PCDH1

Protocadherin-1 is a protein that in humans is encoded by the PCDH1 gene.

PCDH1
Identifiers
Aliases	PCDH1, PC42, PCDH42, protocadherin 1
External IDs	OMIM: 603626; MGI: 104692; HomoloGene: 12613; GeneCards: PCDH1; OMA:PCDH1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5q31.3 Start 141,853,090 bp End 141,879,246 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18 B3|18 20.08 cM Start 38,318,967 bp End 38,345,106 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of pharynx beta cell mucosa of transverse colon right lung minor salivary glands skin of arm apex of heart upper lobe of left lung skin of leg olfactory zone of nasal mucosa Top expressed in dentate gyrus of hippocampal formation granule cell superior frontal gyrus esophagus lip primary visual cortex yolk sac genital tubercle tail of embryo intestinal villus epithelium of small intestine 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
Wikidata
View/Edit Human View/Edit Mouse

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.

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.