Affinage

COL1A1

Collagen alpha-1(I) chain · UniProt P02452

Length
1464 aa
Mass
138.9 kDa
Annotated
2026-06-09
100 papers in source corpus 26 papers cited in narrative 26 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

COL1A1 encodes the alpha-1 chain of type I collagen, a secreted extracellular matrix protein whose expression is tightly controlled at transcriptional, post-transcriptional, and epitranscriptomic levels and whose deposition organizes tissue architecture and drives cell motility programs (PMID:11514536, PMID:32589888, PMID:35750880). Its transcription is positively regulated by the ubiquitous factor YY1, which binds two core sites immediately adjacent to the TATA box and is required for constitutive promoter activity in fibroblasts (PMID:11514536), and by the homeobox factor Dlx5 acting through a 2.3 kb promoter element in an osteoblast-differentiation context (PMID:11471195); as little as 476 bp of promoter is sufficient for tissue-specific expression in vivo, with the 2.3-3.6 kb promoter region marking committed osteoblasts locked to the bone lineage (PMID:7721894, PMID:11450698, PMID:24513582). Expression is further tuned post-transcriptionally by multiple 3'-UTR-targeting miRNAs (miR-29b-3p, miR-129-5p, miR-133a-3p, miR-513b-5p) (PMID:28482162, PMID:28569392, PMID:29091295, PMID:34290266) and by FTO-mediated m6A demethylation that stabilizes COL1A1 mRNA to promote fibrosis (PMID:36760238). COL1A1 expression is also driven downstream of RUNX2 and of CXCL9-CXCR3 and MMP2-integrin alphaV signaling axes in cancer and fibrosis (PMID:33896817, PMID:36708947, PMID:38123132). Once secreted, COL1A1 signals through integrin beta1/AKT to promote tumor cell migration and invasion (PMID:32589888) and organizes oncostream fascicles that drive mesenchymal transformation in glioblastoma (PMID:35750880). Disease arises from defective COL1A1 mRNA handling: premature-stop and splice-defective transcripts are retained in the nucleus within the SC-35 domain and fail to export, producing the null-allele phenotype of osteogenesis imperfecta type I (PMID:10931857, PMID:8613526), and frameshift mutations yielding unstable mRNA and half-normal procollagen alter dentin collagen fibril nanostructure (PMID:26694865). In dermatofibrosarcoma protuberans, a COL1A1-PDGFB chromosomal fusion produces a chimeric transcript processed into functional PDGFB ligand that drives autocrine PDGFRB signaling (PMID:17431412, PMID:9790508).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 1995 High

    Established the minimal cis-regulatory information needed for tissue-specific collagen expression, defining the promoter boundaries that control where COL1A1 is made.

    Evidence Transgenic mice with mini-COL1A1 and hybrid constructs assayed at mRNA and protein level

    PMID:7721894

    Open questions at the time
    • Did not identify the specific trans-acting factors binding the 476 bp element
    • Intron/3'-UTR contributions to quantitative output not resolved
  2. 1996 High

    Explained why COL1A1 null alleles cause OI type I by showing premature-stop transcripts are retained in the nucleus and excluded from the cytoplasm.

    Evidence Nuclear/cytoplasmic RNA fractionation with allele-specific RT-PCR/SSCP in OI patient fibroblasts

    PMID:8613526

    Open questions at the time
    • Molecular machinery enforcing retention not identified
    • Did not localize retained RNA to a specific nuclear subcompartment
  3. 2000 High

    Refined the retention mechanism by localizing aberrant transcripts to the SC-35 nuclear domain, identifying retention within this domain as a discrete export checkpoint.

    Evidence FISH of nuclear RNA tracks with quantitative microfluorimetry comparing OI vs control fibroblasts

    PMID:10931857

    Open questions at the time
    • Factors coupling splicing fidelity to SC-35 exit unknown
    • Generalizability to other genes/mutations not tested
  4. 2001 High

    Identified YY1 as a required positive transcriptional regulator of constitutive COL1A1 expression acting at sites adjacent to the TATA box.

    Evidence EMSA, supershift, site-directed mutagenesis, luciferase reporters, overexpression/antisense in fibroblasts

    PMID:11514536

    Open questions at the time
    • Co-regulators recruited by YY1 not defined
    • Interplay with tissue-specific factors not addressed
  5. 2001 High

    Defined how promoter fragments report osteoblast differentiation state and linked the homeobox factor Dlx5 to COL1A1 induction during osteoblast maturation.

