Affinage

COL5A1

Collagen alpha-1(V) chain · UniProt P20908

Length
1838 aa
Mass
183.6 kDa
Annotated
2026-06-09
100 papers in source corpus 21 papers cited in narrative 20 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/6 claims corpus-supported (83%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

COL5A1 encodes the pro-α1(V) chain of type V collagen, a quantitatively minor fibrillar collagen that acts as a dominant regulator of collagen fibrillogenesis: it nucleates heterotypic fibrils and controls their number, diameter, and organization during connective tissue assembly (PMID:22159420, PMID:16492673). In vivo loss-of-function and haploinsufficiency reveal that fibril nucleation is exquisitely sensitive to collagen V dose — a ~50% reduction yields fewer fibrils, two abnormal fibril subpopulations, increased diameter heterogeneity, and tissue-level defects in cornea, skin, and tendon, with fibril diameter inversely proportional to the type V/type I ratio (PMID:22159420, PMID:16492673, PMID:15095409). At the cell-matrix interface, collagen V controls α2β1 integrin organization, which in turn governs fibronectin receptor recruitment and ECM assembly (PMID:14970208). COL5A1 haploinsufficiency — caused by null and translocation alleles, splice-site mutations producing premature stop codons subject to nonsense-mediated mRNA decay, signal-peptide mutations blocking ER translocation, and C-propeptide mutations preventing chain incorporation — is the principal molecular mechanism of classical Ehlers-Danlos syndrome (PMID:9042913, PMID:10796876, PMID:10777716, PMID:11278977, PMID:18972565, PMID:8673139). Reduced collagen V also dysregulates matrix-to-cell TGF-β/Smad signaling, contributing to abnormal wound healing and predisposition to aortic dissection in animal models (PMID:34740257, PMID:34041919). Expression is governed by a TATA-less, GC-rich promoter bound by Sp1, CBF, and the osteoblast-specific factor Sp7/Osterix, and post-transcriptionally by 3'-UTR elements including miR-29b and miR-608 binding sites that tune mRNA stability (PMID:21609763, PMID:20888414, PMID:15246108, PMID:28829698).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 1995 Medium

    Established the architecture of the COL5A1 promoter, defining how the gene's transcription is controlled at the cis level.

    Evidence 5' deletion reporter assays, EMSA, and transcription start site mapping

    PMID:7646438

    Open questions at the time
    • TATA-less GC-rich promoter with multiple Sp1 sites mapped but cell-type-specific factors not yet identified
    • no link to differentiation-stage regulation
  2. 1996 Medium

    Demonstrated that COL5A1 loss-of-function causes EDS through haploinsufficiency rather than dominant-negative protein, resolving the disease mechanism.

    Evidence translocation breakpoint mapping in COL5A1 intron 24 and fibroblast collagen biochemistry; plus splice-site deletion analysis affecting the C-propeptide

    PMID:8673139 PMID:8923000

    Open questions at the time
    • single family/patient per mutation
    • downstream tissue consequences of reduced collagen V not yet characterized
  3. 1997 High

    Pinpointed the C-propeptide cysteine and splice-site mutations that prevent pro-α1(V) incorporation into trimers, biochemically anchoring the haploinsufficiency model.

    Evidence mutation analysis, fibroblast collagen biochemistry, four-generation family segregation

    PMID:9042913

    Open questions at the time
    • mechanism of intracellular handling of mutant chains not detailed
    • fibril-level consequences inferred not imaged in this study
  4. 2000 High

    Quantified nonsense-mediated mRNA decay of mutant alleles as a common (~one-third) molecular route to classical EDS, generalizing the haploinsufficiency mechanism across patients.

    Evidence RT-PCR allele expression analysis with cycloheximide NMD rescue, replicated in a parallel cohort

    PMID:10777716 PMID:10796876

    Open questions at the time
    • does not account for the remaining two-thirds of EDS cases
    • no genotype-phenotype severity correlation
  5. 2001 High

    Connected a specific splice mutation through NMD to α1(V) haploinsufficiency and abnormal dermal fibril ultrastructure, linking the molecular lesion to the structural phenotype.

