Protocadherin alpha 1

Protocadherin alpha 1
Identifiers
Symbols	PCDHA1; PCDH-ALPHA1
External IDs	OMIM: 606307 MGI: 2150982 HomoloGene: 75093 GeneCards: PCDHA1 Gene
Gene Ontology Molecular function • calcium ion binding • protein binding Cellular component • extracellular region • plasma membrane • integral to plasma membrane Biological process • cell adhesion • homophilic cell adhesion • nervous system development Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	56147	116731
Ensembl	ENSG00000204970	n/a
UniProt	Q9Y5I3	n/a
RefSeq (mRNA)	NM_018900.2	NM_054072.1
RefSeq (protein)	NP_061723.1	NP_473413.1
Location (UCSC)	Chr 5: 140.17 – 140.39 Mb	n/a
PubMed search	[1]	[2]

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 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.^[2]

References

1. ^ 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. 
2. ^ ^{a b} "Entrez Gene: PCDHA1 protocadherin alpha 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56147. 

Further reading

• 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. 
• Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity.". Genes Dev. 14 (10): 1169–80. PMID 10817752. 
• Schmutz J, Martin J, Terry A, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 5.". Nature 431 (7006): 268–74. doi:10.1038/nature02919. PMID 15372022. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=311048. 
• Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=16267. 
• 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. doi:10.1073/pnas.060027397. PMC 16203. PMID 10716726. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=16203. 
• Sugino H, Hamada S, Yasuda R, et al. (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.