    Evidence Transgenic reporter mice with 2.3/3.6 kb fragments and Dlx5 retroviral transduction of periosteal cells

    PMID:11450698 PMID:11471195

    Open questions at the time
    • Direct Dlx5 binding site in the promoter not mapped (Medium-confidence Dlx5 study)
    • Hierarchy of differentiation-stage regulators not fully resolved
  6. 2007 Medium

    Showed the DFSP COL1A1-PDGFB fusion generates a functional PDGFB ligand, converting a structural gene's promoter into a driver of autocrine PDGFRB growth signaling.

    Evidence RT-PCR fusion detection and quantitative PDGFB/PDGFRB expression in 57 DFSP samples; recurrent fusion confirmed by FISH/Southern in earlier work

    PMID:17431412 PMID:9790508

    Open questions at the time
    • PDGFB ligand activity inferred from expression correlation, not direct biochemical reconstitution
    • Contribution of specific COL1A1 fusion exons to processing not dissected
  7. 2018 Medium

    Established 3'-UTR-targeting miRNAs as a recurrent post-transcriptional brake on COL1A1, with loss of these miRNAs driving fibrosis and cancer cell motility.

    Evidence Dual luciferase 3'-UTR assays plus mimic/inhibitor rescue across fibroblasts and multiple cancer cell types (miR-29b-3p, miR-129-5p, miR-133a-3p, miR-513b-5p)

    PMID:28482162 PMID:28569392 PMID:29091295 PMID:34290266

    Open questions at the time
    • Relative contribution of each miRNA in vivo not quantified
    • Whether these miRNAs co-regulate COL1A1 in the same tissue context unknown
  8. 2020 Medium

    Defined a receptor-level mechanism for secreted COL1A1, showing it binds integrin beta1 to activate AKT and promote tumor cell migration and invasion.

    Evidence Ascites proteomics, integrin beta1 binding/Co-IP, siRNA and antibody blockade, phospho-AKT blots, xenograft in ovarian cancer

    PMID:32589888

    Open questions at the time
    • Direct collagen-integrin binding interface not structurally defined
    • Single-lab finding without reciprocal receptor validation
  9. 2022 High

    Revealed a tissue-architecture role in cancer whereby COL1A1 organizes oncostream fascicles that enforce a mesenchymal phenotype and tumor aggressiveness.

    Evidence Intravital and explant imaging, spatial transcriptomics, Col1a1 knockdown and survival analysis in mouse glioma models

    PMID:35750880

    Open questions at the time
    • Molecular signal coupling collagen organization to mesenchymal reprogramming not pinpointed
    • Receptor mediating oncostream formation not identified
  10. 2023 High

    Added epitranscriptomic and upstream-signaling layers of COL1A1 control: FTO-mediated m6A demethylation stabilizes its mRNA, while CXCL9-CXCR3 and MMP2-integrin alphaV axes drive its induction in fibrosis and cancer.

    Evidence MeRIP-qPCR and m6A dot blot for FTO; Cxcl9/Cxcr3 knockout mice plus fibroblast stimulation; MMP2/integrin alphaV pathway manipulation in cholangiocarcinoma

    PMID:36708947 PMID:36760238 PMID:38123132

    Open questions at the time
    • Whether FTO and these signaling axes converge on the same transcripts unknown
    • m6A reader mediating destabilization not identified

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the multiple transcriptional, miRNA, and m6A inputs are integrated to set COL1A1 dosage in a given tissue, and which extracellular receptors mediate its diverse motility and lineage effects, remains unresolved.
  • No unified model linking regulatory inputs to output dosage
  • Receptor specificity across cell types not mapped
  • Structural basis of collagen-integrin signaling undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0098631 cell adhesion mediator activity 1
Localization
GO:0031012 extracellular matrix 2 GO:0005576 extracellular region 1
Pathway
R-HSA-1643685 Disease 4 R-HSA-162582 Signal Transduction 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-8953854 Metabolism of RNA 3 R-HSA-1474244 Extracellular matrix organization 2
Partners
ITGAVITGB1PDGFBYY1

