PCDHA5

Protein-coding gene in the species Homo sapiens
PCDHA5
Identifiers
AliasesPCDHA5, CNR6, CNRN6, CNRS6, CRNR6, PCDH-ALPHA5, protocadherin alpha 5
External IDsOMIM: 606311; MGI: 1298371; HomoloGene: 49565; GeneCards: PCDHA5; OMA:PCDHA5 - orthologs
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[1]
Chromosome 18 (mouse)
Genomic location for PCDHA5
Genomic location for PCDHA5
Band18|18 B2- B3Start37,093,493 bp[1]
End37,320,710 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • prefrontal cortex

  • islet of Langerhans

  • superior frontal gyrus

  • cerebellum

  • cerebellar cortex

  • cerebellar hemisphere

  • Brodmann area 9

  • ganglionic eminence

  • temporal lobe

  • amygdala
Top expressed in
  • embryo

  • granular layer

  • granular layer of dentate gyrus

  • Purkinje cell

  • hippocampus proper

  • Region I of hippocampus proper

  • striatum of neuraxis

  • Cortex of frontal lobe

  • superior frontal gyrus

  • primary visual cortex
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • calcium ion binding
Cellular component
  • integral component of membrane
  • plasma membrane
  • integral component of plasma membrane
  • membrane
Biological process
  • cell adhesion
  • nervous system development
  • homophilic cell adhesion via plasma membrane adhesion molecules
  • cell-cell signaling
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

56143

12941

Ensembl

n/a

ENSMUSG00000103092

UniProt

Q9Y5H7

Q91Y15

RefSeq (mRNA)

NM_031501
NM_018908

NM_009959

RefSeq (protein)

NP_061731
NP_113689

NP_034089

Location (UCSC)n/aChr 18: 37.09 – 37.32 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin alpha-5 is a protein that in humans is encoded by the PCDHA5 gene.[4][5][6]

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome 5 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.[6]

References

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000103092 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ 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. S2CID 6014717.
  5. ^ 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.
  6. ^ a b "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. S2CID 44844497.
  • 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. Bibcode:2000PNAS...97.3124W. 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2004Natur.431..268S. doi:10.1038/nature02919. PMID 15372022. S2CID 4373053.
  • 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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  • 1wuz: Structure of EC1 domain of CNR
    1wuz: Structure of EC1 domain of CNR


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