PCDHGA11

PCDHGA11
Identifiers
Aliases	PCDHGA11 , PCDH-GAMMA-A11, protocadherin gamma subfamily A, 11
External IDs	OMIM: 606298 MGI: 1935228 HomoloGene: 110934 GeneCards: PCDHGA11
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.3 Start 141,421,047 bp [1] End 141,512,975 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 B3 Start 37,888,784 bp [2] End 37,974,926 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium ganglionic eminence Achilles tendon sural nerve left ventricle right coronary artery ascending aorta prefrontal cortex nucleus accumbens gastrocnemius muscle Top expressed in ganglionic eminence olfactory bulb hippocampus proper mesencephalon rhombencephalon neural tube cerebellum cerebellar cortex superior frontal gyrus hypothalamus More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding Cellular component integral component of membrane plasma membrane membrane integral component of plasma membrane Biological process homophilic cell adhesion via plasma membrane adhesion molecules cell adhesion cell-cell signaling nervous system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56105 93723 Ensembl ENSG00000253873 ENSMUSG00000102742 UniProt Q9Y5H2 Q91XY8 RefSeq (mRNA) NM_032092 NM_018914 NM_032091 NM_033594 RefSeq (protein) NP_061737 NP_114480 NP_114481 NP_291072 Location (UCSC) Chr 5: 141.42 – 141.51 Mb Chr 18: 37.89 – 37.97 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protocadherin gamma-A11 is a protein that in humans is encoded by the PCDHGA11 gene. ^{[5] [6]}

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome 5. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression.

The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region.

These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000253873 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000102742 - 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: PCDHGA11 protocadherin gamma subfamily A, 11".

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.
• Waha A, Güntner S, Huang TH, et al. (2005). "Epigenetic silencing of the protocadherin family member PCDH-gamma-A11 in astrocytomas". Neoplasia. 7 (3): 193–9. doi:10.1593/neo.04490. PMC   1501138 . PMID   15799819.
• 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. doi: 10.1073/pnas.060027397 . PMC   16203 . PMID   10716726.
• Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID   7566098.