PCDHA12 explained
Protocadherin alpha-12 is a protein that in humans is encoded by the PCDHA12 gene.[1] [2]
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.
Further reading
- 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 .
- 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 .
- Martineau J . Monoamines (serotonin and catecholamines) and their derivatives in infantile autism: age-related changes and drug effects . Developmental Medicine & Child Neurology . 34 . 7 . 593–603 . 1992 . 1380929 . 10.1111/j.1469-8749.1992.tb11490.x . vanc. Barthélémy C . Jouve J . 3 . Muh . Jean-Pierre . Lelord . Gilbert . 28807066 .
- Sugino H . 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 . vanc. Hamada S . Yasuda R . 3 . Tuji . Atushi . Matsuda . Yoichi . Fujita . Masami . Yagi . Takeshi .
- 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 . 10.1073/pnas.060027397 . 16203 . 2000PNAS...97.3124W . free .
- Wu Q . Comparative DNA sequence analysis of mouse and human protocadherin gene clusters . Genome Res. . 11 . 3 . 389–404 . 2001 . 11230163 . 10.1101/gr.167301 . 311048 . vanc. Zhang T . Cheng JF . 3 . Kim . Y . Grimwood . J . Schmutz . J . Dickson . M . Noonan . JP . Zhang . MQ .
- Strausberg RL . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
- Schmutz J . The DNA sequence and comparative analysis of human chromosome 5 . Nature . 431 . 7006 . 268–74 . 2004 . 15372022 . 10.1038/nature02919 . vanc. Martin J . Terry A . 3 . Couronne . Olivier . Grimwood . Jane . Lowry . Steve . Gordon . Laurie A. . Scott . Duncan . Xie . Gary . 2004Natur.431..268S . 4373053 . free .
- Otsuki T . Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries . DNA Res. . 12 . 2 . 117–26 . 2007 . 16303743 . 10.1093/dnares/12.2.117 . vanc. Ota T . Nishikawa T . 3 . Hayashi . K . Suzuki . Y . Yamamoto . J . Wakamatsu . A . Kimura . K . Sakamoto . K . free .
Notes and References
- 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 .
- Web site: Entrez Gene: PCDHA12 protocadherin alpha 12.