Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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ankyrin 1(ANK1) ankyrin 1(ANK1) Related Genes Homo sapiens
CYTOBAND 8p11.1,
GENERIF_SUMMARY ankyrin and protein 4.1 are cleaved by native and recombinant falcipain-2 near their C-termini, interaction of hydrophilic domain with two N-terminal immunoglobulin domains of titin, A small muscle-specific isoform of the ANK1 gene, ank1.5, interacts with obscurin. Since ank1.5 is localised on the sarcoplasmic reticulum and obscurin on the myofibrils, these two proteins may provide a molecular link between these subcellular regions., identification of ankyrin as a target of spectrin's E2/E3 activity, The interactions of three protein 4.2-derived recombinant proteins with CDB3 and ankyrin were investigated by using Far-Western blot and pull-down assay., off rates of the band 3-ankyrin interaction are sufficiently slow to allow sustained erythrocyte deformation without loss of elasticity, Allelic and genotypic frequencies were similar in both studied groups for the G199A and Memphis I polymorphismsin Hereditary Spherocytosis among the Mexican population., It was shown that the region within beta-spectrin involved in interactions with ankyrin includes a lipid-binding site and binding is inhibited by ankyrin. Our results shows, Our results therefore indicate the importance of N-terminal region for lipid-binding activity of the beta-spectrin ankyrin-binding domain and its substantial role in maintaining the spectrin-based skeleton distribution., Structural and mutational studies of the binding region on small Ank1 for obscurin suggest that it consists of two ankyrin repeats with very similar structures., Ankyrin facilitates intracellular trafficking of alpha1-Na+-K+-ATPase in polarized cells., Generated a library of more than 16,000 ANK-1 promoters with degenerate sequence around the dinucleotide deletion mutation and cloned the functional promoter sequences. Identified the wild type and three additional sequences, and derived a consensus., The Hereditary Spherocytosis mutation in the human Ankyrin-1 promoter disrupted the binding of the transcription factor TFIID, the major component of the pre-initiation complex., a region upstream of the promoter is a barrier insulator. The region exhibited functional and structural characteristics of a barrier, including prevention of gene silencing, appropriate chromatin configuration and occupancy by barrier-associated proteins, cytoskeletal ankyrin family are substrates for FIH-catalyzed hydroxylations, Determination of structural models of the complex between the cytoplasmic domain of erythrocyte band 3 and ankyrin-R repeats 13-24., results indicate that the ANK1 locus is a new, common susceptibility locus for type 2 diabetes across different ethnic groups, The interaction of KCTD6 with ankyrin-1 may have implications beyond muscle for hereditary spherocytosis, as KCTD6 is also present in erythrocytes, and erythrocyte ankyrin isoforms contain its mapped minimal binding site., A tissue-specific chromatin loop brings NF-E2 and ANK1E into close proximity preventing gene silencing and mutagenesis leading to hereditary spherocytosis., The ankyrin-binding site on band 3 is located near the deoxygenated hemoglobin-binding site, therefore following deoxygenation ankyrin is displaced from band 3., ANK1 rs516946 confers impaired insulin release., The study reports the refinement for a protein heterodimer complex using limited EPR spectroscopic data and a rigid-body docking algorithm, A novel L1340P mutation in the ANK1 gene is associated with hereditary spherocytosis., Our analyses suggest that these DNA methylation changes may have a role in the onset of Alzheimer disease given that we observed them in presymptomatic subjects and that six of the validated genes connect to a known susceptibility gene network., We identified a differentially methylated region in the ankyrin 1 (ANK1) gene that was associated with neuropathology in the entorhinal cortex, a primary site of Alzheimer disease manifestation., analysis of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis [case report of two family members],
OMIM_DISEASE Spherocytosis, type 1,
SP_COMMENT disease:Defects in ANK1 are a cause of spherocytosis type 1 (SPH1) [MIM:182900]; also called hereditary spherocytosis type 1 (HS1). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Inheritance can be autosomal dominant or recessive., domain:The 55 kDa regulatory domain is involved in regulating binding of SPTB/spectrin (beta chain) and SLC4A1/erythrocyte membrane protein band 3., domain:The ANK repeat region forms a spiral around a large central cavity and is involved in binding of ion transporters., function:Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions. In skeletal muscle, isoform Mu17 together with obscurin may provide a molecular link between the sarcoplasmic reticulum and myofibrils., online information:Ankyrin entry, PTM:Palmitoylated., PTM:Regulated by phosphorylation., similarity:Contains 1 death domain., similarity:Contains 1 ZU5 domain., similarity:Contains 23 ANK repeats., subcellular location:Colocalizes with OBSCN isoform 3/obscurin at the M line in differentiated skeletal muscle cells., subcellular location:Probably the other erythrocyte (Er) isoforms, are located near the surface of erythrocytic plasma membrane., subunit:Interacts with a number of integral membrane proteins and cytoskeletal proteins. Binds SPTB/spectrin (beta chain) through a 70 AA N-terminal region of the 62 kDa domain, and the C-terminal of SLC4A1/erythrocyte membrane protein band 3 through the ankyrin repeat region. Also interacts with TTN/titin. Isoform Mu17 interacts with OBSCN isoform 3/obscurin., tissue specificity:Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform Br21 is expressed in brain.,