COL1A1 (collagen, type I, alpha 1)
2001-02-01 Marie-Pierre Simon , Georges Maire , Florence Pedeutour AffiliationLaboratoire de Genetique, Hopital de lArchet, 151 route de Saint Antoine de Ginestiere BP 3079, 06202 Nice Cedex 3, France
Identity
HGNC
LOCATION
17q21.33
IMAGE
LEGEND
COL1A1 (17q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
CAFYD,EDSARTH1,EDSC,OI1,OI2,OI3,OI4
FUSION GENES
DNA/RNA
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
Proteins
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
Entity name
Entity name
Entity name
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 gene
Fusion protein
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
Breakpoints
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 2238087 | 1990 | Brittle bones--fragile molecules: disorders of collagen gene structure and expression. | Byers PH et al |
| 9016532 | 1997 | The human type I collagen mutation database. | Dalgleish R et al |
| 8599739 | 1996 | Soft tissue sarcomas in dermatology. | Fish FS et al |
| 9771975 | 1998 | 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 et al |
| 9591728 | 1998 | Fibrosarcomatous ("high-grade") dermatofibrosarcoma protuberans: clinicopathologic and immunohistochemical study of a series of 41 cases with emphasis on prognostic significance. | Mentzel T et al |
| 9790508 | 1998 | COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma protuberans. | Navarro M et al |
| 11170290 | 2001 | 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 et al |
| 9739023 | 1998 | 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 et al |
| 8978765 | 1996 | Translocation, t(17;22)(q22;q13), in dermatofibrosarcoma protuberans: a new tumor-associated chromosome rearrangement. | Pedeutour F et al |
| 10446987 | 1999 | 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 et al |
| 11420709 | 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). | Simon MP et al |
| 8988177 | 1997 | 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 et al |
| 10565681 | 1999 | Detection of COL1A1-PDGFB fusion transcripts in dermatofibrosarcoma protuberans by reverse transcription-polymerase chain reaction using archival formalin-fixed, paraffin-embedded tissues. | Wang J et al |
Other Information
Locus ID:
NCBI: 1277
MIM: 120150
HGNC: 2197
Ensembl: ENSG00000108821
Variants:
dbSNP: 1277
ClinVar: 1277
TCGA: ENSG00000108821
COSMIC: COL1A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000108821 | ENST00000225964 | P02452 |
| ENSG00000108821 | ENST00000507689 | I3L3H7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA179 | GP1BB | Gene | Pathway | associated | 20938371 | ||
| PA204 | ITGA2 | Gene | Pathway | associated | 20938371 | ||
| PA26212 | CD36 | Gene | Pathway | associated | 20938371 | ||
| PA28823 | GP5 | Gene | Pathway | associated | 20938371 | ||
| PA28824 | GP6 | Gene | Pathway | associated | 20938371 | ||
| PA28825 | GP9 | Gene | Pathway | associated | 20938371 | ||
| PA444065 | Epilepsy | Disease | ClinicalAnnotation | associated | PD | 26727275 | |
| PA445190 | Osteoporosis | Disease | VariantAnnotation | associated | 8841196 | ||
| PA451446 | somatropin recombinant | Chemical | ClinicalAnnotation | associated | PD | 22026923 | |
| PA451846 | valproic acid | Chemical | ClinicalAnnotation | associated | PD | 26727275 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37640670 | 2024 | Effects of COL1A1 and SYTL2 on inflammatory cell infiltration and poor extracellular matrix remodeling of the vascular wall in thoracic aortic aneurysm. | 0 |
| 37783295 | 2024 | Collagen 1A1 (COL1A1) and Collagen11A1(COL11A1) as diagnostic biomarkers in Breast, colorectal and gastric cancers. | 1 |
| 38070790 | 2024 | Revealing PPP1R12B and COL1A1 as piRNA pathway genes contributing to abdominal aortic aneurysm through integrated analysis and experimental validation. | 1 |
| 38123132 | 2024 | Matrix metalloproteinase-2 inducing COL1A1 synthesis via integrin alpha Ⅴ promotes invasion and metastasis of cholangiocarcinoma cells. | 1 |
| 38158794 | 2024 | COL1A1 regulates the apoptosis of embryonic stem cells by mediating the PITX1/TBX4 signaling. | 0 |
| 38662258 | 2024 | CircCOL1A1 promotes proliferation, migration, and invasion of colorectal cancer (CRC) cells and glutamine metabolism through GLS1 up-regulation by sponging miR-214-3p. | 0 |
| 37640670 | 2024 | Effects of COL1A1 and SYTL2 on inflammatory cell infiltration and poor extracellular matrix remodeling of the vascular wall in thoracic aortic aneurysm. | 0 |
| 37783295 | 2024 | Collagen 1A1 (COL1A1) and Collagen11A1(COL11A1) as diagnostic biomarkers in Breast, colorectal and gastric cancers. | 1 |
| 38070790 | 2024 | Revealing PPP1R12B and COL1A1 as piRNA pathway genes contributing to abdominal aortic aneurysm through integrated analysis and experimental validation. | 1 |
| 38123132 | 2024 | Matrix metalloproteinase-2 inducing COL1A1 synthesis via integrin alpha Ⅴ promotes invasion and metastasis of cholangiocarcinoma cells. | 1 |
| 38158794 | 2024 | COL1A1 regulates the apoptosis of embryonic stem cells by mediating the PITX1/TBX4 signaling. | 0 |
| 38662258 | 2024 | CircCOL1A1 promotes proliferation, migration, and invasion of colorectal cancer (CRC) cells and glutamine metabolism through GLS1 up-regulation by sponging miR-214-3p. | 0 |
| 36853784 | 2023 | Identification of COL1A1/2 Mutations and Fusions With Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora Lesion). | 1 |
| 36896471 | 2023 | COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder. | 1 |
| 36951356 | 2023 | Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta. | 1 |
Citation
Marie-Pierre Simon ; Georges Maire ; Florence Pedeutour
COL1A1 (collagen, type I, alpha 1)
Atlas Genet Cytogenet Oncol Haematol. 2001-02-01
Online version: http://atlasgeneticsoncology.org/gene/186/col1a1-%28collagen-type-i-alpha-1%29