    Evidence RT-PCR, RNase protection, cycloheximide rescue, and TEM of dermal biopsy

    PMID:11278977

    Open questions at the time
    • single mutation
    • quantitative relationship between transcript level and fibril defect not established
  6. 2002 Medium

    Showed that some splice mutations yield secreted mutant chains with abnormal N-propeptides that incorporate into matrix and disrupt fibril structure, defining a non-NMD pathogenic route.

    Evidence RT-PCR characterization of order-dependent splice products and EM of fibril structure

    PMID:12145749

    Open questions at the time
    • single lab
    • relative contribution of secreted-mutant vs haploinsufficiency mechanisms unquantified
  7. 2004 High

    Defined the cellular consequence of collagen V loss — failure to organize ECM via control of α2β1 integrin and fibronectin receptor recruitment — and confirmed dose-sensitivity of fibril deposition.

    Evidence patient fibroblasts, purified collagen V rescue, function-blocking antibodies; hydroxyproline and fibril morphology quantification with OI comparison; plus identification of COL5A1 as a TGF-β1-induced osteoblast gene

    PMID:14970208 PMID:15095409 PMID:15579311

    Open questions at the time
    • integrin signaling pathway downstream of α2β1 not traced
    • fibril count sensitivity mechanism not molecularly resolved
  8. 2004 Medium

    Mapped trans-acting factors at the promoter (Sp1, CBF), advancing the model of coordinated regulation of type I and V collagen genes.

    Evidence promoter-reporter assays, EMSA with competition/supershift, CBF-B overexpression

    PMID:15246108

    Open questions at the time
    • single lab
    • in vivo relevance of CBF binding not tested
  9. 2006 High

    Dissected how haploinsufficiency produces two distinct fibril subpopulations, establishing collagen V's role in regulating both nucleation and growth.

    Evidence targeted gene inactivation in mice, immunoelectron microscopy, tensile and skin extensibility testing

    PMID:16492673

    Open questions at the time
    • molecular basis of unregulated type I sequestration in collagen-V-deficient fibrils not resolved
  10. 2009 Medium

    Showed signal-peptide mutations block ER translocation, adding a secretion-failure mechanism that reduces matrix collagen V.

    Evidence patient fibroblasts, immunofluorescence for intracellular retention, collagen electrophoresis

    PMID:18972565

    Open questions at the time
    • single lab, two mutations
    • fate of retained protein (degradation vs ER stress) unaddressed
  11. 2010 High

    Identified Sp7/Osterix as a cell-type-specific activator of Col5a1 in osteoblasts, explaining tissue-restricted regulation.

    Evidence promoter-reporter assays, Sp1-site mutagenesis, Sp7 overexpression and siRNA knockdown, osteoblast differentiation model

    PMID:20888414

    Open questions at the time
    • interplay between Sp7 and Sp1/CBF at the same site not resolved
    • in vivo osteoblast requirement not tested
  12. 2011 High

    Established conditional Col5a1 deletion in cornea as causing dominant fibrillogenesis failure, and defined 3'-UTR allelic variants and a miR-608 site controlling mRNA stability.

    Evidence corneal conditional knockout with EM; luciferase reporter assays of 3'-UTR allele variants and deletion constructs

    PMID:21609763 PMID:22159420

    Open questions at the time
    • miR-608 functional repression in cells not directly tested
    • tissue specificity of 3'-UTR allelic effect unknown
  13. 2018 High

    Validated miR-29b as a direct post-transcriptional repressor of Col5a1, adding a defined miRNA layer to expression control.

    Evidence 3'-UTR luciferase reporter with binding-site mutants, miR-29b overexpression, RNAi and CRISPR/Cas9 knockout, RT-PCR and Western blot

    PMID:28829698

    Open questions at the time
    • physiological context where miR-29b regulates Col5a1 in tissue not defined
  14. 2022 Medium

    Linked collagen V haploinsufficiency to dysregulated matrix-to-cell TGF-β/Smad signaling as a downstream pathogenic axis in EDS skin and tendon.

