CLDN1 Gene Summary [Human]

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
CLDN1
Official Name
claudin 1 [Source:HGNC Symbol;Acc:HGNC:2032]
Ensembl ID
ENSG00000163347
Bio databases IDs NCBI: 9076 Ensembl: ENSG00000163347
Aliases claudin 1, senescence-associated epithelial membrane protein 1
Synonyms Claudin, Claudin-1, CLD1, ILVASC, SEMP1
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 CLDN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • extracellular domain
  • viral receptor
  • cytoplasmic domain
  • ectodomain
  • PMP-22/EMP/MP20/Claudin family
  • extracellular loop
  • protein binding
  • identical protein binding

Pathways

Biological processes and signaling networks where the CLDN1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • colorectal cancer
  • breast cancer
  • metastasis
  • organismal death
  • non-small cell lung cancer
  • NISCH syndrome
  • colon adenocarcinoma
  • colon epithelial cancer
  • asthma
regulated by
  • beta-estradiol
  • TNF
  • butyric acid
  • lipopolysaccharide
  • F7
  • IL1B
  • IFNG
  • rottlerin
  • tetradecanoylphorbol acetate
  • TFAP4
role in cell
  • proliferation
  • apoptosis
  • phosphorylation in
  • expression in
  • migration
  • invasion
  • activation in
  • quantity
  • formation
  • assembly

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
  • raft fractions
  • soluble fraction
  • cell junction
  • cell surface
  • intracellular space
  • cellular membrane
  • intercellular junctions
  • cell-cell contacts
  • tight junctional strands
  • lateral cell surfaces
  • apical membrane
  • basolateral membrane
  • basal membrane
  • lateral plasma membrane
  • paranodal loops
  • paranodes
  • internodes
  • cytoplasmic vesicles
  • endolysosomes
  • tight junctions
  • junctional complexes
  • basement membrane
  • detergent-soluble fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CLDN1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • viral entry into host cell
  • calcium-independent cell-cell adhesion
  • positive regulation of wound healing
  • cell junction maintenance
  • establishment of blood-nerve barrier
  • positive regulation of epithelial cell proliferation involved in wound healing
  • cell adhesion
  • response to toxin
  • establishment of skin barrier
  • cell-cell junction organization
  • cellular response to lead ion
  • response to ethanol
  • cellular response to transforming growth factor beta stimulus
  • response to interleukin-18
  • tight junction assembly
  • cellular response to tumor necrosis factor
  • response to lipopolysaccharide
  • cellular response to interferon-gamma
  • maintenance of blood-brain barrier
  • protein oligomerization
  • positive regulation of cell migration
  • response to dexamethasone stimulus

Cellular Component

Where in the cell the gene product is active
  • tight junction
  • occluding junction
  • lateral plasma membrane
  • membrane
  • macromolecular complex
  • basolateral plasma membrane
  • plasma membrane
  • apical plasma membrane

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein binding
  • structural molecule activity
  • viral receptor activity

Gene-Specific Assays for Results You Can Trust

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