Evidence

Reading pass · 26 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 YY1 (Yin Yang 1) binds to the Col1a1 proximal promoter at two core binding sites (YY1A at -40/-37 bp and YY1B at -32/-29 bp, immediately adjacent to the TATA box) and functions as a required positive regulator of constitutive Col1a1 transcription in fibroblasts; mutation of either YY1 binding site abolished or reduced promoter activity, and cotransfection with YY1 increased activity up to 10-fold. Electrophoretic mobility shift assay (EMSA) with recombinant YY1 and nuclear extracts, supershift with YY1-specific antibody, site-directed mutagenesis of YY1 binding sites, Col1a1-luciferase reporter transfections, YY1 overexpression and antisense knockdown The Journal of biological chemistry High 11514536
2000 Normal COL1A1 pre-mRNA is spliced at or adjacent to the gene locus and transits through the SC-35 nuclear domain before export; splice-defective mutant transcripts (OI type I patient with intron 26 splicing defect) initiate transport from the gene and distribute through the SC-35 domain but accumulate abnormally within it and fail to exit, identifying retention within the SC-35 domain as a distinct step in mRNA export. Fluorescence in situ hybridization (FISH) of nuclear RNA tracks, microfluorimetric analysis of RNA accumulation, comparison of normal vs. OI patient fibroblasts The Journal of cell biology High 10931857
1996 COL1A1 transcripts carrying premature stop mutations (null alleles causing mild OI) are retained in the nuclear compartment and absent from the cytoplasm, whereas transcripts with expressed point mutations (Gly→Arg) are present in both compartments; nuclear retention is the mechanistic basis of the null allele phenotype in OI type I. RT-PCR and SSCP of nuclear vs. cytoplasmic RNA fractions from OI patient fibroblasts, allele-specific analysis of COL1A1 mRNA distribution The Journal of clinical investigation High 8613526
1995 Only 476 bp of the COL1A1 promoter are sufficient to drive tissue-specific expression of a collagen gene in transgenic mice; the first intron and 90% of the 3'-UTR are not essential for tissue-specific expression. Transgenic mice harboring mini-COL1A1 gene and hybrid COL1A1/COL2A1 constructs; expression assessed as mRNA and protein in tissues The Journal of biological chemistry High 7721894
2007 In dermatofibrosarcoma protuberans (DFSP), the COL1A1-PDGFB fusion transcript encodes a chimeric protein that is processed into a functional PDGFB ligand for PDGFRB, driving autocrine/paracrine PDGFRB stimulation and cell proliferation; various COL1A1 exons (especially exons 7 and 25) are fused in-frame with PDGFB. RT-PCR detection of fusion transcripts in 57 DFSP samples, real-time PCR quantification of PDGFB gene amplification and PDGFB/PDGFRB mRNA levels, correlation analysis Modern pathology Medium 17431412
1998 Both reciprocal t(17;22) translocations and supernumerary ring chromosomes in DFSP result in the same molecular fusion of COL1A1 (chr17) with PDGFB (chr22), demonstrated by Southern blotting, RT-PCR, and FISH even when cytogenetic analysis suggests absence of chr22 material. Fluorescence in situ hybridization (FISH), Southern blotting, RT-PCR Genes, chromosomes & cancer Medium 9790508
2020 COL1A1 secreted by fibroblasts promotes ovarian cancer cell migration and invasion by binding to membrane receptor integrin β1 (ITGB1) and activating downstream AKT phosphorylation; knockdown or antibody blockade of ITGB1 reversed COL1A1-enhanced migration and invasion. Quantitative proteomics of ascites, Co-IP/binding assay with integrin β1, siRNA knockdown of ITGB1, antibody blockade, phospho-AKT western blot, intraperitoneal xenograft mouse model Experimental cell research Medium 32589888
2022 In glioblastoma, COL1A1 overexpression is required for the formation and function of oncostreams (multicellular mesenchymal fascicles); inhibition of Col1a1 eliminates oncostreams, reprograms the mesenchymal transcriptional phenotype, alters the tumor microenvironment, and prolongs survival in mouse glioma models. Ex vivo explant imaging, in vivo intravital imaging, spatial transcriptomics, Col1a1 knockdown in genetically engineered mouse glioma models, survival analysis Nature communications High 35750880