    Evidence skin/tendon transcriptomics, serum TGF-β1 ELISA, pSmad2 IHC in Col5a1+/- mice

    PMID:34740257

    Open questions at the time
    • causality of TGF-β activation in scarring not tested by intervention
    • single lab
  15. 2024 Medium

    Extended COL5A1 biology beyond matrix structure, showing it stabilizes TGM2 against ubiquitin-mediated degradation and participates in a TGF-β/Smad3 feedback loop driving chemoresistance in breast cancer.

    Evidence Co-immunoprecipitation, ubiquitination assay, in vitro/in vivo functional assays, cytokine profiling

    PMID:38609499

    Open questions at the time
    • interaction domain and direct vs indirect binding not mapped
    • relevance of intracellular COL5A1 functions to connective tissue biology unclear
    • single lab

Open questions

Synthesis pass · forward-looking unresolved questions
  • How collagen V dose is mechanistically transduced into fibril number control, and how matrix-derived TGF-β dysregulation feeds back on connective tissue and disease phenotypes, remain unresolved.
  • molecular link between type V/I ratio and fibril nucleation rate not defined
  • whether TGF-β activation is cause or consequence of matrix disorganization untested by rescue
  • genotype-phenotype determinants of EDS severity unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3
Localization
GO:0031012 extracellular matrix 3 GO:0005576 extracellular region 2 GO:0005783 endoplasmic reticulum 1
Pathway
R-HSA-1474244 Extracellular matrix organization 4 R-HSA-162582 Signal Transduction 3 R-HSA-1643685 Disease 3
Partners
COL1A1ITGA2TGM2
Complex memberships
type I/V heterotypic collagen fibriltype V collagen heterotrimer

