PCDHB14

PCDHB14
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WYJ
Identifiers
Aliases	PCDHB14 , PCDH-BETA14, protocadherin beta 14
External IDs	OMIM: 606340 MGI: 2136758 HomoloGene: 134303 GeneCards: PCDHB14
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.3 Start 141,223,343 bp [1] End 141,227,759 bp [1]
RNA expression pattern Bgee Top expressed in prosencephalon neocortex cerebral cortex thoracic aorta anterior pituitary endometrium left coronary artery More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding GO:0001948 protein binding Cellular component plasma membrane membrane integral component of membrane integral component of plasma membrane Biological process chemical synaptic transmission homophilic cell adhesion via plasma membrane adhesion molecules synapse assembly calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules cell adhesion Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	56122	93891
Ensembl	ENSG00000120327	ENSMUSG00000046191
UniProt	Q9Y5E9	Q91XZ9
RefSeq (mRNA)	NM_018934	NM_053145
RefSeq (protein)	NP_061757	NP_444375
Location (UCSC)	Chr 5: 141.22 – 141.23 Mb	n/a
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

Protocadherin beta-14 is a protein that in humans is encoded by the PCDHB14 gene. ^{[4] [5]}

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome 5. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters.

The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections.

Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000120327 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. 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.
5. "Entrez Gene: PCDHB14 protocadherin beta 14".

Further reading

• 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.
• 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.
• Frank M, Kemler R (2003). "Protocadherins". Curr. Opin. Cell Biol. 14 (5): 557–62. doi:10.1016/S0955-0674(02)00365-4. PMID   12231349.
• Matsuyoshi N, Tanaka T, Toda K, Imamura S (1997). "Identification of novel cadherins expressed in human melanoma cells". J. Invest. Dermatol. 108 (6): 908–13. doi:10.1111/1523-1747.ep12292703. PMID   9182820.
• 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.
• Vanhalst K, Kools P, Vanden Eynde E, van Roy F (2001). "The human and murine protocadherin-beta one-exon gene families show high evolutionary conservation, despite the difference in gene number". FEBS Lett. 495 (1–2): 120–5. doi:10.1016/S0014-5793(01)02372-9. PMID   11322959. S2CID   36671435.
• 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.