Affinage

COL1A1

Collagen alpha-1(I) chain · UniProt P02452

Round 2 corrected
Length
1464 aa
Mass
138.9 kDa
Annotated
2026-04-28
130 papers in source corpus 22 papers cited in narrative 22 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

COL1A1 encodes the α1 chain of type I collagen, the principal structural protein of bone, skin, tendon, and other connective tissues, whose Gly-X-Y triple-helical domain is essential for proper helix assembly and extracellular matrix integrity. Transcription of COL1A1 is driven by a compact proximal promoter (~476 bp) sufficient for tissue-specific expression and is positively regulated by YY1 binding adjacent to the TATA box, modulated by promoter haplotype-dependent recruitment of Osterix/Nmp4, and repressed by RFX1 (methylation-enhanced) and the RFX5–CIITA complex; upstream signals including CXCL9–CXCR3 and RUNX2 converge on COL1A1 transcription to drive fibrosis and tumor invasion (PMID:11514536, PMID:15788405, PMID:19429913, PMID:36708947, PMID:33896817). Defective splicing causes nuclear retention of COL1A1 mRNA at SC-35 domains, producing haploinsufficiency that underlies mild osteogenesis imperfecta, while glycine substitutions in the helical domain cause lethal perinatal osteogenesis imperfecta (PMID:8613526, PMID:10931857, PMID:2777764). The chromosomal translocation t(17;22) fuses COL1A1 with PDGFB, generating a chimeric protein processed into mature PDGFB that drives autocrine growth in dermatofibrosarcoma protuberans; independently, secreted COL1A1 signals through integrin β1–AKT and WNT/PCP pathways to promote cancer cell migration and invasion (PMID:8988177, PMID:11420709, PMID:32589888, PMID:29393423).

Mechanistic history

Synthesis pass · year-by-year structured walk · 19 steps
  1. 1988 Medium

    Determination of the exon–intron organization of the human COL1A1 gene established the structural framework—including the Gly-X-Y repeat-encoding exons—needed to interpret subsequent disease mutations.

    Evidence Genomic DNA sequencing and restriction mapping of 7.6 kb of human COL1A1

    PMID:2843432

    Open questions at the time
    • Only the 5' portion of the gene was sequenced
    • No functional data on regulatory elements were provided
  2. 1989 High

    Identification of glycine-to-bulky-residue substitutions in the helical domain as the cause of lethal perinatal osteogenesis imperfecta demonstrated that the Gly-X-Y repeat is indispensable for collagen triple-helix assembly.

    Evidence Chemical mismatch cleavage and sequencing of COL1A1 mRNA from OI patients with multiple independent Gly substitutions

    PMID:2777764

    Open questions at the time
    • No structural or biophysical characterization of helix disruption
    • Position-dependent severity gradient not yet mapped
  3. 1993 High

    Transgenic promoter-deletion studies revealed that a distal 624-bp element (−2296 to −1672) is active in intact bone but silenced when cells lose matrix contact, establishing that COL1A1 transcription is coupled to the extracellular matrix microenvironment.

    Evidence COL1A1-CAT transgenic mice comparing intact calvariae to isolated primary bone cells

    PMID:8355676

    Open questions at the time
    • Trans-acting factors binding this distal element were not identified
    • Signaling pathway linking matrix contact to element activity was unknown
  4. 1995 High

    Demonstration that only 476 bp of the COL1A1 promoter is sufficient for tissue-specific expression in transgenic mice showed that core regulatory information is compactly organized and does not require the first intron or most of the 3'-UTR.

    Evidence Transgenic mice with mini-COL1A1 and hybrid COL1A1/COL2A1 constructs; mRNA and protein assays across tissues

    PMID:7721894

    Open questions at the time
    • Individual cis elements within the 476-bp region were not mapped
    • Quantitative expression levels vs. endogenous gene were not compared
  5. 1996 High

    Discovery that premature stop and splice-donor mutations cause nuclear retention of COL1A1 mRNA—rather than nonsense-mediated decay—established nuclear mRNA surveillance as the mechanism underlying haploinsufficiency in mild OI type I.