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2011 Conditional knockout of Col5a1 in corneal stroma (using Kera-Cre) results in severely increased and heterogeneous fibril diameters, abnormal fibril structure, decreased fibril number, disorganized lamellae, decreased stroma thickness, and corneal opacity, demonstrating that collagen V is a dominant regulator of collagen fibrillogenesis and matrix assembly during tissue development. Conditional knockout mouse model (Cre-loxP), electron microscopy, corneal haze quantification Journal of cell science High 22159420
2006 Col5a1 heterozygous mice (haploinsufficient, 50% reduction in collagen V) exhibit two fibril subpopulations: relatively normal fibrils with periodic collagen V immunoreactivity (where type I/V interactions regulate nucleation) and abnormal fibrils lacking collagen V formed by unregulated type I collagen sequestration. This disrupts normal linear and lateral fibril growth via fusion, revealing that collagen V regulates fibril nucleation and growth. Targeted gene inactivation in mice, immunoelectron microscopy, tensile strength testing, skin extensibility measurement The Journal of biological chemistry High 16492673
1997 A missense mutation substituting the most 5' cysteine in the COL5A1 C-propeptide domain prevents incorporation of mutant pro-α1(V) chains into collagen V trimers, reducing collagen V levels and causing EDS type I. Additionally, splice-site mutations in COL5A1 were identified in EDS I and II patients, confirming COL5A1 haploinsufficiency as a causal mechanism. Mutation analysis, fibroblast collagen biochemistry, segregation analysis in a four-generation family American journal of human genetics High 9042913
2000 In eight of 28 classical EDS probands, one COL5A1 allele was completely or nearly completely absent from mRNA due to nonsense-mediated mRNA decay caused by small insertions/deletions or splice-site mutations, establishing COL5A1 haploinsufficiency as a common (~one-third of cases) molecular mechanism in classical EDS. RT-PCR allele expression analysis, cycloheximide treatment to block nonsense-mediated decay, heteroduplex analysis, genomic sequencing American journal of human genetics High 10777716 10796876
2004 COL5A1-mutant fibroblasts from EDS type I patients fail to organize collagens and fibronectin in the ECM, downregulate α2β1 integrin, and recruit αvβ3 instead of α5β1 integrin. Treatment with purified collagen V (but not fibronectin) restores the control phenotype, and blocking α2β1 integrin in control fibroblasts recapitulates the EDS phenotype, demonstrating that collagen V controls α2β1 integrin organization which in turn regulates fibronectin integrin receptor recruitment. EDS patient-derived fibroblasts, purified collagen V rescue experiment, function-blocking antibodies, immunofluorescence, ECM organization assays The Journal of biological chemistry High 14970208
2004 COL5A1 haploinsufficient EDS fibroblasts deposit less than half the hydroxyproline of controls and assemble significantly fewer collagen fibrils despite near-normal total collagen synthesis rates, and fibril diameter is inversely proportional to type V/type I collagen ratio. This demonstrates that the quantity of fibrils deposited is highly sensitive to type V collagen reduction, far out of proportion to its contribution to collagen mass. Long-term dermal fibroblast cultures, hydroxyproline assay, electron microscopy of fibril morphology, comparison with OI (COL1A1 haploinsufficient) cells Journal of cellular biochemistry High 15095409
2001 A COL5A1 exon 14 splice acceptor mutation (A(-2)→G) creates a cryptic acceptor site that causes a +1 frameshift leading to a premature stop codon in exon 17; the mutant transcript undergoes nonsense-mediated mRNA decay (only 8% of normal level in untreated fibroblasts, equimolar in cycloheximide-treated cells), yielding α1(V) haploinsufficiency and heterogeneous dermal collagen fibril diameters including 'cauliflower' fibrils. RT-PCR, RNase protection, cycloheximide treatment, transmission electron microscopy of dermal biopsy The Journal of biological chemistry High 11278977
2009 Missense mutations (p.L25R and p.L25P) in the signal peptide hydrophobic core of pre-pro-α1(V) collagen prevent translocation of the mutant protein into the endoplasmic reticulum, causing intracellular retention and reduced collagen V in the ECM, demonstrating that signal peptide integrity is required for proper secretion and fibrillogenesis. Patient-derived fibroblast analysis, immunofluorescence for intracellular retention, collagen electrophoresis, mutation characterization Human mutation Medium 18972565
2002 A COL5A1 splice-acceptor mutation (IVS4-2A→G) causes complex splicing outcomes dependent on the order of intron removal: when intron 5 is removed rapidly, exons 5 and 6 are jointly skipped producing the major product; when intron 6 is removed first, only exon 5 is skipped; when intron 4 is removed last, cryptic exon 5 acceptors are used. The resulting mutant pro-α1(V) chains with abnormal N-propeptides are secreted, incorporated into ECM, and cause dramatic alterations in collagen fibril structure. RT-PCR characterization of splice products, genomic sequencing, intron removal order analysis, electron microscopy of fibril structure American journal of human genetics Medium 12145749
