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] Band 5q31.3 Start 140,801,028 bp [1] End 141,012,347 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 B2- B3 Start 37,079,158 bp [2] End 37,320,710 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in islet of Langerhans ganglionic eminence prefrontal cortex stromal cell of endometrium Brodmann area 9 right coronary artery cingulate gyrus gallbladder smooth muscle tissue right lung Top expressed in neural tube hippocampus proper ganglionic eminence cerebellar cortex mesencephalon superior frontal gyrus olfactory bulb hypothalamus spermatid mirror 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 Species Human Mouse Entrez 56145 192163 Ensembl ENSG00000255408 ENSMUSG00000102312 UniProt Q9Y5H8 Q91Y16 RefSeq (mRNA) NM_031497 NM_018906 NM_138662 RefSeq (protein) NP_061729 NP_113685 NP_619603 Location (UCSC) Chr 5: 140.8 – 141.01 Mb Chr 18: 37.08 – 37.32 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000255408 - Ensembl, May 2017
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.
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: PCDHA3 protocadherin alpha 3".

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.
• 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.
• 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.