    Evidence RT-PCR on nuclear vs. cytoplasmic RNA fractions from OI patient fibroblasts

    PMID:8613526

    Open questions at the time
    • The nuclear retention machinery was not identified
    • Whether transcript degradation eventually occurs in the nucleus was unresolved
  6. 1997 High

    Identification of the t(17;22) COL1A1–PDGFB fusion in DFSP revealed that a structural collagen gene can be co-opted as an oncogenic driver by providing a constitutive promoter for an otherwise tightly regulated growth factor.

    Evidence Southern blot, RT-PCR, and breakpoint mapping in multiple DFSP and giant-cell fibroblastoma specimens

    PMID:8988177

    Open questions at the time
    • Whether the chimeric protein is processed to mature PDGFB was not yet shown
    • The range of COL1A1 exon breakpoints across tumors was incompletely catalogued
  7. 2000 High

    Visualization of COL1A1 RNA trafficking showed that normal transcripts transit through SC-35 splicing-factor domains en route to export, while splice-defective transcripts stall at this step, pinpointing the nuclear compartment responsible for the retention seen in OI.

    Evidence RNA FISH with microfluorimetric quantification in patient fibroblasts comparing normal and splice-mutant alleles

    PMID:10931857

    Open questions at the time
    • Factors mediating SC-35 domain exit were not identified
    • Whether this quality-control step is COL1A1-specific or general was unknown
  8. 2001 High

    Two parallel advances defined COL1A1 transcriptional activation and oncogenic function: YY1 was shown to be an essential positive regulator binding two sites flanking the TATA box, and the COL1A1–PDGFB fusion protein was demonstrated to be processed into active PDGFB dimers that confer growth-factor independence and tumorigenicity.

    Evidence EMSA/supershift with purified YY1, promoter mutagenesis, and gain/loss-of-function transfections (YY1); stable transfections, nude mouse tumorigenicity, and mutagenesis of PDGFB cleavage site (fusion protein)

    PMID:11420709 PMID:11514536

    Open questions at the time
    • Whether YY1 is modulated by signaling pathways at the COL1A1 promoter was untested
    • Contributions of uncleaved vs. cleaved fusion forms in patient tumors were not quantified
  9. 2005 High

    Identification of RFX1 as a methylation-enhanced repressor and RFX5–CIITA as an IFN-γ-induced repressor of COL1A1 transcription explained how promoter DNA methylation and immune signaling silence collagen expression in cancer cells.

    Evidence Gel shift with methylated/unmethylated probes; RFX5 dominant-negative and CIITA RNAi; aza-dC treatment of cancer cells

    PMID:15788405

    Open questions at the time
    • In vivo ChIP confirmation of RFX1 binding at the methylated COL1A1 promoter was not performed
    • Relationship between RFX repression and fibrosis pathologies was unexplored
  10. 2009 High

    The discovery that a three-SNP haplotype in the COL1A1 5'-flank controls differential Osterix/Nmp4 recruitment and transcriptional output linked common genetic variation to osteoporosis risk through a defined transcription-factor mechanism.

    Evidence Reporter assays, EMSA, ChIP for Osterix/Nmp4/RNA Pol II, and BMD association in 3270 women

    PMID:19429913

    Open questions at the time
    • Functional contribution of each individual SNP was not fully dissected
    • Whether this haplotype affects fibrosis or tumor contexts was unknown
  11. 2012 Medium

    Col1a1 knockdown in spermatogonia impaired self-renewal markers and promoted differentiation, revealing an unexpected role for type I collagen in maintaining spermatogonial stem cell identity beyond its classical structural function.

    Evidence siRNA knockdown with marker profiling in vitro and in vivo testes electroporation in mice

    PMID:23064687

    Open questions at the time
    • Whether COL1A1 signals through integrins in this context was not tested
    • Not independently replicated
    • Mechanism linking ECM to Oct4/Plzf expression was undefined
  12. 2014 Medium

    Demonstration that excess COL1A1 polypeptide is degraded by MMP-1/2/9 and cathepsins when fibroblasts contact their own ECM established protease-mediated post-translational homeostasis as a layer of COL1A1 regulation independent of mRNA feedback.

    Evidence Fibroblast culture on plastic vs. fibroblast-derived ECM with zymography and MMP/TGF-β inhibitor assays

    PMID:24637022

    Open questions at the time
    • Specific protease cleavage sites on COL1A1 were not mapped
    • In vivo relevance of this homeostatic loop was not confirmed
  13. 2017 Medium

    Identification of miR-129-5p as a direct post-transcriptional repressor of COL1A1 via its 3'-UTR provided the first microRNA–COL1A1 axis with functional rescue evidence in a cancer context.

