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MGP004908

UniProt Annotations

Entry Information
Gene Nameankyrin repeat domain 1 (cardiac muscle)
Protein EntryANKR1_HUMAN
UniProt IDQ15327
SpeciesHuman
Comments
Comment typeDescription
DiseaseTotal anomalous pulmonary venous return (TAPVR) [MIM:106700]: 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. {ECO:0000269|PubMed:18273862}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
FunctionMay 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. {ECO:0000269|PubMed:15805281, ECO:0000269|PubMed:7730328}.
InductionBy TNF, IL1A/interleukin-1 alpha and parthenolide. {ECO:0000269|PubMed:15805281, ECO:0000269|PubMed:7730328}.
SimilarityContains 5 ANK repeats. {ECO:0000255|PROSITE- ProRule:PRU00023}.
Subcellular LocationNucleus {ECO:0000269|PubMed:15805281, ECO:0000269|PubMed:7730328}.
SubunitInteracts with YBX1 (By similarity). Interacts with TTN/titin. {ECO:0000250, ECO:0000269|PubMed:14583192}.
Tissue SpecificityMainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells. {ECO:0000269|PubMed:15805281, ECO:0000269|PubMed:7730328}.
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