Affinage

COL3A1

Collagen alpha-1(III) chain · UniProt P02461

Length
1466 aa
Mass
138.6 kDa
Annotated
2026-06-09
100 papers in source corpus 22 papers cited in narrative 22 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

COL3A1 encodes the pro-α1(III) chain whose homotrimer forms type III procollagen, an extracellular matrix structural protein essential for the mechanical integrity of arterial and connective tissue walls and for tissue patterning during development (PMID:2834369, PMID:29551664, PMID:21071432). The structural integrity of the Gly-X-Y triple-helical domain is required for normal folding, secretion, and protease processing: triple-helix deletions and glycine substitutions lower thermal stability and impair secretion (PMID:2834369, PMID:2243125, PMID:1496983), while C-terminal helix mutations and exon-skipping events further compromise secretion and remove protease/CNBr cleavage sites (PMID:2145268, PMID:8098182). Splice-site mutations generate context-dependent aberrant transcripts (exon skipping, cryptic site use, intron retention) yielding abnormal procollagen (PMID:2365710, PMID:2145268), whereas frameshift and nonsense mutations trigger nonsense-mediated decay and consequent haploinsufficiency (PMID:11577371). Misfolded mutant chains are retained intracellularly and activate ER stress through the IRE1 and PERK arms, driving reduced proliferation and apoptosis that are reversible by chemical chaperone treatment with 4-phenylbutyric acid (PMID:40280907). At the tissue level, mutant or reduced type III collagen disrupts heterotypic type III:I collagen fibrillogenesis, lowering collagen content and altering fibril architecture in dermis and aorta (PMID:9036918, PMID:29551664), and haploinsufficiency confers susceptibility to thoracic aortic dissection that is exacerbated by angiotensin II-driven hemodynamic stress (PMID:21071432, PMID:23630948). Beyond its structural role, type III collagen functions as an ECM ligand: it controls α2β1 integrin function and downstream fibronectin/integrin receptor recruitment (PMID:14970208), and serves as the ligand for GPR56 required for pial basement membrane integrity and cortical lamination, with biallelic loss causing cobblestone-like cortical malformation (PMID:22235340, PMID:28258187). COL3A1 expression is controlled transcriptionally by YY1 and post-transcriptionally by ELAVL1-mediated mRNA stabilization (PMID:38530094), and by an aldosterone-induced NEDD9–NKX2-5 pathway that drives collagen III expression in pulmonary artery endothelial cells independently of TGF-β (PMID:29899023). Dominant glycine and splice mutations underlie vascular Ehlers-Danlos syndrome (EDS IV) and familial aortic aneurysm/dissection (PMID:2243125, PMID:9036918).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 1988 High

    Established that triple-helix structural integrity is a prerequisite for normal folding, secretion, and processing of type III procollagen, defining the molecular logic of dominant COL3A1 disease.

    Evidence Biochemical analysis of a triple-helical domain deletion in patient fibroblasts with thermal stability and secretion assays

    PMID:2834369

    Open questions at the time
    • Did not address how reduced thermal stability translates to tissue-level fragility
    • Single deletion allele tested
  2. 1990 High

    Showed that point glycine substitutions in the triple helix destabilize the collagen molecule and cause familial aortic aneurysm, and that splice-site mutations produce context-dependent aberrant transcripts.

    Evidence Thermal unfolding assays on fibroblast-derived mutant procollagen and comparative RNA/cDNA analysis of multiple splice mutations

    PMID:2145268 PMID:2243125 PMID:2349939 PMID:2365710

    Open questions at the time
    • Did not establish in vivo tissue consequences
    • Splicing outcome rules predictive only for the introns tested
  3. 1992 Medium

    Localized secretion sensitivity to the C-terminal region of the helix, showing C-terminal glycine substitutions strongly impair procollagen secretion.