    Evidence Dual-luciferase 3'-UTR reporter; miR-129-5p mimic/inhibitor with COL1A1 rescue in gastric cancer cells

    PMID:28482162

    Open questions at the time
    • In vivo validation of miR-129-5p regulation of COL1A1 was lacking
    • Single lab finding
  14. 2018 Medium

    COL1A1 knockdown reduced Rac1-GTP, phospho-JNK, and RhoA-GTP in colorectal cancer cells, placing COL1A1 upstream of WNT/planar cell polarity signaling as a migration driver.

    Evidence siRNA knockdown with western blot for WNT/PCP effectors and Transwell migration assays

    PMID:29393423

    Open questions at the time
    • No epistasis with WNT/PCP pathway components was tested
    • Receptor mediating COL1A1 signal to PCP was not identified
    • Single lab
  15. 2020 Medium

    Secreted COL1A1 was shown to bind integrin β1 (ITGB1) and activate AKT phosphorylation to promote ovarian cancer invasion, defining the first receptor–signaling axis for paracrine COL1A1 pro-metastatic activity.

    Evidence siRNA/antibody blockade of COL1A1 and ITGB1 with p-AKT readout; in vivo xenograft peritoneal metastasis model

    PMID:32589888

    Open questions at the time
    • Direct COL1A1–ITGB1 binding was not reconstituted with purified proteins
    • Contribution of other integrin α-subunit partners was not assessed
  16. 2021 Medium

    RUNX2 was placed upstream of COL1A1 in a gastric cancer metastasis axis: COL1A1 knockdown fully abolished RUNX2-driven invasion, demonstrating that COL1A1 is a necessary effector of RUNX2 transcriptional pro-metastatic activity.

    Evidence RUNX2 overexpression with COL1A1 siRNA rescue; in vivo lung metastasis xenograft

    PMID:33896817

    Open questions at the time
    • Direct RUNX2 binding to the COL1A1 promoter was not shown by ChIP
    • Single cancer type tested
  17. 2022 High

    Col1a1 was identified as the central structural organizer of glioma oncostreams; its inhibition eliminated these dynamic mesenchymal structures, reprogrammed the tumor microenvironment, and extended survival, establishing COL1A1 as a functional driver of mesenchymal tumor architecture.

    Evidence Spatial transcriptomics, intravital imaging, genetically engineered mouse glioma models, and Col1a1 shRNA with survival analysis

    PMID:35750880

    Open questions at the time
    • Whether COL1A1 acts cell-autonomously or via ECM signaling to organize oncostreams was not dissected
    • Human glioma validation was correlative
  18. 2023 High

    Two new regulatory inputs to COL1A1 were defined: the CXCL9–CXCR3 chemokine axis was shown to directly induce Col1a1 in fibroblasts and drive dermal fibrosis in knockout mice, and the m6A demethylase FTO was shown to stabilize COL1A1 mRNA by removing m6A marks, promoting keloid fibrosis.

    Evidence Cxcl9/Cxcr3 knockout mice with bleomycin fibrosis and recombinant CXCL9 in vitro (CXCL9); MeRIP-qPCR and FTO overexpression in keloid fibroblasts (FTO)

    PMID:36708947 PMID:36760238

    Open questions at the time
    • Downstream signaling from CXCR3 to COL1A1 promoter elements is undefined
    • FTO–COL1A1 axis awaits in vivo validation
    • Interplay between m6A regulation and transcriptional control of COL1A1 is unexplored
  19. 2023 Medium

    COL1A1 was placed in an MMP2–integrin αV–COL1A1–NF-κB–PD-L1 signaling chain in cholangiocarcinoma, linking collagen remodeling to immune evasion.

