PCDHA3

PCDHA3
Identifiers
Aliases	PCDHA3, PCDH-ALPHA3, protocadherin alpha 3
External IDs	OMIM: 606309 MGI: 2447313 HomoloGene: 129613 GeneCards: PCDHA3
Gene location (Human)
Chr.	Chromosome 5 (human)[1]
End	141,012,347 bp[1]
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)[2]
End	37,187,657 bp[2]
RNA expression pattern
	; ;
	More reference expression data
Gene ontology
Molecular function	• calcium ion binding;
Cellular component	• integral component of membrane; • cell 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
	56145
	192163
	ENSG00000255408
	ENSMUSG00000102312
	Q9Y5H8
	Q91Y16
	NM_031497; NM_018906
	NM_138662
	NP_061729; NP_113685
	NP_619603
	Wikidata
View/Edit Human	View/Edit Mouse

Protocadherin alpha-3 is a protein that in humans is encoded by the PCDHA3 gene.[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

GRCh38: Ensembl release 89: ENSG00000255408 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000102312 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"Entrez Gene: PCDHA3 protocadherin alpha 3".

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.
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 (inactive 2021-01-14). PMID 10817752.CS1 maint: DOI inactive as of January 2021 (link)
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.
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.
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.
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.
Sugino H, Hamada S, Yasuda R, et al. (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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000255408 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000102312 - 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.

[pmid10380929-5] 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.

[entrez-6] "Entrez Gene: PCDHA3 protocadherin alpha 3".

PCDHA3

References

Further reading