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Gene Review

CNOT1  -  CCR4-NOT transcription complex, subunit 1

Homo sapiens

Synonyms: AD-005, CCR4-NOT transcription complex subunit 1, CCR4-associated factor 1, CDC39, KIAA1007, ...
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Disease relevance of CNOT1

  • Thirty-four fila from patients with tethered cord syndrome were immunostained with caudal neural tube developmental markers H4C4 (CD44), VIN-IS-53, AC4, FP3 and NOT1, and a panel of mature neuroglial, neural crest, epithelial and mesenchymal markers [1].

High impact information on CNOT1

  • Loss of VAD1 resulted in upregulation of NOT1, a gene encoding a global repressor of transcription [2].
  • NOT1 was found to act as an intermediary transcriptional repressor of laccase [2].
  • Rcd-1, a protein highly conserved across eukaryotes, was initially identified as a factor essential for nitrogen starvation-invoked differentiation in fission yeast, and its Saccharomyces cerevisiae homolog, CAF40, has been identified as part of the CCR4-NOT transcription complex, where it interacts with the NOT1 protein [3].
  • The cosmids isolated were then characterized, of these, 28 cosmids (12.2% of those tested) contained Not1 site(s), and 41 cosmids were localized on the eight subregions of HC21 by differential hybridization with Alu-PCR products obtained from a hybrid mapping panel [4].
  • Analysis by pulsed field gels indicates that 27 of these identify a total of 18 Not1 restriction fragments, which together account for approximately 17 million base pairs, over half the long arm [5].


  1. The immunohistochemical profile of the tethered filum terminale. George, T.M., Bulsara, K.R., Cummings, T.J. Pediatric neurosurgery. (2003) [Pubmed]
  2. The DEAD-box RNA helicase Vad1 regulates multiple virulence-associated genes in Cryptococcus neoformans. Panepinto, J., Liu, L., Ramos, J., Zhu, X., Valyi-Nagy, T., Eksi, S., Fu, J., Jaffe, H.A., Wickes, B., Williamson, P.R. J. Clin. Invest. (2005) [Pubmed]
  3. Atomic model of human Rcd-1 reveals an armadillo-like-repeat protein with in vitro nucleic acid binding properties. Garces, R.G., Gillon, W., Pai, E.F. Protein Sci. (2007) [Pubmed]
  4. Isolation of human chromosome 21-specific cosmids and their uses in mapping of cosmid contigs on chromosomal subregions. Hou, D.X., Kishida, H., Shimokawa, T., Soeda, E. Jpn. J. Hum. Genet. (1994) [Pubmed]
  5. Partial physical map of human chromosome 21. Gardiner, K., Watkins, P., Münke, M., Drabkin, H., Jones, C., Patterson, D. Somat. Cell Mol. Genet. (1988) [Pubmed]
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