LORICRIN Gene Summary [Human]
This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | LORICRIN |
| Official Name | loricrin cornified envelope precursor protein [Source:HGNC Symbol;Acc:HGNC:6663] |
| Ensembl ID | ENSG00000203782 |
| Bio databases IDs | |
| Aliases | loricrin cornified envelope precursor protein |
| Synonyms | LOR, loricrin cornified envelope precursor protein, RGD1559993 |
| 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 LORICRIN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- structural constituent of cytoskeleton
- Major keratinocyte cell envelope protein
- structural constituent of epidermis
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- psoriasis
- Netherton syndrome
- plaque psoriasis
- breast cancer
- loricrin keratoderma
- erythroderma
- atopic dermatitis
- erythrokeratodermia variabilis
- dermatological disorder
- oral submucous fibrosis
role in cell
- phosphorylation in
- binding in
- differentiation
- growth
- production
- maturation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cornified envelope
- cell periphery
- cellular membrane
- Nucleus
- granules
- cytosol
- cytoplasmic face of plasma membrane
- nucleoplasm
- loricrin granules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LORICRIN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- keratinocyte differentiation
- cytoskeleton organization
- keratinization
- peptide cross-linking
Cellular Component
Where in the cell the gene product is active
- cornified envelope
- cytoplasm
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- structural constituent of epidermis
- protein binding
- structural constituent of cytoskeleton