CASC3 (cancer susceptibility candidate 3)
2002-03-01 Sébastien Degot AffiliationI.G.B.M.C, 1, rue Laurent FRIES, BP 163 67404 ILLKIRH, France
DNA/RNA
Description
composed of 14 exons, gene size: approximately 16 kb
Transcription
cDNA:4.1kb; coding sequence: 2111 bp
Proteins
Description
703 amino acids; theorical molecular weigth 76kDa, observed molecular weigth 115kDa; contains a functional coiled-coil domain and two functional NLS at its N-terminal part; possesses a proline-rich region with four potential SH3 domain binding sites at its C-terminal part
Expression
ubiquitous
Localisation
cytoplasmic with a perinuclear accumulation
Function
unknown
Homology
counterparts can be deduced from mouse, zebrafish, worm and drosophila genomes
Implicated in
Entity name
breast carcinomas
Note
overexpression is found in 12 to 30% of primary breast carcinomas
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8752152 | 1996 | Two distinct amplified regions at 17q11-q21 involved in human primary breast cancer. | Bièche I et al |
| 12080473 | 2002 | Metastatic Lymph Node 51, a novel nucleo-cytoplasmic protein overexpressed in breast cancer. | Degot S et al |
| 7490069 | 1995 | Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17. | Tomasetto C et al |
Other Information
Locus ID:
NCBI: 22794
MIM: 606504
HGNC: 17040
Ensembl: ENSG00000108349
Variants:
dbSNP: 22794
ClinVar: 22794
TCGA: ENSG00000108349
COSMIC: CASC3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000108349 | ENST00000264645 | O15234 |
| ENSG00000108349 | ENST00000474190 | J3KSY7 |
| ENSG00000108349 | ENST00000577605 | J3QSC4 |
| ENSG00000108349 | ENST00000584997 | K7EQ38 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32621609 | 2020 | CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex. | 21 |
| 32621609 | 2020 | CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex. | 21 |
| 27029030 | 2016 | Methylation-regulated miR-124-1 suppresses tumorigenesis in hepatocellular carcinoma by targeting CASC3. | 23 |
| 27029030 | 2016 | Methylation-regulated miR-124-1 suppresses tumorigenesis in hepatocellular carcinoma by targeting CASC3. | 23 |
| 23530232 | 2013 | EJC core component MLN51 interacts with eIF3 and activates translation. | 37 |
| 23530232 | 2013 | EJC core component MLN51 interacts with eIF3 and activates translation. | 37 |
| 21327427 | 2011 | Metastatic lymph node 51 and fibroblast-like synoviocyte hyperproliferation in rheumatoid arthritis pathogenesis. | 4 |
| 21327427 | 2011 | Metastatic lymph node 51 and fibroblast-like synoviocyte hyperproliferation in rheumatoid arthritis pathogenesis. | 4 |
| 17652158 | 2007 | The exon-junction-complex-component metastatic lymph node 51 functions in stress-granule assembly. | 40 |
| 17652158 | 2007 | The exon-junction-complex-component metastatic lymph node 51 functions in stress-granule assembly. | 40 |
| 16931718 | 2006 | Structure of the exon junction core complex with a trapped DEAD-box ATPase bound to RNA. | 210 |
| 16931718 | 2006 | Structure of the exon junction core complex with a trapped DEAD-box ATPase bound to RNA. | 210 |
| 15166247 | 2004 | Association of the breast cancer protein MLN51 with the exon junction complex via its speckle localizer and RNA binding module. | 47 |
| 15166247 | 2004 | Association of the breast cancer protein MLN51 with the exon junction complex via its speckle localizer and RNA binding module. | 47 |
Citation
Sébastien Degot
CASC3 (cancer susceptibility candidate 3)
Atlas Genet Cytogenet Oncol Haematol. 2002-03-01
Online version: http://atlasgeneticsoncology.org/gene/241/casc3-(cancer-susceptibility-candidate-3)
