background:
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.
Function:
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.
Subunit:
Interacts with YBX1 (By similarity). Interacts with TTN/titin.
Subcellular Location:
Nucleus.
Tissue Specificity:
Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells.
DISEASE:
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.
Similarity:
Contains 5 ANK repeats.
Database links:
Entrez Gene: 27063 Human
Entrez Gene: 107765 Mouse
Entrez Gene: 27064 Rat
Omim: 609599 Human
SwissProt: Q15327 Human
SwissProt: Q9CR42 Mouse
SwissProt: Q8R560 Rat
Unigene: 448589 Human
Unigene: 10279 Mouse
Unigene: 3789 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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