    Evidence Secreted collagen quantification, SDS-PAGE migration and trypsin sensitivity assays in patient fibroblasts

    PMID:1496983 PMID:8098182

    Open questions at the time
    • Single lab
    • Mechanistic basis of position-dependent secretion defect not resolved
  4. 1997 High

    Connected molecular mutation type to ultrastructural matrix pathology, showing reduced fibril diameter, dilated rough ER, and lower dermal collagen content correlating with mutation position.

    Evidence Light, transmission and scanning electron microscopy of skin biopsies from 22 genotyped EDS IV patients

    PMID:9036918

    Open questions at the time
    • Correlation descriptive, not causal
    • Did not define the signaling consequence of dilated ER
  5. 2001 High

    Distinguished haploinsufficiency from dominant-negative mechanisms by showing premature termination codons trigger NMD while a final-exon truncation escapes decay but fails to incorporate into trimers.

    Evidence RT-PCR, mRNA stability assays and protein analysis of patient fibroblast media

    PMID:11577371

    Open questions at the time
    • Did not quantify phenotypic difference between haploinsufficient and dominant-negative patients
    • Limited mutation set
  6. 2004 High

    Revealed a non-structural signaling role: type III collagen controls α2β1 integrin function and fibronectin receptor recruitment, with rescue by exogenous collagen establishing causality.

    Evidence Immunofluorescence, western blot, function-blocking antibodies and purified-collagen rescue in EDS IV patient fibroblasts

    PMID:14970208

    Open questions at the time
    • Downstream integrin signaling cascade not mapped
    • Relevance to in vivo vascular phenotype not tested
  7. 2010 High

    Demonstrated that Col3a1 haploinsufficiency alone causes autosomal-dominant susceptibility to thoracic aortic dissection via aberrant aortic fibrillogenesis, independent of blood pressure or aneurysm.

    Evidence Spontaneous mouse deletion mutant with molecular genetics, echocardiography and histology

    PMID:21071432

    Open questions at the time
    • Did not identify the hemodynamic trigger of dissection
    • Mechanism of selective thoracic vulnerability unclear
  8. 2012 High

    Identified type III collagen as a structural ligand required for pial basement membrane integrity, with loss causing neuronal overmigration and cobblestone cortical malformation.

    Evidence Col3a1 knockout mouse with time-course histology and immunofluorescence, including α-dystroglycan negative control

    PMID:22235340

    Open questions at the time
    • Receptor mediating the developmental requirement not identified in this study
    • Did not test rescue
  9. 2013 Medium

    Showed angiotensin II selectively precipitates aortic dissection in haploinsufficient mice beyond its blood-pressure effect, implicating an angiotensin II-specific vulnerability of collagen-poor walls.

    Evidence Angiotensin II versus norepinephrine infusion in Col3a1+/- mice with echocardiography, histology and mortality comparison

    PMID:23630948

    Open questions at the time
    • Angiotensin II-specific molecular pathway not defined
    • Single lab
  10. 2014 High

    Established that the N-terminal propeptide domain can confer a fibrotic gain-of-function, mechanistically distinct from loss-of-function EDS IV mutations.

    Evidence Linkage, RNA-seq, genome capture sequencing and in vivo/in vitro genetic complementation in Tsk2/+ mice

    PMID:25330296

    Open questions at the time
    • Molecular pathway driving excess ECM deposition not defined
    • Mouse-specific; human relevance untested
  11. 2015 Medium

    Defined a role for the C-propeptide in initiating C-terminal assembly of procollagen monomers and used structural data to inform variant pathogenicity.

    Evidence X-ray crystallography of C-propeptide variants combined with clinical phenotyping

    PMID:25846194

    Open questions at the time
    • Limited mechanistic outcome detail reported
    • Single study
  12. 2017 Medium

    Linked biallelic COL3A1 loss to a GPR56-like cortical phenotype, establishing the type III collagen–GPR56 ligand–receptor axis in cortical lamination.

