ID:CNBP_HUMAN DESCRIPTION: RecName: Full=Cellular nucleic acid-binding protein; Short=CNBP; AltName: Full=Zinc finger protein 9; FUNCTION: Single stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression. SUBCELLULAR LOCATION: Cytoplasm (By similarity). Endoplasmic reticulum (By similarity). TISSUE SPECIFICITY: Present in all tissues examined. DISEASE: Defects in CNBP are the cause of dystrophia myotonica type 2 (DM2) [MIM:602668]; also known as proximal myotonic myopathy (PROMM). 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. Note=The causative mutation is a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene. SIMILARITY: Contains 7 CCHC-type zinc fingers. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CNBP";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P62633
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0003697 single-stranded DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003723 RNA binding GO:0003727 single-stranded RNA binding GO:0005515 protein binding GO:0008270 zinc ion binding GO:0046872 metal ion binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006695 cholesterol biosynthetic process GO:0008284 positive regulation of cell proliferation GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter