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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COL14A1
collagen type XIV alpha 1 chain
Chromosome 8 · 8q24.12
NCBI Gene: 7373Ensembl: ENSG00000187955.14HGNC: HGNC:2191UniProt: Q05707
58PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615extracellular regionextracellular matrixRNA bindinginfluenzaaneurysmdiabetes mellitusAbnormality of the immune system
✦AI Summary

COL14A1 encodes collagen type XIV alpha 1 chain, a 193.2 kDa protein composed of 1797 amino acids with a signal peptide and mature polypeptide domain structure 1. The protein contains fibronectin type III repeats, von Willebrand factor A domains, thrombospondin-N-terminal-like domains, and two triple-helical domains characteristic of collagen family members 1. COL14A1 plays an adhesive role in extracellular matrix organization by integrating collagen bundles, likely associating with interstitial collagen fibrils via COL1, with its N-terminal globular domain protruding into the extracellular space to interact with matrix molecules and cell surface receptors. In cancer biology, COL14A1 is upregulated in premetastatic lungs exposed to primary breast tumor-derived factors, contributing to ECM remodeling and increased interstitial fibrillar collagen deposition that facilitates metastasis 2. COL14A1 is specifically expressed in inflammatory CAF (iCAF) subtypes within tumors 3. Furthermore, hepatocellular carcinoma-derived circulating cancer stem cells upregulate COL14A1 expression through a hypoxia-responsive pathway involving the HIF-1α/circ-CDYL-EEF1A2 axis, promoting epithelial-mesenchymal transition and lung metastasis 4. In contrast, COL14A1 polymorphisms show no association with Achilles tendon injuries despite the protein's involvement in tendon-related biological processes 5.

Sources cited
1
COL14A1 encodes a 1797 amino acid protein with signal peptide, and contains fibronectin type III repeats, von Willebrand factor A domains, thrombospondin-N-terminal-like domains, and two triple-helical domains
PMID: 15065570
2
COL14A1 is upregulated in premetastatic lungs and contributes to ECM remodeling that increases interstitial fibrillar collagen and facilitates metastasis
PMID: 37903851
3
COL14A1 is specifically expressed in inflammatory CAF (iCAF) subtypes in tumor stroma
PMID: 37728068
4
COL14A1 is upregulated via HIF-1α/circ-CDYL-EEF1A2 pathway in hepatocellular carcinoma-derived circulating cancer stem cells, promoting epithelial-mesenchymal transition and lung metastasis
PMID: 37852428
5
COL14A1 polymorphisms tested show no significant association with Achilles tendon injuries
PMID: 17960519
Disease Associationsⓘ20
influenzaOpen Targets
0.34Weak
aneurysmOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.29Weak
Abnormality of the immune systemOpen Targets
0.27Weak
squamous cell carcinomaOpen Targets
0.23Weak
Abnormality of the skeletal systemOpen Targets
0.15Weak
MODYOpen Targets
0.11Weak
type 1 diabetes mellitusOpen Targets
0.10Suggestive
adolescent idiopathic scoliosisOpen Targets
0.08Suggestive
maturity-onset diabetes of the young type 2Open Targets
0.07Suggestive
maturity-onset diabetes of the young type 4Open Targets
0.07Suggestive
maturity-onset diabetes of the young type 6Open Targets
0.07Suggestive
diabetes mellitus, transient neonatal, 2Open Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.06Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.05Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
ovarian cancerOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FN1Protein interaction100%COL1A2Protein interaction94%COL6A1Protein interaction94%DCNProtein interaction94%ELNProtein interaction94%LUMProtein interaction94%
Tissue Expression6 tissues
Ovary
100%
Heart
67%
Lung
21%
Liver
13%
Brain
4%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
COL14A1FN1COL1A2COL6A1DCNELNLUM
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q05707
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.49–0.67]
RankingsWhere COL14A1 stands among ~20K protein-coding genes
  • #7,852of 20,598
    Most Researched58
  • #4,975of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedCOL14A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Hypoxia-induced circ-CDYL-EEF1A2 transcriptional complex drives lung metastasis of cancer stem cells from hepatocellular carcinoma.
PMID: 37852428
Cancer Lett · 2023
1.00
2
Primary breast tumor induced extracellular matrix remodeling in premetastatic lungs.
PMID: 37903851
Sci Rep · 2023
0.90
3
The collagen landscape in cancer: profiling collagens in tumors and in circulation reveals novel markers of cancer-associated fibroblast subtypes.
PMID: 37728068
J Pathol · 2024
0.80
4
Comparative cytogenetic mapping of COL14A1, the gene for human and mouse collagen XIV.
PMID: 10393435
Cytogenet Cell Genet · 1999
0.70
5
The COL12A1 and COL14A1 genes and Achilles tendon injuries.
PMID: 17960519
Int J Sports Med · 2008
0.60