PCDHA1

From Wikipedia, the free encyclopedia

Protocadherin alpha 1

Identifiers

PCDHA1; PCDH-ALPHA1

External IDs

OMIM: 606307 MGI: 2150982 HomoloGene: 75093

Gene ontology
Molecular Function:	• calcium ion binding • protein binding
Cellular Component:	• integral to plasma membrane • membrane
Biological Process:	• cell adhesion • homophilic cell adhesion • nervous system development

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_018900 (mRNA)
NP_061723 (protein)

NM_054072 (mRNA)
NP_473413 (protein)

Location

Chr 5: 140.15 - 140.15 Mb

n/a

Pubmed search

[1]

[2]

Protocadherin alpha 1, also known as PCDHA1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: PCDHA1 protocadherin alpha 1.

[edit] 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. PMID 11230163.
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. PMID 10737800.
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. PMID 10716726.
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.
Wu Q, Maniatis T (1999). "A striking organization of a large family of human neural cadherin-like cell adhesion genes.". Cell 97 (6): 779-90. PMID 10380929.