2004 RNAi targeting an intragenic SNP within COL1A1 transcripts achieves allele-specific suppression, showing preferential knockdown of individual polymorphic COL1A1 alleles differing by a single nucleotide in Cos-7 cells and human mesenchymal progenitor stem cells. siRNA transfection into Cos-7 cells and human mesenchymal progenitor cells, allele-specific quantification of COL1A1 expression European journal of human genetics Medium 15241481
2001 The 2.3 kb Col1a1 promoter fragment drives expression specifically in committed, differentiated osteoblasts (bone-lining cells lacking chondrogenic potential), while the 3.6 kb fragment initiates activity earlier coincident with alkaline phosphatase expression; expression from the 2.3 kb fragment is determined by the differentiation state of osteoblastic cells. Transgenic mice with Col1a1 promoter fragments driving CAT or GFP reporters, primary MSC and calvarial osteoblast cultures, immunostaining, flow cytometry Journal of bone and mineral research High 11450698
2013 The 3.2 kb Col1a1 promoter targets committed osteoblasts (innermost periosteal layer, no chondrogenic potential), distinct from Prx1-expressing osteochondroprogenitor cells; Col1a1-expressing cells are locked to the osteoblast lineage. Col1a1CreER-DsRed and Prx1CreER-GFP double-transgenic mice, histological analysis, flow cytometry, chondrogenic differentiation assays Bone High 24513582
2001 The homeobox transcription factor Dlx5 induces expression from a 2.3 kb rat COL1A1 promoter, demonstrating that this promoter region contains Dlx5-responsive elements; induction is associated with osteoblastic differentiation. Retroviral transduction of Col1a1-GFP reporter into chick calvarial periosteal cells, infection with Dlx5-expressing retrovirus, fluorescence microscopy Croatian medical journal Medium 11471195
2012 Knockdown of Col1a1 in mouse spermatogonia suppresses self-renewal markers (Oct4, Plzf) and increases differentiation markers (c-kit, haprin), arrests cells in S phase, and impairs spermatogonial self-renewal in vivo; Col1a1 is required for maintaining spermatogonial stem cell self-renewal. siRNA knockdown in vitro, cell cycle analysis, in vivo DNA injection and electroporation into testes, immunostaining for self-renewal/differentiation markers Asian journal of andrology Medium 23064687
2023 The m6A demethylase FTO promotes keloid formation by removing m6A modification from COL1A1 mRNA, thereby increasing COL1A1 mRNA stability and upregulating COL1A1 protein expression; FTO overexpression promotes fibroblast migration and COL1A1/α-SMA expression. MeRIP-qPCR (methylated RNA immunoprecipitation), m6A dot blotting, RT-PCR, western blot, fibroblast migration assay, H&E staining of keloid tissue Annals of translational medicine Medium 36760238
2018 miR-129-5p directly targets the 3'-UTR of COL1A1 mRNA (validated by dual luciferase assay) and suppresses COL1A1 expression, thereby inhibiting gastric cancer cell proliferation, migration, and invasion; the miR-129-5p/COL1A1 axis is a functional tumor-suppressive pathway. Dual luciferase reporter assay, RT-qPCR, western blot, MTT/colony formation/wound healing/transwell assays, co-transfection rescue experiments Biochemistry and cell biology Medium 28482162
2017 miR-133a-3p directly targets and suppresses COL1A1 expression (validated by dual luciferase reporter assay), and this suppression inhibits OSCC cell proliferation, invasion, and mitosis; simultaneous downregulation of miR-133a-3p and upregulation of COL1A1 rescues cell activity. Dual luciferase reporter assay, western blot, CCK-8, colony formation, flow cytometry, transwell assay Journal of cellular biochemistry Medium 28569392
2018 miR-29b-3p directly targets COL1A1 and COL3A1 3'-UTRs (validated by dual luciferase assay) in fibroblasts, and miR-29b-3p mimic reduces COL1A1 expression, decreasing fibroblast collagen production and preventing Schistosoma japonicum-induced liver fibrosis. Dual luciferase reporter assay, RT-qPCR, western blot, immunofluorescence, in vivo mouse fibrosis model, immunohistochemistry Journal of cellular biochemistry Medium 29091295