    Evidence COL1A1 overexpression/knockdown with pathway inhibitors for integrin αV and NF-κB; xenograft validation

    PMID:38123132

    Open questions at the time
    • Each step in the signaling chain was tested pharmacologically without genetic epistasis
    • Whether COL1A1 directly binds integrin αV was not shown
    • Single lab, single cancer type

Open questions

Synthesis pass · forward-looking unresolved questions
  • Major open questions include: the structural basis of COL1A1's signaling through specific integrin heterodimers; how the multiple transcriptional, post-transcriptional (miRNA, m6A), and proteolytic regulatory layers are integrated in vivo; and whether COL1A1's non-structural signaling roles in stem cell maintenance and tumor architecture are mediated by the same integrin-dependent mechanisms identified in cancer invasion.
  • No high-resolution structure of COL1A1–integrin complex exists
  • Systems-level integration of regulatory inputs has not been modeled
  • Non-structural roles lack receptor-level mechanistic resolution

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 2 GO:0098631 cell adhesion mediator activity 2
Localization
GO:0031012 extracellular matrix 4 GO:0005576 extracellular region 2 GO:0005634 nucleus 2
Pathway
R-HSA-1474244 Extracellular matrix organization 3 R-HSA-162582 Signal Transduction 3 R-HSA-1643685 Disease 2
Partners
COL1A2FTOITGB1PDGFBRFX1RUNX2YY1

