PCDH17

PCDH17
Identifiers
Aliases	PCDH17 , PCDH68, PCH68, protocadherin 17
External IDs	OMIM: 611760; MGI: 2684924; HomoloGene: 8700; GeneCards: PCDH17; OMA:PCDH17 - orthologs
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q21.1 Start 57,631,744 bp [1] End 57,729,311 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14|14 D3 Start 84,681,003 bp [2] End 84,776,442 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell visceral pleura sperm Brodmann area 23 entorhinal cortex lower lobe of lung pars reticulata superior vestibular nucleus germinal epithelium ventral tegmental area Top expressed in lateral hypothalamus ventromedial nucleus dorsomedial hypothalamic nucleus anterior amygdaloid area mammillary body lateral septal nucleus paraventricular nucleus of hypothalamus ventral tegmental area arcuate nucleus supraoptic nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding protein binding Cellular component integral component of membrane plasma membrane membrane integral component of plasma membrane glutamatergic synapse GABA-ergic synapse integral component of postsynaptic membrane integral component of presynaptic membrane Biological process presynaptic active zone assembly adult behavior regulation of synaptic vesicle clustering negative regulation of synaptic transmission homophilic cell adhesion via plasma membrane adhesion molecules cell adhesion cell-cell signaling synapse assembly synaptic membrane adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27253 219228 Ensembl ENSG00000118946 ENSMUSG00000035566 UniProt O14917 n/a RefSeq (mRNA) NM_001040429 NM_014459 NM_001013753 RefSeq (protein) NP_001035519 n/a Location (UCSC) Chr 13: 57.63 – 57.73 Mb Chr 14: 84.68 – 84.78 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protocadherin-17 is a protein that in humans is encoded by the PCDH17 gene. ^{[5] [6]}

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. ^[6] PCDH17 promoter methylation is found to be closely associated with bladder cancer malignancy ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000118946 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000035566 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Nollet F, Kools P, van Roy F (Jul 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.
6. "Entrez Gene: PCDH17 protocadherin 17".
7. Wang XB (Apr 2014). "Protocadherin 17 promoter methylation in tumour tissue from patients with bladder transitional cell carcinoma". J Int Med Res. 42 (2): 292–9. doi: 10.1177/0300060513504364 . PMID   24567353. S2CID   38799502.

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. S2CID   44844497.
• Suzuki ST (2000). "Recent progress in protocadherin research". Exp. Cell Res. 261 (1): 13–8. doi:10.1006/excr.2000.5039. PMID   11082270.
• 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. Bibcode:2000PNAS...97.3124W. doi: 10.1073/pnas.060027397 . PMC   16203 . PMID   10716726.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039. S2CID   21903526.
• Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. Bibcode:2004Natur.428..522D. doi:10.1038/nature02379. PMC   2665288 . PMID   15057823.
• Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC   515316 . PMID   15342556.
• 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.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Szafranski K, Schindler S, Taudien S, et al. (2007). "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns". Genome Biology. 8 (8): R154. doi: 10.1186/gb-2007-8-8-r154 . PMC   2374985 . PMID   17672918.