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0002009 |text = morphogenesis of an epithelium}} {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007156 |text = homophilic cell adhesion}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0007626 |text = locomotory behavior}} {{GNF_GO|id=GO:0035058 |text = sensory cilium biogenesis}} {{GNF_GO|id=GO:0042491 |text = auditory receptor cell differentiation}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 65217
    | Hs_Ensembl = ENSG00000150275
    | Hs_RefseqProtein = NP_149045
    | Hs_RefseqmRNA = NM_033056
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 10
    | Hs_GenLoc_start = 55250866
    | Hs_GenLoc_end = 56231057
    | Hs_Uniprot = Q96QU1
    | Mm_EntrezGene = 11994
    | Mm_Ensembl = ENSMUSG00000052613
    | Mm_RefseqmRNA = NM_023115
    | Mm_RefseqProtein = NP_075604
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 10
    | Mm_GenLoc_start = 73342356
    | Mm_GenLoc_end = 74089930
    | Mm_Uniprot = Q0ZM16
  }}
}}
'''Protocadherin 15''', also known as '''PCDH15''', is a human [[gene]].<ref name="entrez" />


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene is a member of the [[cadherin]] superfamily. Family members encode integral membrane proteins that mediate [[calcium]]-dependent cell-cell [[cell adhesion|adhesion]]. The protein product of this gene consists of a [[signal peptide]], 11 extracellular calcium-binding domains, a [[transmembrane domain]] and a unique [[cadherin cytoplasmic region|cytoplasmic domain]]. It plays an essential role in maintenance of normal [[retina]]l and [[cochlea]]r function.<ref name="entrez"/> It is thought to interact with [[CDH23]] to form [[tip-link]] filaments.<ref>{{cite journal |last1=Kazmierczak |first1=Piotr |last2=Sakaguchi |first2=Hirofumi |last3=Tokita |first3=Joshua |last4=Wilson-Kubalek |first4=Elizabeth M. |last5=Milligan |first5=Ronald A. |last6=Müller |first6=Ulrich |last7=Kachar |first7=Bechara |title=Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells |journal=Nature |volume=449 |issue=7158 |pages=87–91 |year=2007 |pmid=17805295 |doi=10.1038/nature06091}}</ref>
{{PBB_Summary
 
| section_title =
== Clinical significance ==
| summary_text = This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. The protein product of this gene consists of a signal peptide, 11 extracellular calcium-binding domains, a transmembrane domain and a unique cytoplasmic domain. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene have been associated with hearing loss, which is consistent with its location at the Usher syndrome type 1F (USH1F) critical region on chromosome 10.<ref name="entrez">{{cite web | title = Entrez Gene: PCDH15 protocadherin 15| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=65217| accessdate = }}</ref>
 