2011 Two major forms of the COL5A1 3'-UTR (C-allele and T-allele) differ in mRNA stability: the T-allele shows significantly higher luciferase reporter activity (90.6%) than the C-allele (69.0%), indicating greater mRNA stability; a functional miR-608 binding site was identified within the 3'-UTR; deletion constructs revealed additional elements regulating COL5A1 mRNA stability. Luciferase reporter assay with cloned 3'-UTR variants, deletion constructs, sequence analysis Matrix biology Medium 21609763
2004 TGF-β1 upregulates COL5A1 expression during the proliferation and differentiation phases of osteoblast development in MC3T3-E1 cells, and COL5A1 mRNA is expressed in developing mouse bone at E17.5, establishing COL5A1 as a TGF-β target gene in osteoblasts. cDNA microarray, Northern blotting, RNA in situ hybridization, immunohistochemistry in mouse embryos Matrix biology Medium 15579311
2010 Sp7/Osterix transcription factor binds to a Sp1-binding site in the Col5a1 core promoter and activates its transcription specifically in osteoblastic cells: overexpression of Sp7 increases Col5a1 promoter activity and endogenous mRNA; siRNA knockdown of Sp7 decreases both; mutation of the Sp1-binding site abolishes the effect; and Sp7 and Col5a1 expression co-increase during osteoblast differentiation. Promoter-reporter transfection assays, mutagenesis of Sp1 binding site, siRNA knockdown, overexpression, osteoblast differentiation model Matrix biology High 20888414
2004 The Col5a1 core promoter lacks a TATA motif and has high GC content; three nuclear factor binding sites were identified: BS1 binds Sp1, BS2 binds CBF (at a CAAAT motif), and BS3 binds an Sp1-related protein. CBF activates the Col5a1 promoter and overexpression of CBF-B subunit modulates this activity, suggesting coordinated regulation of type I and V collagen genes by CBF. Transient transfection promoter-reporter assays, electrophoretic mobility shift assay (EMSA), oligonucleotide competition and supershift assays, CBF-B overexpression Matrix biology Medium 15246108
1995 The COL5A1 promoter lacks TATA and CAAT boxes, has multiple transcription start sites, high GC content, lies within a CpG island, and contains multiple Sp1 binding sites. Stepwise deletion analysis shows gradual decrease in promoter activity, indicating an array of cis-acting elements; gel mobility shift assays confirm Sp1 binding at multiple sites within the minimal promoter. 5' deletion reporter assays, gel mobility shift assay (EMSA), S1 nuclease mapping, multiple transcription start site mapping The Biochemical journal Medium 7646438
1996 A translocation breakpoint within COL5A1 intron 24 produces a fusion mRNA between COL5A1 and an Alu sequence but no aberrant protein; instead, type V collagen is reduced in patient fibroblasts, demonstrating haploinsufficiency as the mechanism causing EDS type I. Chromosomal translocation mapping, RT-PCR fusion transcript analysis, fibroblast collagen biochemistry Nature genetics Medium 8673139
2018 miR-29b directly binds to the 3'-UTR of Col5a1 and represses its expression at the mRNA and protein levels; miR-29b overexpression decreases Col5a1 luciferase reporter activity, endogenous mRNA, and protein; CRISPR/Cas9 knockout or RNAi knockdown of miR-29b increases Col5a1 expression, establishing miR-29b as a post-transcriptional repressor of Col5a1. Luciferase reporter assay with 3'-UTR constructs and binding-site mutants, miRNA overexpression, RNAi knockdown, CRISPR/Cas9 knockout, RT-PCR, Western blotting Connective tissue research High 28829698
2022 Col5a1 haploinsufficient mice show dysregulation of ECM components including thrombospondin-1, lysyl oxidase, and lumican in skin, and upregulation of TGF-β1 in serum with increased pSmad2 in skin, suggesting that altered matrix-to-cell TGF-β signaling contributes to abnormal wound healing and atrophic scarring in classic EDS. Transcriptome analysis of skin and Achilles tendons, serum TGF-β1 ELISA, pSmad2 immunohistochemistry in Col5a1+/- mice Human molecular genetics Medium 34740257
2021 Col5a1 knockout rats (CRISPR/Cas9) show fracture of elastic fibers and disarray of collagenous fibers by electron microscopy at 6 weeks. After β-aminopropionitrile and angiotensin II treatment to induce aortic dissection, Col5a1 knockout rats have significantly higher aortic dissection incidence than wild-type (93.3% vs 0%), and the TGF-β signaling pathway is significantly activated in Col5a1 knockout rats. CRISPR/Cas9 Col5a1 knockout rats, electron microscopy, aortic dissection induction model, TGF-β pathway analysis Journal of the American Heart Association Medium 34041919
1996 A 4 bp deletion at positions +3 to +6 of COL5A1 intron 65 removes exon 65 from processed mRNAs; since exon 65 encodes 78 residues of the carboxyl propeptide, the mutation reduces efficiency of incorporating mutant pro-α1(V) chains into type V collagen trimers and reduces total type V collagen synthesis, causing EDS type I. Linkage analysis, genomic sequencing identifying splice-site deletion, mRNA analysis by RT-PCR Human molecular genetics Medium 8923000
2024 COL5A1 interacts with TGM2 and inhibits its K48-linked ubiquitination-mediated degradation, thereby stabilizing TGM2 and enhancing chemoresistance and IL-6 secretion in triple-negative breast cancer cells. Additionally, TGF-β from M2 macrophages drives COL5A1 expression through a TGFβ/Smad3/COL5A1 signaling pathway, establishing a feedback loop. Co-immunoprecipitation, ubiquitination assay, in vitro and in vivo functional assays, cytokine profiling Oncogene Medium 38609499

