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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) Band 5q31.3 Start 140,786,136 bp End 141,012,347 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18|18 B2- B3 Start 37,063,237 bp End 37,320,714 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 56147 116731 Ensembl ENSG00000204970 ENSMUSG00000103442 UniProt Q9Y5I3 n/a RefSeq (mRNA) NM_031411 NM_018900 NM_031410 NM_054072 RefSeq (protein) NP_061723 NP_113598 NP_113599 n/a Location (UCSC) Chr 5: 140.79 – 141.01 Mb Chr 18: 37.06 – 37.32 Mb PubMed search
Wikidata
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Protocadherin alpha-1 is a protein that in humans is encoded by the PCDHA1 gene.

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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000204970 – Ensembl, May 2017
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.
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.
6. ^ "Entrez Gene: PCDHA1 protocadherin alpha 1".

Further reading

• 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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