Recombinant Human Protein capicua homolog (CIC), Truncated

Uniprot Id

Q96RK0

Target Species

Human

Target Name

CIC

Target Full Name

Protein capicua homolog

Target Function

Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development.

Target Involvement

Mental retardation, autosomal dominant 45 (MRD45)

Target Subcellular Location

Nucleus.

Target Tissue Specificity

Expressed in fetal brain.

Target Synonyms

Capicua homolog (Drosophila); Cic; CIC_HUMAN; KIAA0306; Protein capicua homolog

Target Background

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.