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2006 The COL5A1 gene and Achilles tendon pathology. Scandinavian journal of medicine & science in sports 208 16430677
2009 The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants. The American journal of sports medicine 171 19654427
2011 Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model. Journal of cell science 153 22159420
2008 Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. British journal of sports medicine 135 18443036
2006 Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. The Journal of biological chemistry 135 16492673
1997 Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. American journal of human genetics 123 9042913
2008 Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene. British journal of sports medicine 119 19042922
2010 New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Human molecular genetics 112 20719862
1996 A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nature genetics 107 8673139
2000 Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). American journal of human genetics 98 10796876
2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet journal of rare diseases 97 23587214
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
2000 COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. American journal of human genetics 94 10777716
2002 Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. American journal of human genetics 90 12145749
2020 LncRNA HOTAIR promotes the growth and metastasis of gastric cancer by sponging miR-1277-5p and upregulating COL5A1. Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 77 32583079
1996 A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). Human molecular genetics 76 8923000
1996 An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. Journal of medical genetics 75 8950675
2019 CircACAP2 promotes breast cancer proliferation and metastasis by targeting miR-29a/b-3p-COL5A1 axis. Life sciences 73 31863774
2011 Sequence variants within the 3'-UTR of the COL5A1 gene alters mRNA stability: implications for musculoskeletal soft tissue injuries. Matrix biology : journal of the International Society for Matrix Biology 70 21609763
1998 A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. American journal of human genetics 70 9683580
2013 Polymorphisms within the COL5A1 3'-UTR that alters mRNA structure and the MIR608 gene are associated with Achilles tendinopathy. Annals of human genetics 69 23347277
2018 COL5A1 may contribute the metastasis of lung adenocarcinoma. Gene 67 29702185
2013 Genetic association of COL5A1 variants in keratoconus patients suggests a complex connection between corneal thinning and keratoconus. Investigative ophthalmology & visual science 64 23513063
2004 Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome. Journal of cellular biochemistry 61 15095409
2004 Collagen, type V, alpha1 (COL5A1) is regulated by TGF-beta in osteoblasts. Matrix biology : journal of the International Society for Matrix Biology 51 15579311
2009 COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. Human mutation 49 18972565
2010 Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. American journal of medical genetics. Part A 46 20635400
1996 The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. The Journal of investigative dermatology 46 8752669
2021 Overexpressed COL5A1 is correlated with tumor progression, paclitaxel resistance, and tumor-infiltrating immune cells in ovarian cancer. Journal of cellular physiology 45 33655494
2015 Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. American journal of medical genetics. Part A 45 25845371
2012 Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness. Human genetics 45 22814818
2006 A comprehensive study of the spatial and temporal expression of the col5a1 gene in mouse embryos: a clue for understanding collagen V function in developing connective tissues. Cell and tissue research 45 17024418
2009 The COL5A1 genotype is associated with range of motion measurements. Scandinavian journal of medicine & science in sports 44 19422640
1995 Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes. Genomics 43 8575750
2011 The COL5A1 gene: a novel marker of endurance running performance. Medicine and science in sports and exercise 42 20798666
2020 A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. Arteriosclerosis, thrombosis, and vascular biology 41 32938213
