Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

COL1A1 (collagen, type I, alpha 1)

Written2001-02Marie-Pierre Simon, Georges Maire, Florence Pedeutour
Laboratoire de Genetique, Hopital de l'Archet, 151 route de Saint Antoine de Ginestiere BP 3079, 06202 Nice Cedex 3, France

(Note : for Links provided by Atlas : click)


HGNC (Hugo) COL1A1
HGNC Alias symbOI4
HGNC Previous namecollagen, type I, alpha 1
LocusID (NCBI) 1277
Atlas_Id 186
Location 17q21.33  [Link to chromosome band 17q21]
Location_base_pair Starts at 50184101 and ends at 50201631 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping COL1A1.png]
Local_order Telomeric to MEOX1 (mesenchyme homeo box 1), centromeric to MVWF (Modifier of von Willebrand factor)
  COL1A1 (17q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CKAP4 (12q23.3)::COL1A1 (17q21.33)COL1A1 (17q21.33)::ABI3BP (3q12.2)COL1A1 (17q21.33)::ARHGAP26 (5q31.3)
COL1A1 (17q21.33)::ARNT (1q21.3)COL1A1 (17q21.33)::BASP1 (5p15.1)COL1A1 (17q21.33)::COL1A1 (17q21.33)
COL1A1 (17q21.33)::COL1A2 (7q21.3)COL1A1 (17q21.33)::ELL2 (5q15)COL1A1 (17q21.33)::EMILIN1 (2p23.3)
COL1A1 (17q21.33)::FGD2 (6p21.2)COL1A1 (17q21.33)::FMNL3 (12q13.12)COL1A1 (17q21.33)::FNDC11 (20q13.33)
COL1A1 (17q21.33)::GORASP2 (2q31.1)COL1A1 (17q21.33)::GRAP2 (22q13.1)COL1A1 (17q21.33)::GRID1 (10q23.1)
COL1A1 (17q21.33)::LUC7L (16p13.3)COL1A1 (17q21.33)::MRFAP1 (4p16.1)COL1A1 (17q21.33)::MYO1B (2q32.3)
COL1A1 (17q21.33)::PDGFB (22q13.1)COL1A1 (17q21.33)::PEAK1 (15q24.3)COL1A1 (17q21.33)::SLC39A7 (6p21.32)
COL1A1 (17q21.33)::SUMO3 (21q22.3)COL1A1 (17q21.33)::TCF25 (16q24.3)COL1A1 (17q21.33)::TNXB (6p21.33)
COL1A1 (17q21.33)::TRIT1 (1p34.2)COL1A1 (17q21.33)::UBE2W (8q21.11)COL1A1 (17q21.33)::USP6 (17p13.2)
CTSZ (20q13.32)::COL1A1 (17q21.33)DACT1 (14q23.1)::COL1A1 (17q21.33)ENAH (1q42.12)::COL1A1 (17q21.33)
EPN1 (19q13.42)::COL1A1 (17q21.33)FYTTD1 (3q29)::COL1A1 (17q21.33)H19 (11p15.5)::COL1A1 (17q21.33)
HEATR5A (14q12)::COL1A1 (17q21.33)HLA-F (6p22.1)::COL1A1 (17q21.33)NIPSNAP1 (22q12.2)::COL1A1 (17q21.33)
PDGFB (22q13.1)::COL1A1 (17q21.33)RAB1A (2p14)::COL1A1 (17q21.33)RAPGEF1 (9q34.13)::COL1A1 (17q21.33)
SCYL1 (11q13.1)::COL1A1 (17q21.33)SLC25A15 (13q14.11)::COL1A1 (17q21.33)UNC13C (15q21.3)::COL1A1 (17q21.33)
USP6 (17p13.2)::COL1A1 (17q21.33)


Description The COL1A1 gene is 18 kb in size and is composed of 52 exons. Exons 6 to 49 encode the alpha helical domain. Most of these exons were 45 bp, 54 bp or multiple of 45 bp or 54 bp
Transcription Two RNA of 5,8 kb and 4,8 kb differing by their 3 terminus non coding sequence and giving rise to a single 140 kDa protein