    Evidence Exome sequencing, fibroblast functional assays and brain MRI across multiple families

    PMID:28258187

    Open questions at the time
    • Direct collagen III–GPR56 binding not demonstrated here
    • Three families only
  13. 2018 High

    Defined upstream and downstream consequences of COL3A1 dysregulation: an aldosterone-driven NEDD9–NKX2-5 pathway drives COL3A1 transcription in pulmonary fibrosis, mutant collagen disrupts heterotypic III:I fibrillogenesis in vivo, and dominant-negative mutations perturb ECM assembly and ER homeostasis.

    Evidence Microscale thermophoresis, ChIP and PAH models; transgenic glycine-substitution mouse with EM; transcriptome plus protein analysis of patient fibroblasts

    PMID:29346445 PMID:29551664 PMID:29899023

    Open questions at the time
    • NEDD9-NKX2-5 pathway shown in PAH context only
    • ECM disassembly findings from a single lab
  14. 2023 High

    Showed that vEDS patient-derived matrix has altered composition and viscoelastic properties that impair endothelial cell migration, linking the mutation to mechanical and functional ECM defects.

    Evidence Cell-derived ECM, mass spectrometry, GAG quantification, AFM/rheology and endothelial migration assay

    PMID:37187299

    Open questions at the time
    • Single lab
    • In vitro ECM may not reflect arterial wall mechanics
  15. 2024 Medium

    Identified transcriptional (YY1) and post-transcriptional (ELAVL1) regulators of COL3A1 and implicated COL3A1 in cisplatin resistance in NSCLC.

    Evidence ChIP, luciferase reporter, mRNA stability and loss-of-function assays in NSCLC cells

    PMID:38530094

    Open questions at the time
    • Cancer-cell context; relevance to connective tissue regulation unknown
    • Single lab
  16. 2025 High

    Established ER stress via IRE1/PERK as an operative pathomechanism of glycine mutations and demonstrated pharmacological rescue with the chemical chaperone 4-phenylbutyric acid.

    Evidence ER stress pathway, thermal stability, secretion, proliferation and apoptosis assays with PBA rescue in patient fibroblasts

    PMID:40280907

    Open questions at the time
    • Rescue efficacy mutation-position dependent
    • In vivo therapeutic validation absent

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the structural, integrin-signaling, GPR56-developmental, and ER-stress functions of type III collagen are integrated to produce tissue-specific disease, and whether ER-stress or transcriptional modulation can be therapeutically exploited in vivo, remains unresolved.
  • No in vivo therapeutic proof for PBA or pathway modulation
  • Mechanistic link between matrix mechanics and clinical vascular events incomplete

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0048018 receptor ligand activity 3
Localization
GO:0031012 extracellular matrix 3 GO:0005576 extracellular region 2 GO:0005783 endoplasmic reticulum 2
Pathway
R-HSA-1474244 Extracellular matrix organization 3 R-HSA-1266738 Developmental Biology 2 R-HSA-8953897 Cellular responses to stimuli 1
Partners
ELAVL1FN1GPR56ITGA2NEDD9NKX2-5YY1

