| UniProt Protein Function: | 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. |
| UniProt Protein Details: | Protein type:Transcription factor Chromosomal Location of Human Ortholog: 10q23.31 Cellular Component: cytoplasm; cytosol; I band; nucleolus; nucleoplasm; nucleus; sarcomere Molecular Function:DNA binding; histone deacetylase binding; p53 binding; protein binding; titin binding; transcription corepressor activity Biological Process: cardiac muscle morphogensis; muscle cell differentiation; positive regulation of apoptosis; positive regulation of DNA damage response, signal transduction by p53 class mediator; positive regulation of protein secretion |
| NCBI Summary: | 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] |
| UniProt Code: | Q15327 |
| NCBI GenInfo Identifier: | 109940213 |
| NCBI Gene ID: | 27063 |
| NCBI Accession: | Q15327.2 |
| UniProt Secondary Accession: | Q15327,Q96LE7, |
| UniProt Related Accession: | Q15327 |
| Molecular Weight: | 36,252 Da |
| NCBI Full Name: | Ankyrin repeat domain-containing protein 1 |
| NCBI Synonym Full Names: | ankyrin repeat domain 1 |
| NCBI Official Symbol: | ANKRD1 |
| NCBI Official Synonym Symbols: | ALRP; CARP; C-193; CVARP; MCARP; bA320F15.2 |
| NCBI Protein Information: | ankyrin repeat domain-containing protein 1 |
| UniProt Protein Name: | Ankyrin repeat domain-containing protein 1 |
| UniProt Synonym Protein Names: | Cardiac ankyrin repeat protein; Cytokine-inducible gene C-193 protein; Cytokine-inducible nuclear protein |
| Protein Family: | Ankyrin repeat domain-containing protein |
| UniProt Gene Name: | ANKRD1 |
| UniProt Entry Name: | ANKR1_HUMAN |
