Col27a1 Gene Summary [Mouse]

This gene encodes the alpha-1 subunit of type XXVII collagen, one of the low abundance fibril-forming collagens found in cartilage. The encoded protein forms a homotrimeric triple helical procollagen that undergoes proteolytic processing during fibril formation. Transgenic mice lacking a portion of the collagenous domain in the encoded protein exhibit skeletal abnormalities, chondrodysplasia and die at birth because of a lung defect. [provided by RefSeq, Dec 2015]

Details

Type
Retained Intron
Official Symbol
Col27a1
Official Name
collagen, type XXVII, alpha 1 [Source:MGI Symbol;Acc:MGI:2672118]
Ensembl ID
ENSMUSG00000045672
Bio databases IDs NCBI: 373864 Ensembl: ENSMUSG00000045672
Aliases collagen, type XXVII, alpha 1
Synonyms 5730512J02Rik, collagen, type XXVII, alpha 1, collagen type XXVII alpha 1 chain, collagen, type XXVII, α 1, collagen type XXVII α 1 chain, STLS
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse Col27a1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Family of unknown function (DUF5585)
  • Fibrillar collagen C-terminal domain
  • LamG
  • extracellular matrix structural constituent
  • Domain of unknown function (DUF4045)
  • Collagen triple helix repeat (20 copies)
  • Metaviral_G glycoprotein

Pathways

Biological processes and signaling networks where the Col27a1 gene in mouse 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
  • burn
  • primary central nervous system lymphoma
  • breast cancer
  • central nervous system cancer
  • lymphomagenesis
  • epithelial cancer
  • Steel syndrome
  • Peyronie disease
  • Tourette syndrome
  • chronic musculoskeletal pain
regulated by
role in cell
  • organization

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
  • endoplasmic reticulum lumen
  • fibrils

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Col27a1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • endothelial cell morphogenesis
  • skeletal system development
  • notochord development
  • angiogenesis
  • collagen fibril organization
  • growth plate cartilage chondrocyte development

Cellular Component

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

Molecular Function

What the gene product does at the molecular level
  • metal ion binding
  • extracellular matrix structural constituent conferring tensile strength

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.