2011 The COL5A1 gene, ultra-marathon running performance, and range of motion. International journal of sports physiology and performance 41 21934170
2018 Interactions between COL5A1 Gene and Risk of the Anterior Cruciate Ligament Rupture. Journal of human kinetics 38 29922378
1995 COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. Genomics 38 7759113
1995 Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). Human molecular genetics 37 8541855
2011 Range of motion measurements diverge with increasing age for COL5A1 genotypes. Scandinavian journal of medicine & science in sports 35 21362053
1992 Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome. Genomics 35 1572660
2021 miR-29a-3p-dependent COL3A1 and COL5A1 expression reduction assists sulforaphane to inhibit gastric cancer progression. Biochemical pharmacology 34 33819468
2009 Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene. Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA 33 19956930
2002 Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. American journal of medical genetics 32 11992482
1999 Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections. Stroke 32 10471441
2014 Genetic associations of body composition, flexibility and injury risk with ACE, ACTN3 and COL5A1 polymorphisms in Korean ballerinas. Journal of exercise nutrition & biochemistry 31 25566457
2016 Polymorphisms within the COL5A1 gene and regulators of the extracellular matrix modify the risk of Achilles tendon pathology in a British case-control study. Journal of sports sciences 30 27541197
2015 The Variants Within the COL5A1 Gene are Associated with Reduced Risk of Anterior Cruciate Ligament Injury in Skiers. Journal of human kinetics 29 25964814
2010 Sp7/Osterix is involved in the up-regulation of the mouse pro-α1(V) collagen gene (Col5a1) in osteoblastic cells. Matrix biology : journal of the International Society for Matrix Biology 29 20888414
2000 Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? American journal of medical genetics 29 10602121
2015 The BstUI and DpnII Variants of the COL5A1 Gene Are Associated With Tennis Elbow. The American journal of sports medicine 28 25896984
2011 A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. PloS one 28 21611149
2001 COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II. The Journal of biological chemistry 28 11278977
2019 Prospective molecular mechanism of COL5A1 in breast cancer based on a microarray, RNA sequencing and immunohistochemistry. Oncology reports 25 31059074
2015 Influence of the COL5A1 rs12722 on musculoskeletal injuries in professional soccer players. The Journal of sports medicine and physical fitness 25 25583227
2024 COL5A1 promotes triple-negative breast cancer progression by activating tumor cell-macrophage crosstalk. Oncogene 22 38609499
2019 Differential clinical significance of COL5A1 and COL5A2 in tongue squamous cell carcinoma. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 21 30972812
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
2020 Correlations Between the Genetic Variations in the COL1A1, COL5A1, COL12A1, and β-fibrinogen Genes and Anterior Cruciate Ligament Injury in Chinese Patientsa. Journal of athletic training 20 32239963
2019 COL5A1 rs12722 polymorphism is not associated with passive muscle stiffness and sports-related muscle injury in Japanese athletes. BMC medical genetics 20 31791263
2018 Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study. BMC medical genetics 20 30572822
2014 The COL5A1 gene is associated with increased risk of carpal tunnel syndrome. Clinical rheumatology 20 24966028
2019 Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome. Genes 18 31546637
2017 Association between polymorphism rs12722 in COL5A1 and musculoskeletal soft tissue injuries: a systematic review and meta-analysis. Oncotarget 18 29632650
2022 Genetic Variants within NOGGIN, COL1A1, COL5A1, and IGF2 are Associated with Musculoskeletal Injuries in Elite Male Australian Football League Players: A Preliminary Study. Sports medicine - open 17 36219268
2020 An allele of rs619586 polymorphism in MALAT1 alters the invasiveness of meningioma via modulating the expression of collagen type V alpha (COL5A1). Journal of cellular and molecular medicine 16 32720739
2013 A polymorphism in a functional region of the COL5A1 gene: association with ultraendurance-running performance and joint range of motion. International journal of sports physiology and performance 16 24085259