Evidence

Reading pass · 22 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1988 A multi-exon deletion in one COL3A1 allele (3.3 kb deletion in the triple-helical coding domain) produces type III procollagen with decreased thermal stability, reduced secretion efficiency, and impaired processing, establishing that structural integrity of the triple helix is required for normal folding, secretion, and protease processing of type III collagen. Fibroblast culture biochemical analysis, mRNA/protein analysis, thermal stability assay The Journal of biological chemistry High 2834369
1990 A glycine-to-arginine substitution (G619R) in the triple-helical domain of COL3A1 decreases the thermal unfolding temperature of type III procollagen in cultured skin fibroblasts, demonstrating that glycine substitutions in the triple helix destabilize the collagen molecule and cause familial aortic aneurysms. Cultured skin fibroblast analysis, thermal unfolding assay, DNA sequencing The Journal of clinical investigation High 2243125
1990 Identical G+1 splice-site mutations in three different introns of COL3A1 produce distinct patterns of aberrant RNA splicing (exon skipping, cryptic splice site use, or intron retention), demonstrating that context of adjacent introns—not the mutation per se—determines the splicing outcome. RNA analysis, cDNA sequencing, splice-site analysis The Journal of biological chemistry High 2365710
1990 A splice-site mutation (G+1 IVS20 → A) in COL3A1 causes aberrant RNA splicing producing structurally abnormal type III procollagen; the resulting protein has impaired secretion and function, leading to vascular rupture phenotype. RNA splicing analysis, fibroblast protein studies, DNA sequencing American journal of human genetics Medium 2349939
1990 A splice-site mutation (G-to-A at the GT dinucleotide of intron 41 donor site) in COL3A1 causes exon 41 skipping, producing a type III procollagen molecule lacking the collagenase cleavage site (Gly781-Ile782) and the cyanogen bromide site (Met797), making it resistant to both collagenase and CNBr digestion; secretion is markedly reduced and thermal stability is decreased. cDNA sequencing, CNBr peptide mapping, chemical cleavage heteroduplex analysis, protein secretion assay The Journal of biological chemistry High 2145268
1992 Glycine-to-aspartate substitution at position 1018 in the COL3A1 triple helix markedly decreases secretion of type III procollagen by cultured fibroblasts, demonstrating that glycine substitutions near the C-terminus of the helix strongly impair secretion. Cultured skin fibroblast protein analysis, PCR/sequencing, quantification of secreted collagen American journal of human genetics Medium 1496983
1993 Glycine-to-glutamic-acid substitution at position 1021 (the most C-terminal glycine mutation characterized at the time) in COL3A1 causes poor secretion of type III procollagen, slower electrophoretic migration (indicating overmodification), and partial instability to trypsin digestion at 25°C, linking C-terminal helix mutations to specific biochemical defects. Fibroblast protein analysis, SDS-PAGE, trypsin sensitivity assay American journal of medical genetics Medium 8098182
1997 Mutations in COL3A1 (point mutations substituting glycine residues near the C-terminus, and exon-skipping mutations) cause ultrastructurally abnormal collagen fibrils in dermis (reduced fibril diameter to 65–80 nm vs. 95–110 nm in normal), dilated rough endoplasmic reticulum, and reduced dermal collagen content; severity of structural changes correlates with position and nature of the mutation. Light microscopy, transmission and scanning electron microscopy of skin biopsies from 22 genotyped EDS IV patients The Journal of investigative dermatology High 9036918
