Identity
HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
BTHLM1,OPLL,UCHMD1
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: 1291
MIM: 120220
HGNC: 2211
Ensembl: ENSG00000142156
Variants:
dbSNP: 1291
ClinVar: 1291
TCGA: ENSG00000142156
COSMIC: COL6A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000142156 | ENST00000361866 | P12109 |
| ENSG00000142156 | ENST00000361866 | A0A384P5H7 |
| ENSG00000142156 | ENST00000612273 | A0A087X0S5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38653581 | 2024 | Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure. | 1 |
| 38653581 | 2024 | Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure. | 1 |
| 36809953 | 2023 | Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study. | 0 |
| 36982625 | 2023 | Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. | 1 |
| 37315421 | 2023 | Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy. | 0 |
| 36809953 | 2023 | Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study. | 0 |
| 36982625 | 2023 | Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. | 1 |
| 37315421 | 2023 | Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy. | 0 |
| 33337382 | 2021 | Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene. | 0 |
| 33391546 | 2021 | H3K27 acetylation activated-COL6A1 promotes osteosarcoma lung metastasis by repressing STAT1 and activating pulmonary cancer-associated fibroblasts. | 59 |
| 33970702 | 2021 | Identification of COL6A1 as the Key Gene Associated with Antivascular Endothelial Growth Factor Therapy in Glioblastoma Multiforme. | 6 |
| 33982770 | 2021 | Collagen type VI‑α1 and 2 repress the proliferation, migration and invasion of bladder cancer cells. | 17 |
| 34287704 | 2021 | Association analysis and functional study of COL6A1 single nucleotide polymorphisms in thoracic ossification of the ligamentum flavum in the Chinese Han population. | 3 |
| 33337382 | 2021 | Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene. | 0 |
| 33391546 | 2021 | H3K27 acetylation activated-COL6A1 promotes osteosarcoma lung metastasis by repressing STAT1 and activating pulmonary cancer-associated fibroblasts. | 59 |
Citation
Dessen P
COL6A1 (collagen type VI alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2003-08-01
Online version: http://atlasgeneticsoncology.org/gene/40128/col6a1
