ID:ANKR1_HUMAN DESCRIPTION: RecName: Full=Ankyrin repeat domain-containing protein 1; AltName: Full=Cardiac ankyrin repeat protein; AltName: Full=Cytokine-inducible gene C-193 protein; AltName: Full=Cytokine-inducible nuclear protein; 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. INDUCTION: By TNF, IL1A/interleukin-1 alpha and parthenolide. DISEASE: Defects in ANKRD1 may be a cause of total anomalous pulmonary venous return (TAPVR) [MIM:106700]. 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.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15327
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0001085 RNA polymerase II transcription factor binding GO:0001105 RNA polymerase II transcription coactivator activity GO:0002039 p53 binding GO:0003677 DNA binding GO:0003714 transcription corepressor activity GO:0005515 protein binding GO:0008134 transcription factor binding GO:0031432 titin binding GO:0042826 histone deacetylase binding GO:0061629 RNA polymerase II sequence-specific DNA binding transcription factor binding GO:0070412 R-SMAD binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0010976 positive regulation of neuron projection development GO:0019216 regulation of lipid metabolic process GO:0035690 cellular response to drug GO:0035914 skeletal muscle cell differentiation GO:0035994 response to muscle stretch GO:0043065 positive regulation of apoptotic process GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0045214 sarcomere organization GO:0045445 myoblast differentiation GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0050714 positive regulation of protein secretion GO:0055008 cardiac muscle tissue morphogenesis GO:0071222 cellular response to lipopolysaccharide GO:0071260 cellular response to mechanical stimulus GO:0071347 cellular response to interleukin-1 GO:0071356 cellular response to tumor necrosis factor GO:0071407 cellular response to organic cyclic compound GO:0071456 cellular response to hypoxia GO:0071560 cellular response to transforming growth factor beta stimulus GO:2000279 negative regulation of DNA biosynthetic process