COL28A1 Gene Summary [Human]

COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010]

Details

Type
Nonsense Mediated Decay
Official Symbol
COL28A1
Official Name
collagen type XXVIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22442]
Ensembl ID
ENSG00000215018
Bio databases IDs NCBI: 340267 Ensembl: ENSG00000215018
Aliases collagen type XXVIII alpha 1 chain
Synonyms COL28, collagen, type XXVIII, alpha 1, collagen type XXVIII alpha 1 chain, collagen, type XXVIII, α 1, collagen type XXVIII α 1 chain, Collagen xxviii, Col xxviii, Gm466, RGD1564680
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 COL28A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Kunitz/Bovine pancreatic trypsin inhibitor (BPTI) domain
  • von Willebrand factor (vWF) type A domain
  • vWFA
  • Collagen triple helix repeat (20 copies)
  • von Willebrand factor type A domain

Pathways

Biological processes and signaling networks where the COL28A1 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
  • frontotemporal dementia
  • Kawasaki disease
regulated by
  • mirdametinib

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
  • basement membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human COL28A1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cell adhesion
  • collagen fibril organization

Cellular Component

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

Molecular Function

What the gene product does at the molecular level
  • serine-type endopeptidase inhibitor activity
  • extracellular matrix structural constituent conferring tensile strength
  • heparin binding

Gene-Specific Assays for Results You Can Trust

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