CTBP1 gene

C-terminal binding protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

From UniProt:

Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation.

From NCBI Gene:

  • HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
  • 4p partial monosomy syndrome

Cytogenetic Location: 4p16.3, which is the short (p) arm of chromosome 4 at position 16.3

Molecular Location: base pairs 1,211,440 to 1,253,919 on chromosome 4 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 4p16.3, which is the short (p) arm of chromosome 4 at position 16.3
  • BARS
  • HADDTS