Protocadherin alpha 1

PCDHA1
Identifiers
Aliases	PCDHA1, PCDH-ALPHA1, Protocadherin alpha 1
External IDs	OMIM: 606307 MGI: 2150982 HomoloGene: 75093 GeneCards: PCDHA1
Gene location (Human)
Chr.	Chromosome 5 (human)
End	141,012,347 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	37,320,714 bp
RNA expression pattern
	Top expressed in
	prefrontal cortex; ; superior frontal gyrus; ; islet of Langerhans; ; Brodmann area 9; ; cerebellum; ; cerebellar cortex; ; nucleus accumbens; ; cerebellar hemisphere; ; substantia nigra; ; hypothalamus;
	Top expressed in
	enteric nervous system; ; hippocampus proper; ; olfactory bulb; ; hypothalamus; ; cerebellum; ; cerebellar cortex; ; superior frontal gyrus; ; neural tube; ; testicle; ; mesencephalon;
	More reference expression data
	n/a
Gene ontology
Molecular function	calcium ion binding;
Cellular component	integral component of membrane; extracellular region; integral component of plasma membrane; membrane; plasma membrane; endoplasmic reticulum;
Biological process	cell adhesion; nervous system development; homophilic cell adhesion via plasma membrane adhesion molecules; cell-cell signaling;
	Sources:Amigo / QuickGO
Orthologs
	56147
	116731
	ENSG00000204970
	ENSMUSG00000103442
	Q9Y5I3
	n/a
	NM_031411; NM_018900; NM_031410
	NM_054072
	NP_061723; NP_113598; NP_113599
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Protocadherin alpha-1 is a protein that in humans is encoded by the PCDHA1 gene.^[5]^[6]

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five 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 2 3 GRCh38: Ensembl release 89: ENSG00000204970 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000103442 - 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.
1 2 "Entrez Gene: PCDHA1 protocadherin alpha 1".

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. PMID 10817752. S2CID 44844497.
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.
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.
Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
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] 1 2 3 GRCh38: Ensembl release 89: ENSG00000204970 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000103442 - 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] 1 2 "Entrez Gene: PCDHA1 protocadherin alpha 1".

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References

Further reading