Protocadherin alpha 1 explained

Protocadherin alpha-1 is a protein that in humans is encoded by the PCDHA1 gene.^{[1] [2]}

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five 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 two 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.^[2]

Further reading

• Nollet F, Kools P, van Roy F . Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members. . J. Mol. Biol. . 299 . 3 . 551–72 . 2000 . 10835267 . 10.1006/jmbi.2000.3777 .
• Yagi T, Takeichi M . Cadherin superfamily genes: functions, genomic organization, and neurologic diversity. . Genes Dev. . 14 . 10 . 1169–80 . 2000 . 10817752 . 10.1101/gad.14.10.1169. 44844497 . free .
• Schmutz J, Martin J, Terry A, etal . The DNA sequence and comparative analysis of human chromosome 5. . Nature . 431 . 7006 . 268–74 . 2004 . 15372022 . 10.1038/nature02919 . 2004Natur.431..268S . 4373053 . free .
• Wu Q, Zhang T, Cheng JF, etal . Comparative DNA sequence analysis of mouse and human protocadherin gene clusters. . Genome Res. . 11 . 3 . 389–404 . 2001 . 11230163 . 311048 . 10.1101/gr.167301 .
• Dias Neto E, Correa RG, Verjovski-Almeida S, etal . Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. . Proc. Natl. Acad. Sci. U.S.A. . 97 . 7 . 3491–6 . 2000 . 10737800 . 16267 . 10.1073/pnas.97.7.3491. 2000PNAS...97.3491D . free .
• Wu Q, Maniatis T . Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes. . Proc. Natl. Acad. Sci. U.S.A. . 97 . 7 . 3124–9 . 2000 . 10716726 . 16203 . 10.1073/pnas.060027397 . 2000PNAS...97.3124W . free .
• Sugino H, Hamada S, Yasuda R, etal . Genomic organization of the family of CNR cadherin genes in mice and humans. . Genomics . 63 . 1 . 75–87 . 2000 . 10662547 . 10.1006/geno.1999.6066 .

Notes and References

1. Wu Q, Maniatis T . A striking organization of a large family of human neural cadherin-like cell adhesion genes . Cell . 97 . 6 . 779–90 . Jul 1999 . 10380929 . 10.1016/S0092-8674(00)80789-8. 6014717 . free .
2. Web site: Entrez Gene: PCDHA1 protocadherin alpha 1.