PCDH8
From Wikipedia, the free encyclopedia
Protocadherin 8
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Identifiers | ||||||||||||||
Symbol(s) | PCDH8; ARCADLIN; PAPC | |||||||||||||
External IDs | OMIM: 603580 MGI: 1306800 HomoloGene: 1943 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 5100 | 18530 | ||||||||||||
Ensembl | ENSG00000136099 | ENSMUSG00000036422 | ||||||||||||
Uniprot | O95206 | n/a | ||||||||||||
Refseq | NM_002590 (mRNA) NP_002581 (protein) |
NM_001042726 (mRNA) NP_001036191 (protein) |
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Location | Chr 13: 52.32 - 52.32 Mb | Chr 14: 78.5 - 78.51 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Protocadherin 8, also known as PCDH8, is a human gene.[1]
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails.[1]
[edit] References
[edit] Further reading
- Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity.". Genes Dev. 14 (10): 1169-80. 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: . PMID 10835267.
- Strehl S, LaSalle JM, Lalande M (1997). "High-resolution analysis of DNA replication domain organization across an R/G-band boundary.". Mol. Cell. Biol. 17 (10): 6157-66. PMID 9315676.
- Strehl S, Glatt K, Liu QM, et al. (1998). "Characterization of two novel protocadherins (PCDH8 and PCDH9) localized on human chromosome 13 and mouse chromosome 14.". Genomics 53 (1): 81-9. doi: . PMID 9787079.
- 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.
- Yamagata K, Andreasson KI, Sugiura H, et al. (1999). "Arcadlin is a neural activity-regulated cadherin involved in long term potentiation.". J. Biol. Chem. 274 (27): 19473-1979. PMID 10383464.
- 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: . 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: . 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: . PMID 12477932.
- Bray NJ, Kirov G, Owen RJ, et al. (2003). "Screening the human protocadherin 8 (PCDH8) gene in schizophrenia.". Genes Brain Behav. 1 (3): 187-91. PMID 12884975.
- 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: . PMID 15489334.
- Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.". Cell 125 (4): 801-14. doi: . PMID 16713569.