PCDH1 Gene Summary [Human]

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 extracelllular 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. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
PCDH1
Official Name
protocadherin 1 [Source:HGNC Symbol;Acc:HGNC:8655]
Ensembl ID
ENSG00000156453
Bio databases IDs NCBI: 5097 Ensembl: ENSG00000156453
Aliases protocadherin 1
Synonyms 2010005A06RIK, AXIAL PROTOCADHERIN, Pc1, PC42, PCDH42, protocadherin 1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PCDH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • cytoplasmic domain
  • Cadherin-like
  • Cadherin repeat-like domain
  • protein binding
  • Protocadherin

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • idiopathic pulmonary fibrosis
  • organismal death
  • insomnia
  • Wilms tumorigenesis
  • pancreatic ductal adenocarcinoma
  • pancreatic epithelial cancer
  • ductal pancreatic cancer
regulated by
regulates
role in cell
  • proliferation
  • expression in
  • growth
  • migration
  • adhesion
  • aggregation
  • interaction

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cell junction
  • intracellular membrane-bounded organelle
  • cell surface
  • intercellular junctions
  • nucleoplasm
  • nucleoli

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PCDH1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cell-cell signaling
  • nervous system development
  • cell adhesion
  • homophilic cell adhesion

Cellular Component

Where in the cell the gene product is active
  • cell-cell junction
  • intracellular membrane-bounded organelle
  • cell junction
  • nucleolus
  • plasma membrane
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • calcium ion binding

Gene-Specific Assays for Results You Can Trust

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