PCDHA5
| Protocadherin alpha 5 | |||||||||||||
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PDB rendering based on 1wuz. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | PCDHA5 ; CNR6; CNRN6; CNRS6; CRNR6; PCDH-ALPHA5 | ||||||||||||
| External IDs | OMIM: 606311 MGI: 1298371 HomoloGene: 49565 GeneCards: PCDHA5 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 56143 | 12941 | |||||||||||
| Ensembl | ENSG00000204965 | ENSMUSG00000103092 | |||||||||||
| UniProt | Q9Y5H7 | Q91Y15 | |||||||||||
| RefSeq (mRNA) | NM_018908 | NM_009959 | |||||||||||
| RefSeq (protein) | NP_061731 | NP_034089 | |||||||||||
| Location (UCSC) |
Chr 5: 140.82 – 141.01 Mb |
Chr 18: 36.96 – 37.19 Mb | |||||||||||
| PubMed search | |||||||||||||
Protocadherin alpha-5 is a protein that in humans is encoded by the PCDHA5 gene.[1][2][3]
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.[3]
References
- ↑ 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.
- ↑ 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.
- 1 2 "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. 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. 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. doi:10.1038/nature02919. PMID 15372022.
- 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.
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