}}
Mutations in this gene have been associated with hearing loss, which is consistent with its location at the [[Usher syndrome]] type 1F (USH1F) critical region on chromosome 10.<ref name="entrez">{{cite web | title = Entrez Gene: PCDH15 protocadherin 15| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=65217| accessdate = }}</ref> Variation within it has also been found to be associated with normal differences in human facial appearance.<ref>http://www.pnas.org/content/115/4/E676.short</ref>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal   |vauthors=Alagramam KN, Murcia CL, Kwon HY, etal |title=The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. |journal=Nat. Genet. |volume=27 |issue= 1 |pages= 99–102 |year= 2001 |pmid= 11138007 |doi= 10.1038/83837 }}
| citations =
*{{cite journal   |vauthors=Alagramam KN, Yuan H, Kuehn MH, etal |title=Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. |journal=Hum. Mol. Genet. |volume=10 |issue= 16 |pages= 1709–18 |year= 2001 |pmid= 11487575 |doi=10.1093/hmg/10.16.1709 }}
*{{cite journal | author=Alagramam KN, Murcia CL, Kwon HY, ''et al.'' |title=The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. |journal=Nat. Genet. |volume=27 |issue= 1 |pages= 99-102 |year= 2001 |pmid= 11138007 |doi= 10.1038/83837 }}
*{{cite journal   |vauthors=Ben-Yosef T, Ness SL, Madeo AC, etal |title=A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. |journal=N. Engl. J. Med. |volume=348 |issue= 17 |pages= 1664–70 |year= 2003 |pmid= 12711741 |doi= 10.1056/NEJMoa021502 }}
*{{cite journal | author=Ahmed ZM, Riazuddin S, Bernstein SL, ''et al.'' |title=Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. |journal=Am. J. Hum. Genet. |volume=69 |issue= 1 |pages= 25-34 |year= 2001 |pmid= 11398101 |doi=  }}
*{{cite journal   |vauthors=Zheng QY, Yan D, Ouyang XM, etal |title=Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. |journal=Hum. Mol. Genet. |volume=14 |issue= 1 |pages= 103–11 |year= 2005 |pmid= 15537665 |doi= 10.1093/hmg/ddi010 | pmc=2858222 }}
*{{cite journal  | author=Alagramam KN, Yuan H, Kuehn MH, ''et al.'' |title=Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. |journal=Hum. Mol. Genet. |volume=10 |issue= 16 |pages= 1709-18 |year= 2001 |pmid= 11487575 |doi=  }}
*{{cite journal   |vauthors=Ouyang XM, Yan D, Du LL, etal |title=Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. |journal=Hum. Genet. |volume=116 |issue= 4 |pages= 292–9 |year= 2005 |pmid= 15660226 |doi= 10.1007/s00439-004-1227-2 }}
*{{cite journal | author=Ben-Yosef T, Ness SL, Madeo AC, ''et al.'' |title=A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. |journal=N. Engl. J. Med. |volume=348 |issue= 17 |pages= 1664-70 |year= 2003 |pmid= 12711741 |doi= 10.1056/NEJMoa021502 }}
*{{cite journal   |vauthors=Roux AF, Faugère V, Le Guédard S, etal |title=Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. |journal=J. Med. Genet. |volume=43 |issue= 9 |pages= 763–8 |year= 2007 |pmid= 16679490 |doi= 10.1136/jmg.2006.041954 | pmc=2564578 }}
*{{cite journal | author=Ahmed ZM, Riazuddin S, Ahmad J, ''et al.'' |title=PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. |journal=Hum. Mol. Genet. |volume=12 |issue= 24 |pages= 3215-23 |year= 2004 |pmid= 14570705 |doi= 10.1093/hmg/ddg358 }}
*{{cite journal   |vauthors=Zheng QY, Yu H, Washington JL, etal |title=A new spontaneous mutation in the mouse protocadherin 15 gene. |journal=Hear. Res. |volume=219 |issue= 1-2 |pages= 110–20 |year= 2007 |pmid= 16887306 |doi= 10.1016/j.heares.2006.06.010 | pmc=2855306 }}
*{{cite journal  | author=Zheng QY, Yan D, Ouyang XM, ''et al.'' |title=Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. |journal=Hum. Mol. Genet. |volume=14 |issue= 1 |pages= 103-11 |year= 2005 |pmid= 15537665 |doi= 10.1093/hmg/ddi010 }}
*{{cite journal   |vauthors=Le Guédard S, Faugère V, Malcolm S, etal |title=Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. |journal=Mol. Vis. |volume=13 |issue=  |pages= 102–7 |year= 2007 |pmid= 17277737 |doi=  | pmc=2533038  }}
*{{cite journal | author=Ouyang XM, Yan D, Du LL, ''et al.'' |title=Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. |journal=Hum. Genet. |volume=116 |issue= 4 |pages= 292-9 |year= 2005 |pmid= 15660226 |doi= 10.1007/s00439-004-1227-2 }}
*{{cite journal | author=Roux AF, Faugère V, Le Guédard S, ''et al.'' |title=Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. |journal=J. Med. Genet. |volume=43 |issue= 9 |pages= 763-8 |year= 2007 |pmid= 16679490 |doi= 10.1136/jmg.2006.041954 }}
*{{cite journal | author=Zheng QY, Yu H, Washington JL, ''et al.'' |title=A new spontaneous mutation in the mouse protocadherin 15 gene. |journal=Hear. Res. |volume=219 |issue= 1-2 |pages= 110-20 |year= 2007 |pmid= 16887306 |doi= 10.1016/j.heares.2006.06.010 }}
*{{cite journal | author=Le Guédard S, Faugère V, Malcolm S, ''et al.'' |title=Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. |journal=Mol. Vis. |volume=13 |issue=  |pages= 102-7 |year= 2007 |pmid= 17277737 |doi=  }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=usher1  GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I]
 
 
{{gene-10-stub}}

Latest revision as of 10:17, 13 June 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-15 is a protein that in humans is encoded by the PCDH15 gene.[1][2][3]

Function

This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. The protein product of this gene consists of a signal peptide, 11 extracellular calcium-binding domains, a transmembrane domain and a unique cytoplasmic domain. It plays an essential role in maintenance of normal retinal and cochlear function.[3] It is thought to interact with CDH23 to form tip-link filaments.[4]

Clinical significance

Mutations in this gene have been associated with hearing loss, which is consistent with its location at the Usher syndrome type 1F (USH1F) critical region on chromosome 10.[3] Variation within it has also been found to be associated with normal differences in human facial appearance.[5]

References

  1. ↑ Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER (Jun 2001). "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F". Am J Hum Genet. 69 (1): 25–34. doi:10.1086/321277. PMC 1226045. PMID 11398101.
  2. ↑ Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER (Dec 2003). "PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23". Hum Mol Genet. 12 (24): 3215–23. doi:10.1093/hmg/ddg358. PMID 14570705.
  3. ↑ 3.0 3.1 3.2 "Entrez Gene: PCDH15 protocadherin 15".
  4. ↑ Kazmierczak, Piotr; Sakaguchi, Hirofumi; Tokita, Joshua; Wilson-Kubalek, Elizabeth M.; Milligan, Ronald A.; Müller, Ulrich; Kachar, Bechara (2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells". Nature. 449 (7158): 87–91. doi:10.1038/nature06091. PMID 17805295.
  5. ↑ http://www.pnas.org/content/115/4/E676.short

Further reading

External links


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