CASC3 (cancer susceptibility candidate 3)

2002-03-01   Sébastien Degot 

I.G.B.M.C, 1, rue Laurent FRIES, BP 163 67404 ILLKIRH, France

Identity

HGNC
LOCATION
17q21.1
LOCUSID
ALIAS
BTZ,MLN51
FUSION GENES

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

Bibliography

Pubmed IDLast YearTitleAuthors
87521521996Two distinct amplified regions at 17q11-q21 involved in human primary breast cancer.Bièche I et al
120804732002Metastatic Lymph Node 51, a novel nucleo-cytoplasmic protein overexpressed in breast cancer.Degot S et al
74900691995Identification 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 IDTranscript IDUniprot
ENSG00000108349ENST00000264645O15234
ENSG00000108349ENST00000474190J3KSY7
ENSG00000108349ENST00000577605J3QSC4
ENSG00000108349ENST00000584997K7EQ38

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
mRNA surveillance pathwayKEGGko03015
mRNA surveillance pathwayKEGGhsa03015
Exon junction complex (EJC)KEGGhsa_M00430
Exon junction complex (EJC)KEGGM00430
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA 3'-end processingREACTOMER-HSA-72187
Transport of Mature Transcript to CytoplasmREACTOMER-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing TranscriptREACTOMER-HSA-159236
Nonsense-Mediated Decay (NMD)REACTOMER-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)REACTOMER-HSA-975957

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
169317182006Structure of the exon junction core complex with a trapped DEAD-box ATPase bound to RNA.159
151662472004Association of the breast cancer protein MLN51 with the exon junction complex via its speckle localizer and RNA binding module.36
176521582007The exon-junction-complex-component metastatic lymph node 51 functions in stress-granule assembly.28
235302322013EJC core component MLN51 interacts with eIF3 and activates translation.27
270290302016Methylation-regulated miR-124-1 suppresses tumorigenesis in hepatocellular carcinoma by targeting CASC3.18
213274272011Metastatic lymph node 51 and fibroblast-like synoviocyte hyperproliferation in rheumatoid arthritis pathogenesis.2

Citation

Sébastien Degot

CASC3 (cancer susceptibility candidate 3)

Atlas Genet Cytogenet Oncol Haematol. 2002-03-01

Online version: http://atlasgeneticsoncology.org/gene/241/casc3