COL13A1 Gene Summary [Human]

This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
COL13A1
Official Name
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Ensembl ID
ENSG00000197467
Bio databases IDs NCBI: 1305 Ensembl: ENSG00000197467
Aliases collagen type XIII alpha 1 chain
Synonyms CMS19, Collagen13, collagen, type XIII, alpha 1, collagen type XIII alpha 1 chain, collagen, type XIII, α 1, collagen type XIII α 1 chain, COLLAGEN XIII, COLXIIIA1, Procollagen type xiii alpha1 chain
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 COL13A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • ectodomain
  • Collagen triple helix repeat (20 copies)
  • protein binding
  • heparin binding

Pathways

Biological processes and signaling networks where the COL13A1 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
  • Dupuytren contracture
  • thyroid carcinoma
  • epithelial thyroid cancer
  • myopathy
  • anaplastic thyroid carcinoma
  • anaplastic thyroid cancer
  • congenital myasthenic syndrome type 19
  • Peyronie disease
  • diabetic foot ulcer disorder
  • laser induced choroidal neovascularization
regulated by
regulates
role in cell
  • adhesion
  • differentiation
  • migration
  • development
  • abnormal morphology
  • diameter
  • detachment
  • action potential
  • atrophy

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cell surface
  • Extracellular Space
  • focal adhesions
  • intercellular junctions
  • endoplasmic reticulum lumen
  • neuromuscular junctions
  • synapse
  • sarcolemma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human COL13A1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cell-matrix adhesion
  • morphogenesis of a branching structure
  • skeletal system development
  • cell differentiation
  • extracellular matrix organization
  • endochondral ossification

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum lumen
  • extracellular space
  • cell-cell junction
  • postsynaptic membrane
  • extracellular region
  • collagen type XIII
  • plasma membrane

Molecular Function

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

Gene-Specific Assays for Results You Can Trust

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