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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COL15A1
collagen type XV alpha 1 chain
Chromosome 9 · 9q22.33
NCBI Gene: 1306Ensembl: ENSG00000204291.13HGNC: HGNC:2192UniProt: B3KTP7
50PubMed Papers
20Diseases
2Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrixGO:0005615endoplasmic reticulumextracellular exosomeDupuytren Contracturechronic obstructive pulmonary diseaseatrial fibrillationSkin ulcer
✦AI Summary

COL15A1 encodes collagen type XV alpha-1 chain, a FACIT collagen family member with multifaceted biological roles. As a structural component of the extracellular matrix and basement membranes, COL15A1 contributes to extracellular matrix organization and tensile strength 1. The encoded protein, restin, potently inhibits angiogenesis and possesses anti-tumoral properties 2. In normal physiology, COL15A1 expression marks distinct endothelial cell populations in the lung, specifically identifying systemic-venous endothelial cells localized to airways and visceral pleura 3. Regarding disease relevance, downregulation of COL15A1 is associated with reduced sarcopenia risk and improved muscle phenotypes, including higher appendicular lean mass and grip strength 4. In developmental pathology, expanded COL15A1-expressing systemic bronchial endothelial cells appear in FOXF1-deficient alveolar capillary dysplasia, correlating with microvascular loss 5. During pathological extracellular matrix remodeling, premetastatic lungs show decreased COL15A1 levels, suggesting involvement in cancer-associated tissue remodeling 6. In degenerative disc disease, COL15A1 is highly expressed in fibrochondrocytes associated with nucleus pulposus degeneration 7. At the mechanistic level, COL15A1 interacts with P4HB to regulate hepatocellular carcinoma cell growth and malignancy 2. Collectively, COL15A1 functions in vascular biology, extracellular matrix homeostasis, and tumor regulation, with therapeutic potential as a sarcopenia target.

Sources cited
1
COL15A1 marks systemic-venous endothelial cells in the lung localized to airways and visceral pleura
PMID: 34030460
2
COL15A1 downregulation increases appendicular lean mass and grip strength, reducing sarcopenia risk
PMID: 38644354
3
Expanded COL15A1-expressing systemic bronchial endothelial cells present in FOXF1-deficient alveolar capillary dysplasia with pulmonary microvasculature loss
PMID: 37463497
4
Decreased COL15A1 levels detected in premetastatic lungs undergoing extracellular matrix remodeling
PMID: 37903851
5
COL15A1 highly expressed in fibrochondrocytes associated with nucleus pulposus degeneration
PMID: 35874809
6
COL15A1 interacts with P4HB to regulate hepatocellular carcinoma cell growth and possesses anti-angiogenic and anti-tumoral properties
PMID: 37742474
7
COL15A1 encodes collagen type XV alpha-1 chain as a structural component of extracellular matrix
PMID: 9651385
8
COL15A1 promoter has housekeeping gene characteristics and contains cis-acting elements for gene regulation
PMID: 11068203
Disease Associationsⓘ20
Dupuytren ContractureOpen Targets
0.59Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.49Moderate
atrial fibrillationOpen Targets
0.49Moderate
Skin ulcerOpen Targets
0.46Moderate
eye diseaseOpen Targets
0.44Moderate
ulcer diseaseOpen Targets
0.42Moderate
Peyronie diseaseOpen Targets
0.38Weak
Penile FibromatosisOpen Targets
0.37Weak
Abnormal retinal morphologyOpen Targets
0.37Weak
Abnormality of connective tissueOpen Targets
0.37Weak
Palmar FibromatosisOpen Targets
0.37Weak
sarcoidosisOpen Targets
0.37Weak
Conductive hearing impairmentOpen Targets
0.32Weak
atrial flutterOpen Targets
0.31Weak
psoriatic arthritisOpen Targets
0.31Weak
cardiac arrestOpen Targets
0.27Weak
asthmaOpen Targets
0.26Weak
respiratory system diseaseOpen Targets
0.26Weak
decubitus ulcerOpen Targets
0.26Weak
macular holesOpen Targets
0.26Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets2
COLLAGENASE CLOSTRIDIUM HISTOLYTICUMApproved
Collagen hydrolytic enzyme
ulcer disease
OCRIPLASMINApproved
Laminin hydrolytic enzyme
Related Genes
ADAMTSL5Shared pathway100%COL6A5Shared pathway100%COL24A1Shared pathway100%COL22A1Shared pathway100%COL6A6Shared pathway100%ADAMTSL1Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Ovary
35%
Lung
13%
Brain
1%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
COL15A1ADAMTSL5COL6A5COL24A1COL22A1COL6A6ADAMTSL1
PROTEIN STRUCTURE
Preparing viewer…
PDB3N3F · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.53–0.76]
RankingsWhere COL15A1 stands among ~20K protein-coding genes
  • #8,789of 20,598
    Most Researched50
  • #663of 1,025
    FDA-Approved Drug Targets2
  • #6,136of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedCOL15A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrated Single-Cell Atlas of Endothelial Cells of the Human Lung.
PMID: 34030460
Circulation · 2021
1.00
2
Systematic druggable genome-wide Mendelian randomization identifies therapeutic targets for sarcopenia.
PMID: 38644354
J Cachexia Sarcopenia Muscle · 2024
0.90
3
Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.
PMID: 37463497
Am J Respir Crit Care Med · 2023
0.80
4
Structure of the mouse type XV collagen gene, Col15a1, comparison with the human COL15A1 gene and functional analysis of the promoters of both genes.
PMID: 11068203
Matrix Biol · 2000
0.70
5
Complete exon-intron organization of the human gene for the alpha1 chain of type XV collagen (COL15A1) and comparison with the homologous COL18A1 gene.
PMID: 9651385
J Biol Chem · 1998
0.60