PCDHGC3
| Protocadherin gamma subfamily C, 3 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | PCDHGC3 ; PC43; PCDH-GAMMA-C3; PCDH2 | ||||||||||||
| External IDs | OMIM: 603627 MGI: 1935201 HomoloGene: 31099 GeneCards: PCDHGC3 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 5098 | 93706 | |||||||||||
| Ensembl | ENSG00000240184 | ENSMUSG00000023036 | |||||||||||
| UniProt | Q9UN70 | Q5DTQ9 | |||||||||||
| RefSeq (mRNA) | NM_002588 | NM_033581 | |||||||||||
| RefSeq (protein) | NP_002579 | NP_291059 | |||||||||||
| Location (UCSC) | Chr 5: 140.8 – 140.89 Mb | Chr 18: 37.67 – 37.84 Mb | |||||||||||
| PubMed search | |||||||||||||
Protocadherin gamma-C3 is a protein that in humans is encoded by the PCDHGC3 gene.[1][2][3]
This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. 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.[3]
References
- ↑ Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (Dec 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous". Science 278 (5341): 1315–8. doi:10.1126/science.278.5341.1315. PMID 9360932.
- ↑ Sano K, Tanihara H, Heimark RL, Obata S, Davidson M, St John T, Taketani S, Suzuki S (Jul 1993). "Protocadherins: a large family of cadherin-related molecules in central nervous system". EMBO J 12 (6): 2249–56. PMC 413453. PMID 8508762.
- ↑ 3.0 3.1 "Entrez Gene: PCDHGC3 protocadherin gamma subfamily C, 3".
Further reading
- Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity". Genes Dev. 14 (10): 1169–80. PMID 10817752.
- 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.
- Obata S; Sago H; Mori N et al. (1997). "Protocadherin Pcdh2 shows properties similar to, but distinct from, those of classical cadherins". J. Cell. Sci. 108 (12): 3765–73. PMID 8719883.
- Obata S; Sago H; Mori N et al. (1999). "A common protocadherin tail: multiple protocadherins share the same sequence in their cytoplasmic domains and are expressed in different regions of brain". Cell Adhes. Commun. 6 (4): 323–33. doi:10.3109/15419069809010791. PMID 9865466.
- Wu Q, Maniatis T (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.
- 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.
- 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.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Gerhard DS; Wagner L; Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Reiss K; Maretzky T; Haas IG et al. (2006). "Regulated ADAM10-dependent ectodomain shedding of gamma-protocadherin C3 modulates cell-cell adhesion". J. Biol. Chem. 281 (31): 21735–44. doi:10.1074/jbc.M602663200. PMID 16751190.