Description 1464 amino acids. The a1 (I) chains of the type I collagen are synthesised as procollagen molecules containing amino and carboxy-terminal propeptides, wich are removed by site-specific endopeptidase. The central triple helical domain is formed by 338 repeats of a Gly-X-Y triplet where X and Y are often a proline.
Expression Type I collagen is the most abundant protein in vertebrates and a constituent of the extra cellular matrix in connective tissue of bone, skin, tendon, ligament and dentine. It is mostly produced and secreted by fibroblasts and osteoblasts.
Localisation Extra-cellular matrix
Function Two pro a1 (I) chain associate in trimers with one pro a2 (I) chain to form the type I collagen fibrils after proteolysis.
Homology Member of the collagen family.

Implicated in

  • Dermatofibrosarcoma Protuberans (DP), also called Darier Ferrand tumour or Darier-Hoffmann tumour.
  • Giant cell fibrosarcoma (GCF) (juvenile form of DP).
  • Bednar tumour (pigmented variant of DP)
  • Disease Infiltrative skin tumours of intermediate malignancy
    Prognosis The prognosis is usually favourable. These tumours are locally aggressive and highly recurrent, but metastases or tumour-related deaths are extremely rare.
    Cytogenetics Dermatofibrosarcoma Protuberans, Giant Cell fibrosarcoma and Bednar tumours present specific cytogenetic features such as reciprocal translocations t(17;22)(q22;q13.1) ( Fig A) or, more often, supernumerary ring chromosomes derived from t(17;22) (B). As shown by FISH analysis, the ring chromosomes contain chromosome 22 centromere and low-level amplification of 22cen-q13.1 and 17q22-qter sequences. To note, in most cases, the derivative chromosome 17 is not present. In contrast, several copies of the derivative chromosome 22 are generally addition to two apparently normal chromosomes 17
    Hybrid/Mutated Gene
  • Both rings and der(22) translocated chromosomes present a same molecular rearrangement that fuses the and the platelet-derived growth factor B chain (PDGFB) genes (C).
  • In all DP and GCF cases studied, the t(17;22)translocation results in chimerical COL1A1/PDGFB mRNA production, in which the PDGFB exon 1 is deleted and replaced by a variable segment of COL1A1 mRNA sequence. In the 32 cases tested the fusion mRNA was an in-frame fusion of one of the COL1A1 exons (varying from exon 7 to exon 47) to PDGFB exon 2 (D).
    Abnormal Protein
  • COL1A1 and PDGFB are both encoded as pro-peptides, which are processed by proteolytic cleavage at N and C-terminus, to give mature proteins. Sequences analyses of the chimerical COL1A1/PDGFB fusion transcripts showed that the COL1A1/PDGFB putative proteins displayed a pro-peptide structure, which preserved the N-terminus COL1A1 pro-peptide containing the signal peptide and the N and C-terminus PDGFB maturation cleavage sites.
  • The functional and structural properties of the COL1A1/PDGFB fusion protein were characterized by generating stable fibroblastic cell lines that expressed tumour-derived COL1A1/PDGFB chimerical genes. The diagram herein given presents the COL1A1/PDGFB chimerical protein encoded by the T94796 tumour-derived chimerical COL1A1/PDGFB cDNA sequence
    A chimerical COL1A1/PDGFB cDNA sequence fusing COL1A1 exon 29 to PDGFB exon 2 was isolated from the DP T94796 tumour and stably transfected in the Chinese hamster lung fibroblastic cell line PS200 (E).
    The T94796 COL1A1/PDGFB chimerical protein sequence retained the COL1A1 N-terminus processing site encoded by the COL1A1 exon 6 and the N and C-terminus PDGFB processing sites encoded by the PDGFB exons 3 and 6 respectively (F).
    Mutagenesis experiments and immunodetection with anti-PDGFBB and specific anti-COL1A1/PDGFB antibodies showed that COL1A1/PDGFB expressing cells produced 116 kD chimerical COL1A1/PDGFB precursors chains, which formed dimers and were processed to give active 30 kD PDGFB-like dimers (G).
  • Transfected cells lines expressing the chimerical T94796-COL1A1/PDGFB proteins became independent upon growth factors, including PDGFB, and induced tumours formation in nude mice. In addition, it was shown that the COL1A1/PDGFB stable clones cells contained activated PDGF b-receptors and that the conditioned media from COL1A1/PDGFB transfected cells were able to stimulate fibroblastic cells growth. Anti-PDGFBB antibodies neutralized this effect.
  • These results strongly suggest that the COL1A1/PDGFB chimerical gene expression associated with DP, contributes to tumour formation through ectopic production of mature PDGFB and the formation of an autocrine loop.




