ANKRD1 Antibody – Rabbit Polyclonal

The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]

ANKRD1: May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells. Defects in ANKRD1 may be a cause of total anomalous pulmonary venous return (TAPVR). TAPVR is a rare congenital heart disease (CHD) in which the pulmonary veins fail to connect to the left atrium during cardiac development, draining instead into either the right atrium or one of its venous tributaries. This disease accounts for 1.5% of all CHDs and has a prevalence of approximately 1 out of 15'000 live births.

Protein type: Transcription factor

Chromosomal Location of Human Ortholog: 10q23.31

Cellular Component: nucleoplasm; I band; transcription factor complex; sarcomere; cytoplasm; nucleolus; cytosol; nucleus

Molecular Function: protein binding; DNA binding; p53 binding; histone deacetylase binding; titin binding; transcription corepressor activity

Biological Process: positive regulation of protein secretion; positive regulation of apoptosis; cardiac muscle morphogensis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of transcription from RNA polymerase II promoter; cellular lipid metabolic process; sarcomere organization