COL25A1 Gene Summary [Human]

This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Details

Type
Protein Coding
Official Symbol
COL25A1
Official Name
collagen type XXV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:18603]
Ensembl ID
ENSG00000188517
Bio databases IDs NCBI: 84570 Ensembl: ENSG00000188517
Aliases collagen type XXV alpha 1 chain
Synonyms 2700062B08Rik, AMY, CFEOM5, CLAC, CLAC-P, collagen, type XXV, alpha 1, collagen type XXV alpha 1 chain, collagen, type XXV, α 1, collagen type XXV α 1 chain, LOC102553088
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 COL25A1 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
  • NC1 domain
  • nc3 domain
  • Collagen triple helix repeat (20 copies)
  • coiled-coil domain
  • beta-amyloid binding
  • heparin binding
  • identical protein binding

Pathways

Biological processes and signaling networks where the COL25A1 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.
binds
disease
  • schizophrenia
  • Alzheimer disease
  • Dupuytren contracture
  • Peyronie disease
  • congenital fibrosis of extraocular muscles type 5
  • respiratory failure
  • centronuclear myopathy
  • diabetic foot ulcer disorder
  • burn
  • cyanosis
regulated by
regulates
role in cell
  • apoptosis
  • number
  • loss
  • abnormal morphology
  • innervation by
  • degeneration
  • proteolysis
  • activation
  • branching
  • aggregation

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
  • cell surface
  • Extracellular Space
  • Plasma Membrane
  • endoplasmic reticulum lumen

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human COL25A1 gene, providing context for its role in the cell.

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum lumen
  • extracellular space
  • collagen
  • membrane
  • extracellular region
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • extracellular matrix structural constituent conferring tensile strength
  • heparin binding
  • beta-amyloid binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.