2001 Frameshift and nonsense mutations in COL3A1 leading to premature termination codons cause nonsense-mediated mRNA decay (NMD), resulting in haploinsufficiency for type III procollagen rather than production of structurally abnormal protein; a C-terminal truncation mutation (Arg1432Ter) in the final exon escapes NMD but produces a truncated protein not incorporated into mature type III procollagen trimers. RT-PCR, mRNA stability assay, protein analysis of fibroblast culture media American journal of human genetics High 11577371
2004 Fibroblasts from EDS IV patients with COL3A1 mutations fail to organize type III collagen and fibronectin into extracellular matrix, downregulate α2β1 integrin, and recruit αvβ3 instead of α5β1 integrin; treatment with exogenous purified type III collagen restores normal integrin distribution and ECM organization, demonstrating that type III collagen controls α2β1 integrin function which in turn regulates fibronectin receptor recruitment. Immunofluorescence, western blot, treatment with purified collagen and function-blocking antibodies, ECM organization assays in patient fibroblasts The Journal of biological chemistry High 14970208
2012 Loss of Col3a1 in mice causes breakdown of the pial basement membrane starting at E11.5 with consequent neuronal overmigration, cobblestone-like cortical malformation, and marginal zone heterotopias, establishing type III collagen as a structural ligand required for pial basement membrane integrity during cortical development; α-dystroglycan expression and modification were unaffected in Col3a1-null meningeal fibroblasts. Histological analysis, immunofluorescence, Col3a1 knockout mouse model, time-course developmental analysis PloS one High 22235340
2014 A missense point mutation in the PIIINP (N-terminal propeptide) segment of Col3a1 is the causative gain-of-function mutation in Tsk2/+ mice; this mutation drives excessive ECM deposition and skin fibrosis, establishing that the N-terminal propeptide domain can confer a fibrotic gain-of-function phenotype distinct from the loss-of-function EDS IV mutations. Linkage analysis, RNA sequencing, genome capture DNA sequencing, in vivo and in vitro genetic complementation tests The Journal of investigative dermatology High 25330296
2017 Biallelic (homozygous or compound heterozygous) mutations in COL3A1 are associated with cobblestone-like cortical malformation, white matter changes, and cerebellar cysts similar to the phenotype of GPR56 mutations, establishing that the type III collagen–GPR56 ligand–receptor axis is required for cortical lamination and brain development. Exome sequencing, functional assays on dermal fibroblasts, MRI brain imaging in multiple families Journal of medical genetics Medium 28258187
2018 NEDD9, a SMAD3 docking partner, forms a complex with NKX2-5 transcription factor when SMAD3-NEDD9 interaction is impaired by oxidation of Cys18 (induced by aldosterone); increased NEDD9-NKX2-5 complex binds to the COL3A1 promoter and drives collagen III expression in pulmonary artery endothelial cells, promoting vascular fibrosis in pulmonary arterial hypertension via a TGF-β-independent mechanism. Microscale thermophoresis (protein-protein interaction), atomic force microscopy (cell stiffness), ChIP (NKX2-5 binding to COL3A1), cell culture, animal models of PAH, immunohistochemistry co-localization Science translational medicine High 29899023
2018 Transgenic mice expressing a glycine substitution mutation (p.Gly182Ser) in Col3a1 develop reduced total collagen content, an abnormal collagen III:I ratio, and severely malformed collagen fibrils in dermal and arterial ECM, demonstrating that mutant type III collagen disrupts heterotypic type III:I collagen fibrillogenesis in vivo. Transgenic mouse model, collagen content assay, electron microscopy of collagen fibrils, ratio analysis Matrix biology High 29551664
