Protocadherin alpha 1

PCDHA1
Identifiers
Aliases	PCDHA1, PCDH-ALPHA1, Protocadherin alpha 1
External IDs	OMIM: 606307; MGI: 2150982; HomoloGene: 75093; GeneCards: PCDHA1; OMA:PCDHA1 - orthologs
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; ; C1 segment; ; superior frontal gyrus; ; islet of Langerhans; ; primary visual cortex; ; Brodmann area 9; ; anterior cingulate cortex; ; cerebellum; ; cerebellar cortex; ; nucleus accumbens;
	Top expressed in
	enteric nervous system; ; hippocampus proper; ; striatum of neuraxis; ; olfactory bulb; ; hypothalamus; ; cerebellum; ; cerebellar cortex; ; Cortex of frontal lobe; ; primary visual cortex; ; dentate gyrus of hippocampal formation granule cell;
	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 two 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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000204970 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b "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.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000204970 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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] "Entrez Gene: PCDHA1 protocadherin alpha 1".

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Protocadherin alpha 1

References

Further reading

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