CNBP
Function
Single-stranded DNA-binding protein that preferentially binds to the sterol regulatory element (SRE) sequence 5'-GTGCGGTG-3', and thereby mediates transcriptional repression (PubMed:2562787). Has a role as transactivator of the Myc promoter (By similarity). Binds single-stranded RNA in a sequence-specific manner (By similarity).
Isoform 1
Binds G-rich elements in target mRNA coding sequences (PubMed:28329689). Prevents G-quadruplex structure formation in vitro, suggesting a role in supporting translation by resolving stable structures on mRNAs (PubMed:28329689).
Isoform 2
Binds to RNA.
Isoform 4
Binds to RNA.
Isoform 5
Binds to RNA.
Isoform 6
Binds to RNA.
Isoform 8
Binds to RNA.
Involvement in disease
Dystrophia myotonica 2
DM2
A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases.
None
The disease is caused by variants affecting the gene represented in this entry. The causative mutation is a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene.
Post-translational modifications
Arginine methylation by PRMT1 in the Arg/Gly-rich region impedes RNA binding.
Tissue Specificity
Expressed in the liver, kidney, spleen, testis, lung, muscle and adrenal glands.
Cellular localization
- Nucleus
- Cytoplasm
- Endoplasmic reticulum
- Isoform 1
- Cytoplasm
- Isoform 2
- Cytoplasm
- Isoform 4
- Cytoplasm
- Isoform 5
- Cytoplasm
- Isoform 6
- Cytoplasm
- Isoform 8
- Cytoplasm
Alternative names
RNF163, ZNF9, CNBP, CCHC-type zinc finger nucleic acid binding protein, Cellular nucleic acid-binding protein, Zinc finger protein 9