2018 Dominant-negative COL3A1 mutations in patient fibroblasts cause aberrant type III collagen (COLLIII) expression that leads to disassembly of ECM structural components (fibrillins, EMILINs, elastin) and reduction of proteoglycans (perlecan, decorin, versican), disruption of ER homeostasis markers (PDI distribution, reduction of FKBP22), and altered cell cycle regulation, as revealed by transcriptome and protein analyses. Microarray transcriptome analysis, protein analysis (western blot, immunofluorescence), cultured patient fibroblasts PloS one Medium 29346445
2023 ECM generated from vEDS patient fibroblasts with COL3A1 mutations (including a glycine substitution) shows altered protein composition (upregulation of collagen subtypes and structural proteins), increased glycosaminoglycan content, and unique viscoelastic mechanical properties (increased stress relaxation time constant) compared to healthy donor ECM; this mechanically altered ECM reduces migration speed of seeded human aortic endothelial cells. Cell-derived ECM synthesis from primary patient fibroblasts, mass spectrometry protein content analysis, glycosaminoglycan quantification, atomic force microscopy and rheology for viscoelastic properties, endothelial cell migration assay Acta biomaterialia High 37187299
2025 COL3A1 glycine mutations (G189S and G906R) in patient fibroblasts cause secretion of misfolded collagen III, intracellular collagen retention, ER stress via IRE1 and PERK pathway activation, reduced cell proliferation, and apoptosis; treatment with 4-phenylbutyric acid (PBA) rescues ER stress, improves thermal stability of secreted collagen, reduces apoptosis, and corrects matrix defects, with efficacy influenced by mutation position and allelic heterogeneity. Primary patient fibroblast cultures, ER stress pathway analysis (IRE1/PERK), thermal stability assay, collagen secretion assay, proliferation assay, apoptosis assay, pharmacological rescue with PBA Cell death discovery High 40280907
2024 ELAVL1 (HuR) enhances mRNA stability and expression of COL3A1, while YY1 promotes COL3A1 transcription; both mechanisms contribute to COL3A1 upregulation in cisplatin-resistant NSCLC cells, and COL3A1 knockdown reverses ELAVL1- or YY1-depletion-mediated resistance phenotypes. ChIP assay, luciferase reporter assay, qPCR, western blot, mRNA stability assay, loss-of-function experiments Cancer biology & therapy Medium 38530094
2015 C-propeptide region variants in COL3A1 (exons 49–52) affect the initiation of C-terminal assembly of procollagen monomers in collagen biosynthesis; X-ray crystallographic structural data combined with clinical phenotyping inform pathogenicity classification of missense variants in this domain. X-ray crystallography of C-propeptide region variants, clinical phenotyping, biochemical analysis American journal of medical genetics. Part A Medium 25846194
2010 Haploinsufficiency of Col3a1 (heterozygous 185 kb deletion including promoter and exons 1–39) causes autosomal-dominant susceptibility to thoracic aortic dissection in mice with aberrant collagen fibrillogenesis in the aortic wall, without elevated blood pressure or aneurysm formation. Spontaneous mouse mutant identification, molecular genetic analysis, echocardiography, histological analysis Cardiovascular research High 21071432
2013 Angiotensin II infusion in Col3a1 haploinsufficient mice selectively promotes thoracic aortic dissections and ruptures associated with low aortic collagen fibril content, demonstrating that reduced type III collagen renders the aortic wall mechanically vulnerable to hemodynamic stress; the same blood pressure increase produced by norepinephrine does not cause comparable mortality, implicating angiotensin II-specific effects beyond blood pressure. Angiotensin II infusion model in Col3a1+/- mice, echocardiography, histological analysis, mortality comparison Hypertension Medium 23630948

