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 (Human) Chr. Chromosome 5 (human) [1] Band 5q31.3 Start 140,821,604 bp [1] End 141,012,347 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 B2-B3 Start 36,960,440 bp [2] End 37,187,657 bp [2]
RNA expression pattern 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
Species	Human	Mouse
Entrez	56143	12941
Ensembl	ENSG00000204965	ENSMUSG00000103092
UniProt	Q9Y5H7	Q91Y15
RefSeq (mRNA)	NM_031501 NM_018908	NM_009959
RefSeq (protein)	NP_061731 NP_113689	NP_034089
Location (UCSC)	Chr 5: 140.82 – 141.01 Mb	Chr 18: 36.96 – 37.19 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Protocadherin alpha-5 is a protein that in humans is encoded by the PCDHA5 gene. ^{[5] [6] [7]}

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. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000204965 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000103092 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: PCDHA5 protocadherin alpha 5".

Further reading

• 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 (inactive 31 May 2021). PMID   10817752.
• 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. 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.