Evidence

Reading pass · 22 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1997 The t(17;22)(q22;q13) chromosomal translocation in dermatofibrosarcoma protuberans (DFSP) fuses COL1A1 on chromosome 17 with the PDGFB gene on chromosome 22, deleting exon 1 of PDGFB and releasing the growth factor from its normal regulation, thereby driving tumor formation through constitutive PDGFB signaling. Southern blotting, RT-PCR, genomic characterization of breakpoints in DFSP and giant-cell fibroblastoma tumor specimens Nature genetics High 8988177
2001 The COL1A1-PDGFB chimeric protein produced by the t(17;22) translocation is processed in transfected cells into mature PDGFB dimers, confers growth factor independence and tumorigenicity in nude mice, and stimulates fibroblast growth via the PDGFB receptor pathway; mutagenesis showed uncleaved COL1A1-PDGFB forms are also mitogenic, contributing to the transformed phenotype. Stable and transient transfections in fibroblastic and epithelial cell lines; anti-PDGFB and anti-COL1A1-PDGFB antibody characterization; tumorigenicity assay in nude mice; mutagenesis experiments Oncogene High 11420709
1996 COL1A1 null alleles arising from premature stop mutations or splice donor mutations produce transcripts that are retained in the nucleus and absent from the cytoplasm, establishing that nuclear retention/mRNA export failure is the mechanism underlying haploinsufficiency in mild osteogenesis imperfecta type I. RT-PCR and single-strand conformational polymorphism of nuclear vs. cytoplasmic fractions of COL1A1 mRNA from OI patient fibroblasts The Journal of clinical investigation High 8613526
2000 Normal COL1A1 pre-mRNA undergoes cotranscriptional splicing at or adjacent to the gene and then transits through an SC-35 splicing factor domain before nuclear export; splice-defective COL1A1 transcripts (from an OI intron 26 mutation) initiate transport from the gene into the SC-35 domain but accumulate abnormally and are impeded in exit, identifying movement through the SC-35 domain as a discrete step in COL1A1 mRNA export. Fluorescence in situ hybridization of COL1A1 RNA in patient fibroblasts; microfluorimetric analysis of nuclear RNA tracks; comparison of normal vs. splice-mutant alleles The Journal of cell biology High 10931857
2005 RFX1 binds the methylated COL1A1 promoter (sites -11 to +10) with higher affinity than the unmethylated site and represses COL1A1 transcription; RFX5 (as part of a complex with CIITA induced by IFN-γ) represses both COL1A1 and COL1A2 promoters equally. The COL1A1 gene is methylated in human cancer cells, correlating with reduced collagen expression that is reversed by the methylation inhibitor aza-dC. Gel shift assays, co-immunoprecipitation, RFX5 dominant-negative transfections, CIITA RNAi, transient transfection reporter assays, methylation inhibitor (aza-dC) treatment The Journal of biological chemistry High 15788405
2001 YY1 binds two sites (YY1A at -40/-37 bp and YY1B at -32/-29 bp) in the COL1A1 proximal promoter immediately upstream of the TATA box and acts as a required positive regulator of constitutive COL1A1 transcription in fibroblasts; mutation of either site reduces or abolishes promoter activity, and YY1 and TBP/TFIID can co-occupy the promoter fragment. EMSA with purified recombinant YY1 and nuclear extracts; supershift with YY1-specific antibody; mutation analysis; Col1a1-luciferase co-transfections with pCMV-YY1 and antisense YY1 The Journal of biological chemistry High 11514536
2009 Three polymorphisms in the COL1A1 5' flank (-1997G/T, -1663IndelT, +1245G/T) interact to regulate transcription: the osteoporosis-associated G-del-T haplotype drives 2-fold higher transcription and has increased binding affinity for a protein complex containing Nmp4 and Osterix at the -1663IndelT site; chromatin IP confirmed recruitment of Osterix and Nmp4 and showed evidence of Nmp4 at the intron 1 Sp1 site; G-del-T haplotype shows higher RNA Pol II binding. Reporter gene transcription assays; gel shift assays; chromatin immunoprecipitation; genotype-BMD association in 3270 Caucasian women Human molecular genetics High 19429913
1993 A 624-bp region of the COL1A1 promoter between positions -2296 and -1672 is active in intact bone and cultured bone but inactive in primary bone cells isolated from bone, demonstrating that the loss of cell-matrix interactions in culture causes differential downregulation of COL1A1 promoter activity. Transgenic mice expressing COL1A1-CAT fusion genes; CAT reporter assays in calvariae vs. primary bone cell cultures; comparison of 3.6 kb, 2.3 kb, and 1.7 kb 5'-deletion constructs Molecular and cellular biology High 8355676
1995 Only 476 bp of the COL1A1 promoter is sufficient to drive tissue-specific expression of the COL1A1 gene in transgenic mice; the first intron and 90% of the 3'-UTR are not required for tissue-specific expression. Transgenic mice with mini-COL1A1 gene and hybrid COL1A1/COL2A1 gene constructs; assay of transgene mRNA and protein in tissues The Journal of biological chemistry High 7721894
1989 Point mutations in COL1A1 causing substitution of conserved glycine residues in the helical domain (e.g., Gly973Val, Gly1006Val, Gly928Ala, Gly976Arg) are sufficient to cause lethal perinatal osteogenesis imperfecta, demonstrating that the Gly-X-Y repeating sequence is essential for normal collagen helix formation and extracellular matrix function. Chemical mismatch cleavage of mRNA-cDNA heteroduplexes; PCR amplification; DNA sequencing; identification of heterozygous single-base mutations in patient RNA The Journal of biological chemistry High 2777764
