CCNDBP1

Description

The CCNDBP1 (cyclin D1 binding protein 1) is a protein-coding gene located on chromosome 15.

Cyclin-D1-binding protein 1 is a protein encoded by the CCNDBP1 gene in humans. It was identified through its interaction with Grap2, a leukocyte-specific adaptor protein involved in immune cell signaling. CCNDBP1 interacts with cyclin D and has been shown to reduce phosphorylation of the Rb gene product by cyclin D-dependent protein kinase, thereby inhibiting E2F1-mediated transcription activity. Additionally, it interacts with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Two alternatively spliced variants encoding distinct isoforms have been reported. CCNDBP1 has been shown to interact with GRAP2 and Cyclin D1.

CCNDBP1 may negatively regulate cell cycle progression by inhibiting the cyclin-D1/CDK4 complex, which prevents phosphorylation of RB1 and blocks E2F-dependent transcription.

CCNDBP1 is also known as DIP1, GCIP, HHM.

Associated Diseases

• hereditary spherocytosis
• glycine N-methyltransferase deficiency
• Crigler-Najjar syndrome type 2
• familial atypical multiple mole melanoma syndrome
• bile acid conjugation defect 1
• Crigler-Najjar syndrome type 1
• colorectal cancer, susceptibility to, 12
• cancer