2021 RUNX2 transcription factor promotes COL1A1 expression in gastric cancer cells; COL1A1 knockdown inhibits the increase in cell invasion and migration induced by RUNX2 overexpression both in vitro and in vivo (lung metastasis model), placing COL1A1 downstream of RUNX2 in a metastasis-promoting pathway. RUNX2 overexpression, COL1A1 knockdown, invasion/migration assays, western blot, RT-PCR, immunofluorescence, in vivo lung metastasis xenograft model Cancer biomarkers Medium 33896817
2023 CXCL9 acting through receptor CXCR3 induces Col1a1 mRNA expression in mouse fibroblasts; CXCL9- and CXCR3-deficient mice show reduced bleomycin-induced dermal fibrosis, establishing a CXCL9→CXCR3→Col1a1 axis in inflammatory fibrosis. REX3 reporter mice tracking CXCR3 ligand-producing cells, bleomycin fibrosis model in Cxcl9−/−, Cxcl10−/−, and Cxcr3−/− mice, recombinant CXCL9 treatment of cultured fibroblasts with Col1a1 mRNA measurement The Journal of investigative dermatology High 36708947
2023 MMP2 promotes COL1A1 upregulation in cholangiocarcinoma cells via the integrin alpha V pathway, which subsequently activates ECM remodelling, induces EMT, and increases PD-L1 expression through NF-κB pathway activation. Western blot, immunofluorescence, COL1A1 overexpression/knockdown, integrin αV pathway inhibition, EMT marker analysis, NF-κB pathway assay, in vitro migration/invasion, in vivo xenograft Annals of hepatology Medium 38123132
2021 miR-513b-5p directly targets COL1A1 and COL1A2 3'-UTRs (validated by dual luciferase assay) in human vascular smooth muscle cells; miR-513b-5p suppression of COL1A1/COL1A2 regulates the RIP1-RIP3-MLKL necroptosis pathway and MMP pathways, enhancing cell death and apoptosis; TNF-α modulates this axis. Dual luciferase reporter assay, RT-qPCR, miR-513b-5p mimic/inhibitor transfection, COL1A1/2 silencing and overexpression, proliferation/apoptosis/necroptosis assays, western blot for pathway proteins Scientific reports Medium 34290266
2016 Two frameshift insertion mutations in exon 5 of COL1A1 (c.440_441insT; c.441_442insA) result in unstable COL1A1 mRNA and half-normal procollagen production, causing increased D-periodic collagen fibril spacing, variably enlarged fibrils with fewer minerals, rougher dentin surface, and reduced Young's modulus in dentin. AFM, scanning electron microscopy, transmission electron microscopy, RT-PCR for mRNA stability, collagen production quantification in OI patient pedigree Anatomical record Medium 26694865
2018 COL1A1 knockdown in breast cancer cells inhibits metastasis with reduced CXCR4 expression, independently of the epithelial-mesenchymal transition (EMT) process. siRNA knockdown, wound healing assay, transwell assay, RT-PCR for EMT and CXCR4 markers Discovery medicine Low 29906404
2019 COL1A1 siRNA-mediated silencing in HCC cells suppresses clonogenicity, motility, invasiveness, and tumorsphere formation, and abrogates Slug-dependent EMT by attenuating stemness markers SOX2, OCT4, and CD133. siRNA knockdown, clonogenic assay, transwell invasion assay, tumorsphere formation, western blot for EMT and stemness markers Cancers Low 31181620
2018 COL1A1 promotes colorectal cancer cell migration via the WNT/planar cell polarity (PCP) signaling pathway; COL1A1 inhibition decreased levels of Rac1-GTP, phosphorylated JNK, and RhoA-GTP, key effectors of the WNT/PCP pathway. Transwell migration assay, siRNA knockdown, western blot/pull-down for Rac1-GTP and RhoA-GTP, phospho-JNK western blot Molecular medicine reports Low 29393423
2019 Col1a1 knockdown in bovine cumulus cells causes increased ROS, decreased mitochondrial membrane potential, increased intracellular autophagy, activation of the apoptotic pathway, cell cycle arrest, decreased cholesterol synthesis, and impaired lactic acid conversion, indicating Col1a1 is required for normal cumulus cell physiology. siRNA knockdown, flow cytometry (cell cycle, apoptosis, ROS), JC-1 mitochondrial membrane potential assay, immunofluorescence for autophagy, CCK-8 proliferation, RT-qPCR, western blot Theriogenology Medium 31377650