2022 MiR-29b-3p Inhibits Migration and Invasion of Papillary Thyroid Carcinoma by Downregulating COL1A1 and COL5A1. Frontiers in oncology 15 35530352
2021 RUNX1/miR-582-5p Pathway Regulates the Tumor Progression in Clear Cell Renal Cell Carcinoma by Targeting COL5A1. Frontiers in oncology 15 33937021
2021 COL5A1 Variants Cause Aortic Dissection by Activating TGF-β-Signaling Pathway. Journal of the American Heart Association 15 34041919
2018 Can Genetics Predict Sports Injury? The Association of the Genes GDF5, AMPD1, COL5A1 and IGF2 on Soccer Player Injury Occurrence. Sports (Basel, Switzerland) 15 29910325
2017 COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby. BMC genomics 15 29143592
1992 Mapping of the human COL5A1 gene to chromosome 9q34.3. Human genetics 15 1427773
2022 COL5A1 Promotes the Progression of Gastric Cancer by Acting as a ceRNA of miR-137-3p to Upregulate FSTL1 Expression. Cancers 14 35805015
2013 Polymorphisms in TNC and COL5A1 genes are associated with risk of superficial digital flexor tendinopathy in National Hunt Thoroughbred racehorses. Equine veterinary journal 14 23906005
1994 Genetic linkage analysis of the Ak1, Col5a1, Epb7.2, Fpgs, Grp78, Pbx3, and Notch1 genes in the region of mouse chromosome 2 homologous to human chromosome 9q. Genomics 14 8088777
2021 Interactions between Gene Variants within the COL1A1 and COL5A1 Genes and Musculoskeletal Injuries in Physically Active Caucasian. Genes 13 34356072
2021 Genetic variants within the COL5A1 gene are associated with ligament injuries in physically active populations from Australia, South Africa, and Japan. European journal of sport science 13 34821541
2018 Association of COL5A1 gene polymorphisms and risk of tendon-ligament injuries among Caucasians: a meta-analysis. Sports medicine - open 13 30350114
2004 Identification of a functional CBF-binding CCAAT-like motif in the core promoter of the mouse pro-alpha 1(V) collagen gene (Col5a1). Matrix biology : journal of the International Society for Matrix Biology 13 15246108
1995 Transcriptional promoter of the human alpha 1(V) collagen gene (COL5A1). The Biochemical journal 13 7646438
2019 Effect of COL5A1, GDF5, and PPARA Genes on a Movement Screen and Neuromuscular Performance in Adolescent Team Sport Athletes. Journal of strength and conditioning research 12 30985523
2018 A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome. Animal genetics 12 30246406
1997 Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes. Clinical and experimental dermatology 12 9499606
2022 NOX2-Induced High Glycolytic Activity Contributes to the Gain of COL5A1-Mediated Mesenchymal Phenotype in GBM. Cancers 11 35158782
2014 Human COL5A1 rs12722 gene polymorphism and tendon properties in vivo in an asymptomatic population. European journal of applied physiology 11 24643429
2014 Is the COL5A1 rs12722 gene polymorphism associated with running economy? PloS one 11 25188268
2021 COL5A1 RS12722 Is Associated with Temporomandibular Joint Anterior Disc Displacement without Reduction in Polish Caucasians. Cells 10 34572072
2019 Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1. Bioscience reports 10 31239369
2022 Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome. Human molecular genetics 9 34740257
2022 Association of COL5A1 gene polymorphisms and musculoskeletal soft tissue injuries: a meta-analysis based on 21 observational studies. Journal of orthopaedic surgery and research 9 35241120
2022 Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome. Genes 9 35627182
2019 A Novel Splice-Site Variation in COL5A1 Causes Keratoconus in an Indian Family. Journal of ophthalmology 9 31772763
1998 cDNA sequence and expression of the mouse alpha1(V) collagen gene (Col5a1). Biochimica et biophysica acta 9 9582436
2019 Coil embolization of bilateral internal mammary artery aneurysms in the setting of a heterozygous missense variant of unknown significance in COL5A1 and fibromuscular dysplasia. Journal of vascular surgery cases and innovative techniques 8 31660461
2018 The pro-α1(V) collagen gene (Col5a1) is coordinately regulated by miR-29b with core promoter in cultured cells. Connective tissue research 8 28829698
2015 The COL5A1 genotype is associated with range of motion. Journal of exercise nutrition & biochemistry 8 26244122
1993 Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus? Human genetics 8 8462976
2016 Human COL5A1 polymorphisms and quadriceps muscle-tendon mechanical stiffness in vivo. Experimental physiology 7 27717059

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