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2019 Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. Gene 299 31075413
2015 The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. European journal of human genetics : EJHG 182 25758994
1990 A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. The Journal of clinical investigation 167 2243125
1988 Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. The Journal of biological chemistry 161 2834369
2001 Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. American journal of human genetics 144 11577371
2018 NEDD9 targets COL3A1 to promote endothelial fibrosis and pulmonary arterial hypertension. Science translational medicine 118 29899023
1993 Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients. Neurology 118 8255472
2020 Reduced Expression of METTL3 Promotes Metastasis of Triple-Negative Breast Cancer by m6A Methylation-Mediated COL3A1 Up-Regulation. Frontiers in oncology 117 32766145
2011 COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. Genetics in medicine : official journal of the American College of Medical Genetics 104 21637106
2004 Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin. The Journal of biological chemistry 96 14970208
1990 Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. American journal of human genetics 92 2349939
2014 Let-7d suppresses growth, metastasis, and tumor macrophage infiltration in renal cell carcinoma by targeting COL3A1 and CCL7. Molecular cancer 91 25193015
1990 Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others. The Journal of biological chemistry 84 2365710
1997 Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. The Journal of investigative dermatology 81 9036918
1986 Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Human genetics 79 2875936
1990 Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q. Genomics 78 1981051
1996 COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. The British journal of dermatology 75 8881656
2018 miR-29 Family Inhibits Resistance to Methotrexate and Promotes Cell Apoptosis by Targeting COL3A1 and MCL1 in Osteosarcoma. Medical science monitor : international medical journal of experimental and clinical research 69 30518744
1990 A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. The Journal of biological chemistry 64 2145268
2018 MicroRNA-29b-3p prevents Schistosoma japonicum-induced liver fibrosis by targeting COL1A1 and COL3A1. Journal of cellular biochemistry 63 29091295
2018 Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model. Matrix biology : journal of the International Society for Matrix Biology 60 29551664
1997 Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV. American journal of human genetics 59 9399899
2010 Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome. Cardiovascular research 57 21071432
1989 Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1). Gene 56 2777083
2014 Identification of COL3A1 and RAB2A as novel translocation partner genes of PLAG1 in lipoblastoma. Genes, chromosomes & cancer 53 24700772
1992 Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. American journal of human genetics 48 1496983
1991 Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. American journal of human genetics 47 1998337
1989 Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse. British heart journal 47 2930668
1988 Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree. Human genetics 46 3162228
1993 Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring. American journal of human genetics 43 8317500
2009 COL3A1 2209G>A is a predictor of pelvic organ prolapse. International urogynecology journal and pelvic floor dysfunction 42 19444361
2021 COL3A1 and MMP9 Serve as Potential Diagnostic Biomarkers of Osteoarthritis and Are Associated With Immune Cell Infiltration. Frontiers in genetics 41 34512730
2012 Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination. PloS one 38 22235340
2009 Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. European journal of human genetics : EJHG 37 19455184
2018 Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. PloS one 36 29346445
1992 A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation. Human genetics 35 1352273
2021 miR-29a-3p-dependent COL3A1 and COL5A1 expression reduction assists sulforaphane to inhibit gastric cancer progression. Biochemical pharmacology 34 33819468
2019 Long noncoding RNA DNM3OS promotes prostate stromal cells transformation via the miR-29a/29b/COL3A1 and miR-361/TGFβ1 axes. Aging 34 31694982
1991 Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family. Human genetics 32 1684560
2017 Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. Journal of medical genetics 31 28258187
2010 Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European journal of human genetics : EJHG 31 20648054
2002 Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections. Journal of neurology 31 12140670
1995 Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping. The Journal of investigative dermatology 31 7665911
1992 A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV. Human genetics 30 1370809
2004 Association between COL3A1 collagen gene exon 31 polymorphism and risk of floppy mitral valve/mitral valve prolapse. International journal of cardiology 29 15193836
1993 Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV. American journal of medical genetics 29 8098182
2015 Overrepresentation of the COL3A1 AA genotype in Polish skiers with anterior cruciate ligament injury. Biology of sport 28 26060338
2013 Angiotensin II promotes thoracic aortic dissections and ruptures in Col3a1 haploinsufficient mice. Hypertension (Dallas, Tex. : 1979) 28 23630948
2010 Traumatic subarachnoid hemorrhage and the COL3A1 gene: emergence of a potential causal link. Forensic science, medicine, and pathology 28 21086191
1988 Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2. Genomics 26 3224983
2002 Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. The European respiratory journal 25 11843319
2014 The Tsk2/+ mouse fibrotic phenotype is due to a gain-of-function mutation in the PIIINP segment of the Col3a1 gene. The Journal of investigative dermatology 24 25330296
