CIC, capicua transcriptional repressor

CIC, capicua transcriptional repressor

• The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]

• Gene Synonyms (MRD45, protein capicua homolog,)
• NCBI Gene ID: 23152
• Species: Homo sapiens (Human)
• UNIPROT ID#>>A0A0A0MQR4
  UNIPROT ID#>>Q96RK0
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

capicua transcriptional repressor interacts with:

• centromere protein J
  centrosomal protein 78
  GTP binding protein 3, mitochondrial
  pyrroline-5-carboxylate reductase 2
  RNA polymerase I subunit H
  SET domain containing 2, histone lysine methyltransferase
  vir like m6A methyltransferase associated

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.