PCDH1

PCDH1
Identifiers
Aliases	PCDH1 , PC42, PCDH42, protocadherin 1
External IDs	OMIM: 603626 MGI: 104692 HomoloGene: 12613 GeneCards: PCDH1
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.3 Start 141,853,090 bp [1] End 141,879,246 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18 B3|18 20.08 cM Start 38,318,967 bp [2] End 38,345,106 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lung minor salivary gland upper lobe of left lung body of tongue nipple body of stomach skin of abdomen vena cava prefrontal cortex rectum Top expressed in superior frontal gyrus esophagus lip yolk sac intestinal villus left colon duodenum lung nasal meatus Epithelium of stomach 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 cell-cell junction nucleus nucleolus cell junction intracellular membrane-bounded organelle Biological process cell-cell signaling cell adhesion nervous system development homophilic cell adhesion via plasma membrane adhesion molecules Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5097 75599 Ensembl ENSG00000156453 ENSMUSG00000051375 UniProt Q08174 n/a RefSeq (mRNA) NM_001278613 NM_001278615 NM_002587 NM_032420 NM_029357 RefSeq (protein) NP_001265542 NP_001265544 NP_002578 NP_115796 n/a Location (UCSC) Chr 5: 141.85 – 141.88 Mb Chr 18: 38.32 – 38.35 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protocadherin-1 is a protein that in humans is encoded by the PCDH1 gene. ^{[5] [6]}

This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracellular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000156453 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000051375 - 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. 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. doi:10.1002/j.1460-2075.1993.tb05878.x. PMC   413453 . PMID   8508762.
6. "Entrez Gene: PCDH1 protocadherin 1".

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.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Del Mastro RG, Wang L, Simmons AD, et al. (1997). "Human chromosome-specific cDNA libraries: new tools for gene identification and genome annotation". Genome Res. 5 (2): 185–94. doi: 10.1101/gr.5.2.185 . PMID   9132272.
• 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.
• 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.
• Colland F, Jacq X, Trouplin V, et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC   442148 . PMID   15231748.
• Ballif BA, Villén J, Beausoleil SA, et al. (2005). "Phosphoproteomic analysis of the developing mouse brain". Mol. Cell. Proteomics. 3 (11): 1093–101. doi: 10.1074/mcp.M400085-MCP200 . PMID   15345747. S2CID   18659460.
• Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID   15592455. S2CID   7200157.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi: 10.1093/dnares/12.2.117 . PMID   16303743.