PCDH17

Protein-coding gene in the species Homo sapiens
PCDH17
Identifiers
AliasesPCDH17, PCDH68, PCH68, protocadherin 17
External IDsOMIM: 611760; MGI: 2684924; HomoloGene: 8700; GeneCards: PCDH17; OMA:PCDH17 - orthologs
Gene location (Human)
Chromosome 13 (human)
Chr.Chromosome 13 (human)[1]
Chromosome 13 (human)
Genomic location for PCDH17
Genomic location for PCDH17
Band13q21.1Start57,631,744 bp[1]
End57,729,311 bp[1]
Gene location (Mouse)
Chromosome 14 (mouse)
Chr.Chromosome 14 (mouse)[2]
Chromosome 14 (mouse)
Genomic location for PCDH17
Genomic location for PCDH17
Band14|14 D3Start84,681,003 bp[2]
End84,776,442 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 14: 84.68 – 84.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000118946 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.


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