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2018 Collagen 1A1 (COL1A1) promotes metastasis of breast cancer and is a potential therapeutic target. Discovery medicine 192 29906404
2019 Collagen 1A1 (COL1A1) Is a Reliable Biomarker and Putative Therapeutic Target for Hepatocellular Carcinogenesis and Metastasis. Cancers 171 31181620
2000 Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain. The Journal of cell biology 126 10931857
2018 COL1A1 promotes metastasis in colorectal cancer by regulating the WNT/PCP pathway. Molecular medicine reports 124 29393423
2001 Col1a1-driven transgenic markers of osteoblast lineage progression. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 119 11450698
2017 MiR-129-5p suppresses gastric cancer cell invasion and proliferation by inhibiting COL1A1. Biochemistry and cell biology = Biochimie et biologie cellulaire 102 28482162
2017 MiR-133a-3p Inhibits Oral Squamous Cell Carcinoma (OSCC) Proliferation and Invasion by Suppressing COL1A1. Journal of cellular biochemistry 98 28569392
2023 Reviewing the Regulators of COL1A1. International journal of molecular sciences 89 37373151
2020 Circular RNA hsa_circRNA_002178 silencing retards breast cancer progression via microRNA-328-3p-mediated inhibition of COL1A1. Journal of cellular and molecular medicine 89 31957232
2022 COL1A1: A novel oncogenic gene and therapeutic target in malignancies. Pathology, research and practice 87 35816922
2022 Spatiotemporal analysis of glioma heterogeneity reveals COL1A1 as an actionable target to disrupt tumor progression. Nature communications 82 35750880
2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. Human mutation 81 16786509
2020 Microenvironment remodeled by tumor and stromal cells elevates fibroblast-derived COL1A1 and facilitates ovarian cancer metastasis. Experimental cell research 74 32589888
2017 Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. PloS one 68 28498836
2007 The COL1A1 gene and high myopia susceptibility in Japanese. Human genetics 68 17557158
2004 Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Human mutation 68 15241796
2013 Prx1 and 3.2kb Col1a1 promoters target distinct bone cell populations in transgenic mice. Bone 65 24513582
2018 MicroRNA-29b-3p prevents Schistosoma japonicum-induced liver fibrosis by targeting COL1A1 and COL3A1. Journal of cellular biochemistry 63 29091295
2017 COL1A1, PRPF40A, and UCP2 correlate with hypoxia markers in non-small cell lung cancer. Journal of cancer research and clinical oncology 57 28258342
2007 Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 56 17431412
2005 Expression of Col1a1, Col1a2 and procollagen I in germ cells of immature and adult mouse testis. Reproduction (Cambridge, England) 55 16123240
2006 COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 51 17021946
2018 Identification of COL1A1 as an invasion‑related gene in malignant astrocytoma. International journal of oncology 49 30272346
2010 Polymorphisms in the 5' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 46 20798928
2009 The COL1A1 gene and acute soft tissue ruptures. British journal of sports medicine 45 19193665
2009 COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Investigative ophthalmology & visual science 45 19387081
1996 Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. The Journal of clinical investigation 42 8613526
2017 Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. Human genomics 40 28810924
2016 Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. Human genomics 40 27519266
2004 RNAi of COL1A1 in mesenchymal progenitor cells. European journal of human genetics : EJHG 40 15241481
2021 Targeting lncRNA H19/miR-29b/COL1A1 Axis Impedes Myofibroblast Activities of Precancerous Oral Submucous Fibrosis. International journal of molecular sciences 38 33672311
2020 circKRT7-miR-29a-3p-COL1A1 Axis Promotes Ovarian Cancer Cell Progression. OncoTargets and therapy 38 32982288
2001 YY1 is a positive regulator of transcription of the Col1a1 gene. The Journal of biological chemistry 38 11514536
2019 COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients. Frontiers in genetics 37 31447884
2018 Downregulation of MiR-196b-5p impedes cell proliferation and metastasis in breast cancer through regulating COL1A1. American journal of translational research 36 30416655
2014 BMP-2, hypoxia, and COL1A1/HtrA1 siRNAs favor neo-cartilage hyaline matrix formation in chondrocytes. Tissue engineering. Part C, Methods 35 24957638
2001 Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta. Archives of oral biology 34 11286811