    Brittle bones--fragile molecules: disorders of collagen gene structure and expression.
    Byers PH
    Trends in genetics : TIG. 1990 ; 6 (9) : 293-300.
    PMID 2238087
    The human type I collagen mutation database.
    Dalgleish R
    Nucleic acids research. 1997 ; 25 (1) : 181-187.
    PMID 9016532
    Soft tissue sarcomas in dermatology.
    Fish FS
    Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]. 1996 ; 22 (3) : 268-273.
    PMID 8599739
    Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans.
    Greco A, Fusetti L, Villa R, Sozzi G, Minoletti F, Mauri P, Pierotti MA
    Oncogene. 1998 ; 17 (10) : 1313-1319.
    PMID 9771975
    Fibrosarcomatous (high-grade) dermatofibrosarcoma protuberans: clinicopathologic and immunohistochemical study of a series of 41 cases with emphasis on prognostic significance.
    Mentzel T, Beham A, Katenkamp D, Dei Tos AP, Fletcher CD
    The American journal of surgical pathology. 1998 ; 22 (5) : 576-587.
    PMID 9591728
    COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma protuberans.
    Navarro M, Simon MP, Migeon C, Turc-Carel C, Pedeutour F
    Genes, chromosomes & cancer. 1998 ; 23 (3) : 263-266.
    PMID 9790508
    Supernumerary ring chromosome in a Bednar tumor (pigmented dermatofibrosarcoma protuberans) is composed of interspersed sequences from chromosomes 17 and 22: a fluorescence in situ hybridization and comparative genomic hybridization analysis.
    Nishio J, Iwasaki H, Ishiguro M, Ohjimi Y, Yo S, Isayama T, Naito M, Kikuchi M
    Genes, chromosomes & cancer. 2001 ; 30 (3) : 305-309.
    PMID 11170290
    Various regions within the alpha-helical domain of the COL1A1 gene are fused to the second exon of the PDGFB gene in dermatofibrosarcomas and giant-cell fibroblastomas.
    O'Brien KP, Seroussi E, Dal Cin P, Sciot R, Mandahl N, Fletcher JA, Turc-Carel C, Dumanski JP
    Genes, chromosomes & cancer. 1998 ; 23 (2) : 187-193.
    PMID 9739023
    Translocation, t(17;22)(q22;q13), in dermatofibrosarcoma protuberans: a new tumor-associated chromosome rearrangement.
    Pedeutour F, Simon MP, Minoletti F, Barcelo G, Terrier-Lacombe MJ, Combemale P, Sozzi G, Ayraud N, Turc-Carel C
    Cytogenetics and cell genetics. 1996 ; 72 (2-3) : 171-174.
    PMID 8978765
    The dermatofibrosarcoma protuberans-associated collagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB.
    Shimizu A, O'Brien KP, Sjöblom T, Pietras K, Buchdunger E, Collins VP, Heldin CH, Dumanski JP, Ostman A
    Cancer research. 1999 ; 59 (15) : 3719-3723.
    PMID 10446987
    Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22)(q22;q13.1) in Dermatofibrosarcoma protuberans (DP).
    Simon MP, Navarro M, Roux D, Pouysségur J
    Oncogene. 2001 ; 20 (23) : 2965-2975.
    PMID 11420709
    Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.
    Simon MP, Pedeutour F, Sirvent N, Grosgeorge J, Minoletti F, Coindre JM, Terrier-Lacombe MJ, Mandahl N, Craver RD, Blin N, Sozzi G, Turc-Carel C, O'Brien KP, Kedra D, Fransson I, Guilbaud C, Dumanski JP
    Nature genetics. 1997 ; 15 (1) : 95-98.
    PMID 8988177
    Detection of COL1A1-PDGFB fusion transcripts in dermatofibrosarcoma protuberans by reverse transcription-polymerase chain reaction using archival formalin-fixed, paraffin-embedded tissues.
    Wang J, Hisaoka M, Shimajiri S, Morimitsu Y, Hashimoto H
    Diagnostic molecular pathology : the American journal of surgical pathology, part B. 1999 ; 8 (3) : 113-119.
    PMID 10565681


