- PCDH8
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Protocadherin 8 Identifiers Symbols PCDH8; ARCADLIN; PAPC External IDs OMIM: 603580 MGI: 1306800 HomoloGene: 1943 GeneCards: PCDH8 Gene Gene Ontology Molecular function • calcium ion binding Cellular component • plasma membrane
• integral to plasma membrane
• cell junction
• dendrite
• presynaptic membrane
• cell projection
• synapse
• postsynaptic membraneBiological process • somitogenesis
• cell adhesion
• homophilic cell adhesion
• cell-cell signaling
• morphogenesis of embryonic epitheliumSources: Amigo / QuickGO RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 5100 18530 Ensembl ENSG00000136099 ENSMUSG00000036422 UniProt O95206 n/a RefSeq (mRNA) NM_002590.3 NM_001042726 RefSeq (protein) NP_002581.2 NP_001036191 Location (UCSC) Chr 13:
53.42 – 53.42 MbChr 14:
80.17 – 80.17 MbPubMed search [1] [2] Protocadherin-8 is a protein that in humans is encoded by the PCDH8 gene.[1][2][3]
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.[3]
References
- ^ Strehl S, Glatt K, Liu QM, Glatt H, Lalande M (Dec 1998). "Characterization of two novel protocadherins (PCDH8 and PCDH9) localized on human chromosome 13 and mouse chromosome 14". Genomics 53 (1): 81–9. doi:10.1006/geno.1998.5467. PMID 9787079.
- ^ Strehl S, LaSalle JM, Lalande M (Oct 1997). "High-resolution analysis of DNA replication domain organization across an R/G-band boundary". Mol Cell Biol 17 (10): 6157–66. PMC 232466. PMID 9315676. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=232466.
- ^ a b "Entrez Gene: PCDH8 protocadherin 8". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5100.
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:10.1006/jmbi.2000.3777. PMID 10835267.
- 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. doi:10.1016/S0092-8674(00)80789-8. 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. doi:10.1074/jbc.274.27.19473. 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:10.1073/pnas.060027397. PMC 16203. PMID 10716726. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=16203.
- 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.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Bray NJ, Kirov G, Owen RJ, et al. (2003). "Screening the human protocadherin 8 (PCDH8) gene in schizophrenia". Genes, Brain and Behavior 1 (3): 187–91. doi:10.1034/j.1601-183X.2002.10307.x. 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:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- 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:10.1016/j.cell.2006.03.032. PMID 16713569.
Categories:- Human proteins
- Chromosome 13 gene stubs
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