2002 Genetic variability in the extracellular matrix as a determinant of cardiovascular risk: association of type III collagen COL3A1 polymorphisms with coronary artery disease. Blood 24 12149201
2022 Radiation increases COL1A1, COL3A1, and COL1A2 expression in breast cancer. Open medicine (Warsaw, Poland) 23 35274048
2021 COL3A1 rs1800255 polymorphism is associated with pelvic organ prolapse susceptibility in Caucasian individuals: Evidence from a meta-analysis. PloS one 23 33930075
2017 Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. American journal of medical genetics. Part A 22 28742248
2022 Silencing of COL3A1 represses proliferation, migration, invasion, and immune escape of triple negative breast cancer cells via down-regulating PD-L1 expression. Cell biology international 21 35930601
2021 Lnc-GULP1-2:1 affects granulosa cell proliferation by regulating COL3A1 expression and localization. Journal of ovarian research 21 33472700
2009 The relationship between COL3A1 exon 31 polymorphism and pelvic organ prolapse. The Journal of urology 21 19152942
2006 Extracellular matrix containing mutated fibrillin-1 (Fbn1) down regulates Col1a1, Col1a2, Col3a1, Col5a1, and Col5a2 mRNA levels in Tsk/+ and Tsk/Tsk embryonic fibroblasts. Amino acids 21 16583319
2001 Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. Matrix biology : journal of the International Society for Matrix Biology 21 11566270
2017 Dexmedetomidine Protects PC12 Cells from Lidocaine-Induced Cytotoxicity Through Downregulation of COL3A1 Mediated by miR-let-7b. DNA and cell biology 20 28436683
2000 Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. Human mutation 20 10923041
1990 Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2. Genomics 20 1979060
1986 The pro alpha 2(V) collagen gene (COL5A2) maps to 2q14----2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1). Human genetics 20 3011647
2007 RNAi-mediated inhibition of COL1A1 and COL3A1 in human skin fibroblasts. Experimental dermatology 19 17576241
2003 Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. Clinical genetics 19 12694234
2020 Role of COL3A1 and POSTN on Pathologic Stages of Esophageal Cancer. Technology in cancer research & treatment 18 33280513
2019 Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility. Genetics in medicine : official journal of the American College of Medical Genetics 18 30837697
2001 Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis. Journal of internal medicine 17 11168790
1993 A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. Journal of medical genetics 17 8320698
2022 Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports. Clinical and experimental rheumatology 16 35587586
1999 Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives. American journal of medical genetics 16 10051163
2014 Collagen type III alpha 1 polymorphism (rs1800255, COL3A1 2209 G>A) assessed with high-resolution melting analysis is not associated with pelvic organ prolapse in the Dutch population. International urogynecology journal 15 24760181
2019 Polymorphism rs1800255 from COL3A1 gene and the risk for pelvic organ prolapse. International urogynecology journal 14 31041498
2007 Developmental changes of Col3a1 mRNA expression in muscle and their association with intramuscular collagen in pigs. Journal of genetics and genomics = Yi chuan xue bao 14 17498619
2021 A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement. Molecular genetics & genomic medicine 13 34318601
2015 Dysregulated COL3A1 and RPL8, RPS16, and RPS23 in Disc Degeneration Revealed by Bioinformatics Methods. Spine 13 25893343
2015 A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular Ehlers-Danlos syndrome and a novel missense mutation in COL3A1. Chest 12 25940258
1996 A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific. Journal of molecular evolution 12 8919863
1992 A 15 base-pair AT-rich variable number tandem repeat in the type III procollagen gene (COL3A1) as an informative marker for 2q31-2q32.3. Matrix (Stuttgart, Germany) 12 1560789
2022 Knockdown of lncRNA-NEAT1 expression inhibits hypoxia-induced scar fibroblast proliferation through regulation of the miR-488-3p/COL3A1 axis. Experimental and therapeutic medicine 11 35720634
2019 Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation. Internal medicine (Tokyo, Japan) 11 31391389
1994 Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism. Genomics 11 8020975
2024 Role and mechanism of COL3A1 in regulating the growth, metastasis, and drug sensitivity in cisplatin-resistant non-small cell lung cancer cells. Cancer biology & therapy 10 38530094
2021 COL3A1 and Its Related Molecules as Potential Biomarkers in the Development of Human Ewing's Sarcoma. BioMed research international 10 35047627
2017 A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family. Vascular and endovascular surgery 10 28183226
2013 A new COL3A1 mutation in Ehlers-Danlos syndrome type IV. Experimental dermatology 10 23489429
2010 Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene. Internal medicine (Tokyo, Japan) 10 20720362
2008 A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections. Heart and vessels 10 18389341
1994 Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. Human mutation 10 8019562
2023 Patient-derived extracellular matrix demonstrates role of COL3A1 in blood vessel mechanics. Acta biomaterialia 9 37187299
2016 Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report. Journal of medical case reports 9 27799058
1991 Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. Journal of medical genetics 9 1757960
2025 Unveiling ADAMTS12: A key driver of bladder cancer progression via COL3A1-Mediated activation of the FAK/PI3K/AKT signaling pathway. The Journal of biological chemistry 8 39761856
2025 The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome. Cell death discovery 8 40280907
2024 RNF185 Control of COL3A1 Expression Limits Prostate Cancer Migration and Metastatic Potential. Molecular cancer research : MCR 8 37831068
2022 Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants. American journal of medical genetics. Part A 8 35543214
2016 miRNA-29a targets COL3A1 to regulate the level of type III collagen in pig. Gene 8 27476968
2015 Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene. American journal of medical genetics. Part A 8 25846194

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