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CIC (NM_001304815) - capicua transcriptional repressor

Protein Capicua Homolog Isoform Cic-L

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Protein summary
The protein summary provides brief information regarding your protein, namely: its full name, a brief description of its function, and genomic location of the coding gene.

This is preferred isoform of CIC protein. View all 2 isoforms
CIC: protein capicua homolog isoform CIC-L
Description:

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].

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, longest protein ##RefSeq-Attributes-END##

Strand
+
Chromosome
19
Protein
2517 residues
All mutations
350
PTM sites
73
CDS
42,775,935 - 42,799,343
Transcription
42,772,688 - 42,799,948
91.1% of sequence is predicted to be disordered

Usage summary

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External references
RefSeq, Entrez, Uniprot and Enzembl IDs related to your search query.

Mappings retrieved from NCBI & UniProt.
RefSeq
RefSeq IDs relevant to your search query.
Entrez
gene: 23152
UniProt
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Ensembl