2020 COL1A1 secreted by fibroblasts promotes ovarian cancer cell migration and invasion by binding to membrane surface receptor integrin β1 (ITGB1), activating downstream AKT phosphorylation; knockdown or blockage of ITGB1 reverses COL1A1-enhanced migration and invasion. Quantitative proteomics of ascites; siRNA knockdown and antibody blockage of COL1A1 and ITGB1; western blot for p-AKT; in vivo xenograft intraperitoneal metastasis assay in NOD/SCID mice Experimental cell research Medium 32589888
2017 miR-129-5p suppresses gastric cancer cell proliferation, migration, and invasion by directly targeting the 3'-UTR of COL1A1 mRNA; co-transfection of miR-129-5p mimics with COL1A1 rescued tumor-promoting effects, confirming a miR-129-5p/COL1A1 regulatory axis. Dual luciferase reporter assay confirming direct 3'-UTR binding; RT-qPCR and western blot; MTT, colony formation, wound healing, Transwell assays; rescue co-transfection experiments Biochemistry and cell biology Medium 28482162
2018 COL1A1 promotes CRC cell migration via the WNT/PCP signaling pathway; COL1A1 knockdown decreased levels of Rac1-GTP, phosphorylated JNK, and RhoA-GTP, which are key effectors of the WNT/PCP pathway. Transwell migration assay; siRNA knockdown; western blot for Rac1-GTP, p-JNK, RhoA-GTP; RT-PCR for WNT/PCP pathway gene expression Molecular medicine reports Medium 29393423
2022 COL1A1 is the central structural gene organizing glioma oncostreams (dynamic mesenchymal fascicles); inhibition of Col1a1 in mouse glioma eliminates oncostreams, reprograms the malignant mesenchymal phenotype, reduces expression of mesenchymal-associated genes, alters the tumor microenvironment, and prolongs animal survival. Spatial transcriptomics; ex vivo explants and intravital imaging; genetically engineered mouse glioma models; siRNA/shRNA inhibition of Col1a1; survival analysis; immunofluorescence Nature communications High 35750880
2023 The m6A demethylase FTO upregulates COL1A1 expression by removing m6A modification from COL1A1 mRNA, thereby increasing its stability; FTO overexpression promotes fibroblast migration and expression of COL1A1 and α-SMA in keloid tissue. m6A dot blotting; MeRIP-qPCR; RT-PCR; Western blot; transwell migration assay; FTO overexpression in keloid fibroblasts Annals of translational medicine Medium 36760238
2014 COL1A1 does not undergo feedback regulation at the mRNA level when fibroblasts are plated on a fibroblast-derived ECM; excess COL1A1 polypeptide chains produced (due to the absence of COL1A2 downregulation) are degraded by the combined action of MMP-1, MMP-2, MMP-9, and cathepsins, revealing protease-mediated post-translational regulation of COL1A1 protein levels. Fibroblast culture on plastic vs. fd-ECM; RT-PCR; western blot; zymographic analysis; MMP and TGF-β inhibitor assays Life sciences Medium 24637022
2021 RUNX2 transcription factor promotes gastric cancer metastasis by transcriptionally upregulating COL1A1; COL1A1 knockdown abolishes the increase in cell invasion/migration promoted by RUNX2 overexpression both in vitro and in vivo (lung metastasis model), placing COL1A1 downstream of RUNX2 in a metastasis-regulatory axis. RUNX2 overexpression and COL1A1 siRNA knockdown; migration/invasion assays; in vivo lung metastasis xenograft model; RT-PCR and western blot; immunofluorescence Cancer biomarkers Medium 33896817
2023 CXCL9 (but not CXCL10) directly induces Col1a1 mRNA expression in mouse fibroblasts via its receptor CXCR3; Cxcl9- and Cxcr3-deficient mice fail to develop bleomycin-induced dermal fibrosis, establishing that the CXCL9-CXCR3 chemokine axis mechanistically drives Col1a1 upregulation and skin fibrosis. Bleomycin mouse fibrosis model; Cxcl9/Cxcl10/Cxcr3 knockout mice; REX3 reporter mice for in vivo cytokine source identification; recombinant CXCL9 addition to cultured fibroblasts with Col1a1 mRNA quantification The Journal of investigative dermatology High 36708947
2013 The 3.2 kb Col1a1 promoter drives expression specifically in committed osteoblasts (innermost periosteal layer), which lack chondrogenic potential, while the Prx1 promoter targets osteochondroprogenitor cells; these two promoters mark distinct, non-overlapping bone cell populations. Transgenic Col1a1CreER-DsRed and Prx1CreER-GFP mice; histological analysis; flow cytometry; chondrogenic and osteogenic differentiation assays Bone High 24513582
2012 Col1a1 knockdown in mouse spermatogonia suppresses self-renewal markers (Oct4, Plzf) and promotes differentiation markers (c-kit, haprin), arrests cells in S phase, and impairs spermatogonia self-renewal in vivo (testes electroporation), establishing a role for Col1a1 in maintaining spermatogonial stem cell identity. siRNA knockdown; RT-PCR and western blot; flow cytometry cell cycle analysis; in vivo testes DNA injection and electroporation Asian journal of andrology Medium 23064687
2023 MMP2 promotes COL1A1 upregulation in cholangiocarcinoma cells via the integrin αV pathway, enhancing ECM remodelling and inducing EMT; COL1A1 in turn increases PD-L1 expression by activating the NF-κB pathway. Western blot; immunofluorescence; COL1A1 overexpression and knockdown; in vitro migration/invasion assays; in vivo xenograft; pathway inhibitor assays for integrin αV and NF-κB Annals of hepatology Medium 38123132
1988 The complete nucleotide sequence of the first 7618 bp of the human COL1A1 gene was determined, comprising 25 exons encoding the N-terminal pre-propeptide and five cyanogen-bromide-derived peptides; the conceptual amino acid translation shows 95% homology to rat α1(I) chain, establishing the gene's exon-intron organization. DNA sequencing of genomic COL1A1; restriction mapping; conceptual translation and homology comparison Gene Medium 2843432

