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PCDHA5

From Wikipedia, the free encyclopedia
PCDHA5
Identifiers
AliasesPCDHA5, CNR6, CNRN6, CNRS6, CRNR6, PCDH-ALPHA5, protocadherin alpha 5
External IDsOMIM: 606311; MGI: 1298371; HomoloGene: 49565; GeneCards: PCDHA5; OMA:PCDHA5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031501
NM_018908

NM_009959

RefSeq (protein)

NP_061731
NP_113689

NP_034089

Location (UCSC)n/aChr 18: 37.09 – 37.32 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin alpha-5 is a protein that in humans is encoded by the PCDHA5 gene.[4][5][6]

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome 5 that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters.

The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain.

These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined.[6]

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000103092Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Wu Q, Maniatis T (Jul 1999). "A striking organization of a large family of human neural cadherin-like cell adhesion genes". Cell. 97 (6): 779–90. doi:10.1016/S0092-8674(00)80789-8. PMID 10380929. S2CID 6014717.
  5. ^ Sugino H, Hamada S, Yasuda R, Tuji A, Matsuda Y, Fujita M, Yagi T (Apr 2000). "Genomic organization of the family of CNR cadherin genes in mice and humans". Genomics. 63 (1): 75–87. doi:10.1006/geno.1999.6066. PMID 10662547.
  6. ^ a b "Entrez Gene: PCDHA5 protocadherin alpha 5".

Further reading

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