2019 LncRNA COL1A1-014 is involved in the progression of gastric cancer via regulating CXCL12-CXCR4 axis. Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 32 31650323
1995 Tissue-specific expression of the gene for type I procollagen (COL1A1) in transgenic mice. Only 476 base pairs of the promoter are required if collagen genes are used as reporters. The Journal of biological chemistry 32 7721894
2023 Collagen 1A1 (COL1A1) and Collagen11A1(COL11A1) as diagnostic biomarkers in Breast, colorectal and gastric cancers. Gene 30 37783295
1999 Alterations in the regulation of expression of the alpha 1(I) collagen gene (COL1A1) in systemic sclerosis (scleroderma). Springer seminars in immunopathology 30 10945033
2022 Bisphenol S promotes the progression of prostate cancer by regulating the expression of COL1A1 and COL1A2. Toxicology 28 35405288
2022 Aptamer-conjugated nanoliposomes containing COL1A1 siRNA sensitize CRC cells to conventional chemotherapeutic drugs. Colloids and surfaces. B, Biointerfaces 28 35905589
2021 RUNX2 promotes malignant progression in gastric cancer by regulating COL1A1. Cancer biomarkers : section A of Disease markers 28 33896817
2005 Influence of IL-6, COL1A1, and VDR gene polymorphisms on bone mineral density in Crohn's disease. Gut 28 16009674
1998 COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma protuberans. Genes, chromosomes & cancer 27 9790508
2020 Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta. Orphanet journal of rare diseases 26 32234057
2014 Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. American journal of medical genetics. Part A 26 24668929
2024 The translational potential of miR-26 in atherosclerosis and development of agents for its target genes ACC1/2, COL1A1, CPT1A, FBP1, DGAT2, and SMAD7. Cardiovascular diabetology 25 38195542
2022 Roles of H19/miR-29a-3p/COL1A1 axis in COE-induced lung cancer. Environmental pollution (Barking, Essex : 1987) 25 36150622
2002 Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. The Annals of otology, rhinology, and laryngology 25 11860074
2019 COL1A1 affects apoptosis by regulating oxidative stress and autophagy in bovine cumulus cells. Theriogenology 24 31377650
2022 Radiation increases COL1A1, COL3A1, and COL1A2 expression in breast cancer. Open medicine (Warsaw, Poland) 23 35274048
2021 COL1A1 as a potential new biomarker and therapeutic target for type 2 diabetes. Pharmacological research 23 33497804
2013 Variations of the COL1A1 gene promoter and the relation to developmental dysplasia of the hip. Genetic testing and molecular biomarkers 23 23941072
2021 MicroRNA-513b-5p targets COL1A1 and COL1A2 associated with the formation and rupture of intracranial aneurysm. Scientific reports 22 34290266
2020 Genipin inhibits the scleral expression of miR-29 and MMP2 and promotes COL1A1 expression in myopic eyes of guinea pigs. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 21 32125507
2023 CXCL9 Links Skin Inflammation and Fibrosis through CXCR3-Dependent Upregulation of Col1a1 in Fibroblasts. The Journal of investigative dermatology 20 36708947
2022 RhoBTB3 Regulates Proliferation and Invasion of Breast Cancer Cells via Col1a1. Molecules and cells 20 35698915
2012 COL1A1 haplotypes and hip fracture. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 20 22190259
2011 An association study of the COL1A1 gene and high myopia in a Han Chinese population. Molecular vision 20 22219633
2022 Circ_0000523 regulates miR-1184/COL1A1/PI3K/Akt pathway to promote nasopharyngeal carcinoma progression. Apoptosis : an international journal on programmed cell death 19 35759163
2020 lncRNA TUG1 Promotes Cell Proliferation, Migration, and Invasion in Hepatocellular Carcinoma via Regulating miR-29c-3p/COL1A1 Axis. Cancer management and research 19 32821161
2012 Downregulation of Col1a1 induces differentiation in mouse spermatogonia. Asian journal of andrology 19 23064687
2007 RNAi-mediated inhibition of COL1A1 and COL3A1 in human skin fibroblasts. Experimental dermatology 19 17576241
2024 MiRNA-766-3p inhibits gastric cancer via targeting COL1A1 and regulating PI3K/AKT signaling pathway. Journal of Cancer 18 38230216
2011 JAG1 and COL1A1 polymorphisms and haplotypes in relation to bone mineral density variations in postmenopausal Mexican-Mestizo Women. Age (Dordrecht, Netherlands) 17 22174012
2022 Single-cell transcriptomics identifies Col1a1 and Col1a2 as hub genes in obesity-induced cardiac fibrosis. Biochemical and biophysical research communications 16 35714568