    This paper should be referenced as such :
    Simon, MP ; Maire, G ; Pedeutour, F
    COL1A1 (collagen, type I, alpha 1)
    Atlas Genet Cytogenet Oncol Haematol. 2001;5(2):78-82.
    Free journal version : [ pdf ]   [ DOI ]

    Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
      t(17;22)(q21;q13) COL1A1::PDGFB

    External links

    HGNC (Hugo)COL1A1   2197
    LRG (Locus Reference Genomic)LRG_1
    Atlas Explorer : (Salamanque)COL1A1
    Entrez_Gene (NCBI)COL1A1    collagen type I alpha 1 chain
    AliasesCAFYD; EDSARTH1; EDSC; OI1; 
    OI2; OI3; OI4
    GeneCards (Weizmann)COL1A1
    Ensembl hg19 (Hinxton)ENSG00000108821 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000108821 [Gene_View]  ENSG00000108821 [Sequence]  chr17:50184101-50201631 [Contig_View]  COL1A1 [Vega]
    ICGC DataPortalENSG00000108821
    TCGA cBioPortalCOL1A1
    AceView (NCBI)COL1A1
    Genatlas (Paris)COL1A1
    SOURCE (Princeton)COL1A1
    Genetics Home Reference (NIH)COL1A1
    Genomic and cartography
    GoldenPath hg38 (UCSC)COL1A1  -     chr17:50184101-50201631 -  17q21.33   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)COL1A1  -     17q21.33   [Description]    (hg19-Feb_2009)
    GoldenPathCOL1A1 - 17q21.33 [CytoView hg19]  COL1A1 - 17q21.33 [CytoView hg38]
    Genome Data Viewer NCBICOL1A1 [Mapview hg19]  
    OMIM114000   120150   130060   166200   166210   166220   166710   259420   619115   
    Gene and transcription
    Genbank (Entrez)AB209597 AH002675 AH002675 AH002675 AH002675
    RefSeq transcript (Entrez)NM_000088
    Consensus coding sequences : CCDS (NCBI)COL1A1
    Gene ExpressionCOL1A1 [ NCBI-GEO ]   COL1A1 [ EBI - ARRAY_EXPRESS ]   COL1A1 [ SEEK ]   COL1A1 [ MEM ]
    Gene Expression Viewer (FireBrowse)COL1A1 [ Firebrowse - Broad ]
    GenevisibleExpression of COL1A1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)1277
    GTEX Portal (Tissue expression)COL1A1
    Human Protein AtlasENSG00000108821-COL1A1 [pathology]   [cell]   [tissue]
    Protein : pattern, domain, 3D structure
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    Conserved Domain (NCBI)COL1A1
    Human Protein Atlas [tissue]ENSG00000108821-COL1A1 [tissue]
    Protein Interaction databases
    Complex Portal (EBI) CPX-1650 Collagen type I trimer
    CPX-4108 Collagen type I homotrimer
    Ontologies - Pathways
    PubMed499 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Search in all EBI   NCBI

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Thu Jan 20 14:04:41 CET 2022

    Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

    For comments and suggestions or contributions, please contact us