COL1A1 (collagen, type I, alpha 1)
Written | 2001-02 | Marie-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)
1. Identity
Alias_names | General Information |
Alias_symbol (synonym) | OI4 |
Other alias | |
HGNC (Hugo) | COL1A1 |
LocusID (NCBI) | 1277 |
Atlas_Id | 186 |
Location | 17q21.33 [Link to chromosome band 17q21] |
Location_base_pair | Starts at 50184096 and ends at 50201639 bp from pter ( according to hg19-Feb_2009) [Mapping COL1A1.png] |
Local_order | Telomeric to MEOX1 (mesenchyme homeo box 1), centromeric to MVWF (Modifier of von Willebrand factor) |
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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) |
2. DNA/RNA
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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 |
3. Protein
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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. |
4. Implicated in
Note | |
Entity | |
Entity | |
Entity | |
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 observed.in addition to two apparently normal chromosomes 17 |
Hybrid/Mutated Gene | |
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Abnormal Protein | |
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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). | |
Oncogenesis | |
5. Breakpoints
6. Bibliography
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 |
7. Citation
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 ] |
On line version : http://atlasgeneticsoncology.usal.es/classic/Genes/COL1A1ID186.html |
8. Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
t(17;22)(q21;q13) COL1A1/PDGFB
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Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 13 ] |
9. External links
REVIEW articles | automatic search in PubMed |
Last year publications | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Jan 17 18:52:01 CET 2019 |
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