OCLN Gene Summary [Human]
This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]
Details
| Type | Protein Coding |
| Official Symbol | OCLN |
| Official Name | occludin [Source:HGNC Symbol;Acc:HGNC:8104] |
| Ensembl ID | ENSG00000197822 |
| Bio databases IDs | |
| Aliases | occludin, tight junction protein occludin TM4 minus, phosphatase 1, regulatory subunit 115 |
| Synonyms | AI503564, BLCPMG, OCCL, Occludin, Ocl, PPP1R115, PTORCH1, Thiopurine Methyltransferase |
| Species | Human, Homo sapiens |
| Orthologies |
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 OCLN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Membrane-associating domain
- extracellular domain
- cytoplasmic domain
- extracellular loop
- coiled-coil domain
- protein domain specific binding
- protein binding
- cytosolic tail domain
- PDZ binding motif
- proline tyrosine motif
- Occludin homology domain
- phosphorylation site
Pathways
Biological processes and signaling networks where the OCLN 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
- hyperplasia
- pseudo-TORCH syndrome type 1
- organismal death
- band-like calcification with simplified gyration and polymicrogyria
- proximal tubular toxicity
- gastric cancer
- idiopathic pulmonary fibrosis
- leukemia
- serous ovarian adenocarcinoma
- serous ovarian cancer
role in cell
- mitochondrial cell death
- expression in
- formation
- migration
- growth
- production in
- invasion by
- fragmentation
- morphology
- proliferation
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
- detergent-insoluble membrane fraction
- raft fractions
- soluble fraction
- detergent-insoluble fractions
- membrane fraction
- button-like junction
- apicolateral membrane
- cell junction
- Cytoplasm
- cell surface
- cell borders
- perijunctional region
- cell periphery
- basal compartment
- perinuclear region
- cellular membrane
- actin cytoskeleton
- actin filaments
- intercellular junctions
- endothelial paracellular clefts
- cell-cell contacts
- tight junctional strands
- lateral cell surfaces
- apical cell surfaces
- apical membrane
- basolateral membrane
- lateral plasma membrane
- lysosome membrane
- cytoplasmic vesicles
- secretory vesicles
- endocytotic vesicle
- fibrils
- tight junctions
- junctional complexes
- apical cell-cell contacts
- cell membrane leading edge
- cell-cell adherens junctions
- bicellular junction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human OCLN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of lamellipodium assembly
- positive regulation of wound healing
- macromolecular complex assembly
- positive regulation of glucose import
- cell-cell junction organization
- negative regulation of gene expression
- regulation of glucose transport
- negative regulation of protein phosphorylation
- positive regulation of gene expression
- tight junction assembly
- positive regulation of microtubule polymerization
- maintenance of blood-brain barrier
Cellular Component
Where in the cell the gene product is active
- apicolateral plasma membrane
- cell leading edge
- plasma membrane
- lysosomal membrane
- endocytic vesicle
- tight junction
- occluding junction
- cell-cell junction
- cell junction
- cytoplasmic vesicle
- macromolecular complex
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- protein binding