Identity
HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
EDSC,EDSCL1,FMDMF
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1289
MIM: 120215
HGNC: 2209
Ensembl: ENSG00000130635
Variants:
dbSNP: 1289
ClinVar: 1289
TCGA: ENSG00000130635
COSMIC: COL5A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000130635 | ENST00000371817 | P20908 |
| ENSG00000130635 | ENST00000371817 | A0A024R8E5 |
| ENSG00000130635 | ENST00000371820 | H7BY82 |
| ENSG00000130635 | ENST00000618395 | P20908 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38609499 | 2024 | COL5A1 promotes triple-negative breast cancer progression by activating tumor cell-macrophage crosstalk. | 1 |
| 38929591 | 2024 | The Association of a Single Nucleotide Variant in COL5A1 to Early Onset Keratoconus and Pectus Excavatum-Convergence of Extracellular Matrix Pathologies. | 0 |
| 38609499 | 2024 | COL5A1 promotes triple-negative breast cancer progression by activating tumor cell-macrophage crosstalk. | 1 |
| 38929591 | 2024 | The Association of a Single Nucleotide Variant in COL5A1 to Early Onset Keratoconus and Pectus Excavatum-Convergence of Extracellular Matrix Pathologies. | 0 |
| 34009784 | 2023 | Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes. | 2 |
| 34821541 | 2023 | Genetic variants within the COL5A1 gene are associated with ligament injuries in physically active populations from Australia, South Africa, and Japan. | 5 |
| 35184918 | 2023 | CircCOL5A1 inhibits proliferation, migration, invasion, and extracellular matrix production of keloid fibroblasts by regulating the miR-877-5p/EGR1 axis. | 4 |
| 36586008 | 2023 | LncRNA BBOX1-AS1 Contributes to the Progression of Esophageal Carcinoma by Targeting the miR-361-3p/COL5A1 Axis. | 1 |
| 36856154 | 2023 | LINC00173 blocks GATA6-mediated transcription of COL5A1 to affect malignant development of oral squamous cell carcinoma. | 1 |
| 38102224 | 2023 | Clinical significance of polymorphisms of genes encoding collagen (COL1A1, COL5A1) and their correlation with joint laxity and recurrent patellar dislocation in adolescents. | 0 |
| 34009784 | 2023 | Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes. | 2 |
| 34821541 | 2023 | Genetic variants within the COL5A1 gene are associated with ligament injuries in physically active populations from Australia, South Africa, and Japan. | 5 |
| 35184918 | 2023 | CircCOL5A1 inhibits proliferation, migration, invasion, and extracellular matrix production of keloid fibroblasts by regulating the miR-877-5p/EGR1 axis. | 4 |
| 36586008 | 2023 | LncRNA BBOX1-AS1 Contributes to the Progression of Esophageal Carcinoma by Targeting the miR-361-3p/COL5A1 Axis. | 1 |
| 36856154 | 2023 | LINC00173 blocks GATA6-mediated transcription of COL5A1 to affect malignant development of oral squamous cell carcinoma. | 1 |
Citation
Dessen P
COL5A1 (collagen type V alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2014-01-01
Online version: http://atlasgeneticsoncology.org/gene/53661/col5a1-(collagen-type-v-alpha-1-chain)