Source papers

Stage 0 corpus · 130 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America 1479 12477932
2006 A germline-specific class of small RNAs binds mammalian Piwi proteins. Nature 1362 16751776
2015 The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell 1118 26186194
2017 Architecture of the human interactome defines protein communities and disease networks. Nature 1085 28514442
1981 Osteonectin, a bone-specific protein linking mineral to collagen. Cell 938 7034958
2020 A reference map of the human binary protein interactome. Nature 849 32296183
1991 Collagen family of proteins. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 829 1916105
2000 Structural basis of collagen recognition by integrin alpha2beta1. Cell 819 10778855
1997 The discoidin domain receptor tyrosine kinases are activated by collagen. Molecular cell 803 9659899
2021 Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Cell 705 33961781
2012 A census of human soluble protein complexes. Cell 689 22939629
2011 Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Briefings in bioinformatics 656 21873635
2006 Decreased collagen production in chronologically aged skin: roles of age-dependent alteration in fibroblast function and defective mechanical stimulation. The American journal of pathology 600 16723701
1982 Cloning and characterization of five overlapping cDNAs specific for the human pro alpha 1(I) collagen chain. Nucleic acids research 532 6183642
1996 Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nature genetics 522 8841196
1992 Lymphocyte CD44 binds the COOH-terminal heparin-binding domain of fibronectin. The Journal of cell biology 473 1730778
1989 Identification of glycoprotein IV (CD36) as a primary receptor for platelet-collagen adhesion. The Journal of biological chemistry 441 2468670
1991 Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 440 2010058
2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome research 438 15489334
1991 Membrane glycoprotein IV (CD36) is physically associated with the Fyn, Lyn, and Yes protein-tyrosine kinases in human platelets. Proceedings of the National Academy of Sciences of the United States of America 403 1715582
1997 Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nature genetics 400 8988177
1989 SPARC, a secreted protein associated with cellular proliferation, inhibits cell spreading in vitro and exhibits Ca+2-dependent binding to the extracellular matrix. The Journal of cell biology 356 2745554
1995 Interaction of biglycan with type I collagen. The Journal of biological chemistry 316 7852349
1983 Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution. Biochemistry 299 6689127
1997 Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Human mutation 253 9101290
1991 von Willebrand factor binding to platelet GpIb initiates signals for platelet activation. The Journal of clinical investigation 252 1939645
1991 Osteogenesis imperfecta: translation of mutation to phenotype. Journal of medical genetics 251 1895312
1997 Glycoprotein VI is the collagen receptor in platelets which underlies tyrosine phosphorylation of the Fc receptor gamma-chain. FEBS letters 246 9280292
1997 The human type I collagen mutation database. Nucleic acids research 233 9016532
2010 Proteomics characterization of extracellular space components in the human aorta. Molecular & cellular proteomics : MCP 231 20551380
2018 Collagen 1A1 (COL1A1) promotes metastasis of breast cancer and is a potential therapeutic target. Discovery medicine 189 29906404
2019 Collagen 1A1 (COL1A1) Is a Reliable Biomarker and Putative Therapeutic Target for Hepatocellular Carcinogenesis and Metastasis. Cancers 170 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 123 29393423
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 97 28569392
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 88 31957232
2022 COL1A1: A novel oncogenic gene and therapeutic target in malignancies. Pathology, research and practice 84 35816922
1988 Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1). Gene 84 2843432
2023 Reviewing the Regulators of COL1A1. International journal of molecular sciences 82 37373151
2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. Human mutation 80 16786509
2022 Spatiotemporal analysis of glioma heterogeneity reveals COL1A1 as an actionable target to disrupt tumor progression. Nature communications 76 35750880
1989 Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta. The Journal of biological chemistry 76 2777764
2001 Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22)(q22;q13.1) in Dermatofibrosarcoma protuberans (DP). Oncogene 75 11420709
2020 Microenvironment remodeled by tumor and stromal cells elevates fibroblast-derived COL1A1 and facilitates ovarian cancer metastasis. Experimental cell research 73 32589888
2009 Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis. Human molecular genetics 70 19429913
2007 The COL1A1 gene and high myopia susceptibility in Japanese. Human genetics 67 17557158
2013 Prx1 and 3.2kb Col1a1 promoters target distinct bone cell populations in transgenic mice. Bone 65 24513582
2012 Gene variants within the COL1A1 gene are associated with reduced anterior cruciate ligament injury in professional soccer players. Journal of science and medicine in sport 64 23168334
2018 MicroRNA-29b-3p prevents Schistosoma japonicum-induced liver fibrosis by targeting COL1A1 and COL3A1. Journal of cellular biochemistry 63 29091295
