PCDH1

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

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)[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 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 [3] [4]
Wikidata
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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]