PRELP Gene Summary [Human]
The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PRELP |
| Official Name | proline and arginine rich end leucine rich repeat protein [Source:HGNC Symbol;Acc:HGNC:9357] |
| Ensembl ID | ENSG00000188783 |
| Bio databases IDs | |
| Aliases | proline and arginine rich end leucine rich repeat protein, prolargin proteoglycan |
| Synonyms | 7330409J17Rik, LOC100363743, MST161, MSTP161, Prolargin, proline and arginine rich end leucine rich repeat protein, proline arginine-rich end leucine-rich repeat, SLRR2A |
| 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 PRELP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- leucine rich domain
- protein phosphatase 1 regulatory subunit 42
- extracellular matrix structural constituent conferring compression resistance
- Leucine rich repeat
- heparin binding domain
- extracellular matrix structural constituent
- Leucine rich repeat N-terminal domain
- Leucine Rich repeats (2 copies)
- basic domain
- heparin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- rheumatoid arthritis
- ulcerative colitis
- preeclampsia
- osteoarthritis
- squamous-cell carcinoma
- squamous cell cancer
- chronic sinusitis
- endometriosis
- aldosterone producing adrenocortical adenoma
- adenoma formation
role in cell
- expression in
- proliferation
- growth
- morphology
- senescence in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Golgi lumen
- lysosomal compartment
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRELP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal system development
- cellular senescence
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- lysosomal lumen
- extracellular matrix
- extracellular region
- Golgi lumen
Molecular Function
What the gene product does at the molecular level
- extracellular matrix structural constituent conferring compression resistance
- heparin binding
- extracellular matrix structural constituent