PCDHA5

PCDHA5
Identifiers
Aliases	PCDHA5, CNR6, CNRN6, CNRS6, CRNR6, PCDH-ALPHA5, protocadherin alpha 5
External IDs	OMIM: 606311 MGI: 1298371 HomoloGene: 49565 GeneCards: PCDHA5
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	37,320,710 bp
RNA expression pattern
	Top expressed in
	prefrontal cortex; ; islet of Langerhans; ; superior frontal gyrus; ; cerebellum; ; cerebellar cortex; ; cerebellar hemisphere; ; Brodmann area 9; ; ganglionic eminence; ; temporal lobe; ; amygdala;
	Top expressed in
	granular layer; ; Purkinje cell; ; hippocampus proper; ; Region I of hippocampus proper; ; superior frontal gyrus; ; neural tube; ; ganglionic eminence; ; hypothalamus; ; mesencephalon; ; white adipose tissue;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding;
Cellular component	integral component of membrane; plasma membrane; integral component of plasma membrane; membrane;
Biological process	cell adhesion; nervous system development; homophilic cell adhesion via plasma membrane adhesion molecules; cell-cell signaling;
	Sources:Amigo / QuickGO
Orthologs
	56143
	12941
	n/a
	ENSMUSG00000103092
	Q9Y5H7
	Q91Y15
	NM_031501; NM_018908
	NM_009959
	NP_061731; NP_113689
	NP_034089
	Wikidata
View/Edit Human	View/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

1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000103092 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 "Entrez Gene: PCDHA5 protocadherin alpha 5".

Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity". Genes Dev. 14 (10): 1169–80. doi:10.1101/gad.14.10.1169. PMID 10817752. S2CID 44844497.
Nollet F, Kools P, van Roy F (2000). "Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members". J. Mol. Biol. 299 (3): 551–72. doi:10.1006/jmbi.2000.3777. PMID 10835267.
Wu Q, Maniatis T (2000). "Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3124–9. Bibcode:2000PNAS...97.3124W. doi:10.1073/pnas.060027397. PMC 16203. PMID 10716726.
Wu Q, Zhang T, Cheng JF, et al. (2001). "Comparative DNA sequence analysis of mouse and human protocadherin gene clusters". Genome Res. 11 (3): 389–404. doi:10.1101/gr.167301. PMC 311048. PMID 11230163.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Schmutz J, Martin J, Terry A, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 5". Nature. 431 (7006): 268–74. Bibcode:2004Natur.431..268S. doi:10.1038/nature02919. PMID 15372022. S2CID 4373053.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.

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[refGRCm38Ensembl-1] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000103092 - Ensembl, 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.

[pmid10380929-4] 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.

[pmid10662547-5] 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.

[entrez-6] 1 2 "Entrez Gene: PCDHA5 protocadherin alpha 5".

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References

Further reading