2022 Molecular Characteristics and Promoter Analysis of Porcine COL1A1. Genes 16 36360208
2019 lnc-SAMD14-4 can regulate expression of the COL1A1 and COL1A2 in human chondrocytes. PeerJ 16 31534838
2004 Association between COL1A1 gene polymorphisms and bone size in Caucasians. European journal of human genetics : EJHG 16 14722584
2025 Col1A1 as a new decoder of clinical features and immune microenvironment in ovarian cancer. Frontiers in immunology 15 39845977
2022 MiR-29b-3p Inhibits Migration and Invasion of Papillary Thyroid Carcinoma by Downregulating COL1A1 and COL5A1. Frontiers in oncology 15 35530352
2021 Detailed Molecular Mechanism and Potential Drugs for COL1A1 in Carboplatin-Resistant Ovarian Cancer. Frontiers in oncology 15 33680916
2025 COL1A1-positive endothelial cells promote gastric cancer progression via the ANGPTL4-SDC4 axis driven by endothelial-to-mesenchymal transition. Cancer letters 14 40254092
2023 The m6A demethylase FTO promotes keloid formation by up-regulating COL1A1. Annals of translational medicine 14 36760238
2022 Collagen fiber features and COL1A1: are they associated with elastic parameters in breast lesions, and can COL1A1 predict axillary lymph node metastasis? BMC cancer 14 36131254
2020 The impact of COL1A1 and COL6A1 expression on hypospadias and penile curvature severity. BMC urology 14 33261612
2000 Expression and characterization of Xenopus type I collagen alpha 1 (COL1A1) during embryonic development. Development, growth & differentiation 14 10910131
2022 Suppressing circ_0008494 inhibits HSCs activation by regulating the miR-185-3p/Col1a1 axis. Frontiers in pharmacology 13 36467040
2021 Interactions between Gene Variants within the COL1A1 and COL5A1 Genes and Musculoskeletal Injuries in Physically Active Caucasian. Genes 13 34356072
2014 Is Sp1 binding site polymorphism within COL1A1 gene associated with tennis elbow? Gene 13 24398012
2004 Tests of linkage and/or association of TGF-beta1 and COL1A1 genes with bone mass. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 13 15164160
2023 COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder. American journal of medical genetics. Part C, Seminars in medical genetics 12 36896471
2023 Matrix metalloproteinase-2 inducing COL1A1 synthesis via integrin alpha Ⅴ promotes invasion and metastasis of cholangiocarcinoma cells. Annals of hepatology 12 38123132
2016 Mutations in COL1A1 Gene Change Dentin Nanostructure. Anatomical record (Hoboken, N.J. : 2007) 12 26694865
2016 Is the Combination of COL1A1 Gene Polymorphisms a Marker of Injury Risk? Journal of sport rehabilitation 12 27632864
2020 Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis. Genetic testing and molecular biomarkers 11 32379989
2018 COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans: a useful diagnostic tool and clinicopathological analysis. International journal of clinical and experimental pathology 11 31949795
2005 The VDR, COL1A1, PTH, and PTHR1 gene polymorphisms are not associated with bone size and height in Chinese nuclear families. Journal of bone and mineral metabolism 11 16261459
2022 COL1A1-PDGFB Fusion Associated Fibrosarcoma of the Uterine Corpus: A Case Report and Literature Review. International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 10 36729934
2019 Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1. Bioscience reports 10 31239369
2015 Polymorphisms of collagen 1A1 (COL1A1) gene and their relation to bone mineral density in postmenopausal women. Ginekologia polska 10 26995940
2001 Dlx5 induces expression of COL1A1 promoter contained in a retrovirus vector. Croatian medical journal 10 11471195
2023 Changes of miR-139-5p, TGFB1, and COL1A1 in the placental tissue of cases with gestational diabetes mellitus. Gene 9 38048967
1989 Protein kinase C: a new linkage marker for growth hormone and for COL1A1. Genomics 9 2570026
2023 Identification of COL1A1/2 Mutations and Fusions With Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora Lesion). Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 8 36853784
2023 Revealing PPP1R12B and COL1A1 as piRNA pathway genes contributing to abdominal aortic aneurysm through integrated analysis and experimental validation. Gene 8 38070790
2023 FEATURES OF COL1A1 EXPRESSION IN BREAST CANCER TISSUE OF YOUNG PATIENTS. Experimental oncology 8 38186020
2021 Gene Polymorphism of MUC15, MMP14, BRAF, and COL1A1 Is Associated with Capsule Formation in Hepatocellular Carcinoma. Canadian journal of gastroenterology & hepatology 8 34007838

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