2006 Gains of COL1A1-PDGFB genomic copies occur in fibrosarcomatous transformation of dermatofibrosarcoma protuberans. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 60 16980946
1993 Transgenic expression of COL1A1-chloramphenicol acetyltransferase fusion genes in bone: differential utilization of promoter elements in vivo and in cultured cells. Molecular and cellular biology 58 8355676
2017 COL1A1, PRPF40A, and UCP2 correlate with hypoxia markers in non-small cell lung cancer. Journal of cancer research and clinical oncology 57 28258342
2017 Regulatory effects of COL1A1 on apoptosis induced by radiation in cervical cancer cells. Cancer cell international 56 28775672
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 55 17431412
2005 Collagen alpha1(I) gene (COL1A1) is repressed by RFX family. The Journal of biological chemistry 55 15788405
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 44 19193665
2020 lncRNA-H19/miR-29a axis affected the viability and apoptosis of keloid fibroblasts through acting upon COL1A1 signaling. Journal of cellular biochemistry 42 31930556
2018 COL1A1: A potential therapeutic target for colorectal cancer expressing wild-type or mutant KRAS. International journal of oncology 42 30132520
1996 Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. The Journal of clinical investigation 42 8613526
2004 RNAi of COL1A1 in mesenchymal progenitor cells. European journal of human genetics : EJHG 40 15241481
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2017 Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. Human genomics 38 28810924
2016 Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. Human genomics 38 27519266
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2021 Targeting lncRNA H19/miR-29b/COL1A1 Axis Impedes Myofibroblast Activities of Precancerous Oral Submucous Fibrosis. International journal of molecular sciences 37 33672311
2019 COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients. Frontiers in genetics 36 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 34 24957638
2001 Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta. Archives of oral biology 34 11286811
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2023 Collagen 1A1 (COL1A1) and Collagen11A1(COL11A1) as diagnostic biomarkers in Breast, colorectal and gastric cancers. Gene 30 37783295
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2014 Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression. The Journal of clinical endocrinology and metabolism 30 25387264
2013 Association Between Polymorphisms of VDR, COL1A1, and LCT genes and bone mineral density in Belarusian women with severe postmenopausal osteoporosis. Medicina (Kaunas, Lithuania) 30 23985982
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
2005 Influence of IL-6, COL1A1, and VDR gene polymorphisms on bone mineral density in Crohn's disease. Gut 28 16009674
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2021 Restoration of Osteogenesis by CRISPR/Cas9 Genome Editing of the Mutated COL1A1 Gene in Osteogenesis Imperfecta. Journal of clinical medicine 27 34300306
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2020 Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta. Orphanet journal of rare diseases 25 32234057
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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
2022 Roles of H19/miR-29a-3p/COL1A1 axis in COE-induced lung cancer. Environmental pollution (Barking, Essex : 1987) 24 36150622
2019 COL1A1 affects apoptosis by regulating oxidative stress and autophagy in bovine cumulus cells. Theriogenology 24 31377650
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 23 38195542
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2013 Variations of the COL1A1 gene promoter and the relation to developmental dysplasia of the hip. Genetic testing and molecular biomarkers 22 23941072
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2022 RhoBTB3 Regulates Proliferation and Invasion of Breast Cancer Cells via Col1a1. Molecules and cells 19 35698915
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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
2007 RNAi-mediated inhibition of COL1A1 and COL3A1 in human skin fibroblasts. Experimental dermatology 19 17576241
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2012 Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 18 22508542
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2001 Bone-directed expression of Col1a1 promoter-driven self-inactivating retroviral vector in bone marrow cells and transgenic mice. Molecular therapy : the journal of the American Society of Gene Therapy 15 11319916
2023 The m6A demethylase FTO promotes keloid formation by up-regulating COL1A1. Annals of translational medicine 14 36760238
2000 Expression and characterization of Xenopus type I collagen alpha 1 (COL1A1) during embryonic development. Development, growth & differentiation 14 10910131
2025 Col1A1 as a new decoder of clinical features and immune microenvironment in ovarian cancer. Frontiers in immunology 13 39845977
2022 MiR-29b-3p Inhibits Migration and Invasion of Papillary Thyroid Carcinoma by Downregulating COL1A1 and COL5A1. Frontiers in oncology 13 35530352
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2022 Suppressing circ_0008494 inhibits HSCs activation by regulating the miR-185-3p/Col1a1 axis. Frontiers in pharmacology 12 36467040
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