Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
The Database for Annotation, Visualization and Integrated Discovery
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DAVID Functional Annotation Table
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ankyrin 1(ANK1) ankyrin 1(ANK1) Related Genes Homo sapiens
CHROMOSOME 8,
CYTOBAND 8p11.1,
ENSEMBL_GENE_ID ENSG00000029534,
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],
OFFICIAL_GENE_SYMBOL ANK1,
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.,
ankyrin 2(ANK2) ankyrin 2(ANK2) Related Genes Homo sapiens
CHROMOSOME 4,
CYTOBAND 4q25-q27,
ENSEMBL_GENE_ID ENSG00000145362,
GENERIF_SUMMARY The ankyrin-B C-terminal domain determines activity of ankyrin-B/G chimeras, Loss-of-function (E1425G) mutation in ankyrin-B (also known as ankyrin 2), a member of a family of versatile membrane adapters, causes dominantly inherited type 4 long-QT cardiac arrhythmia in humans, Data show that L1-cell adhesion molecule interactions with ankyrinB (but not with ankyrinG) are involved in the initial formation of neurites., An amphipathic alpha-helix in the divergent regulatory domain of ankyrin-b interacts with the molecular co-chaperone Hdj1/Hsp40., interaction between members of the ankyrin and beta-spectrin families previously established in erythrocytes and axon initial segments also occurs in neonatal cardiomyocytes with ankyrin-B and beta(2)-spectrin, Quantitative analysis of erythrocyte membrane proteins revealed increase in ankyrin from patients with homozygous and heterozygous forms of beta-thalassemia., Genotype-negative LQTS patients with a single ANK2 variant displayed nonexertional syncope, U waves, sinus bradycardia, and extracardiac findings., study identified T to A transition mutation at position 4,603 in exon 40 resulting in substitution of arginine for tryptophan at amino acid residue 1,535 in regulatory domain of ankyrin-B; this novel mutation may be a cause of type 4 long QT syndrome, Six novel mutations--4 in ANK2, 1 in KCNQ1, and 1 in SCN5A--were found in the patients with torsades de pointes., role of ankyrin-B-dependent protein interactions in regulating cardiac electrogenesis, Ankyrin-B has a role in cardiac function, cardiac death and premature senescence, ANK2 mutations were not found to directly cause long QT syndrome., the ankyrin-binding site is located on the cytoplasmic face of the InsP(3) receptor, thus validating the feasibility of in vivo ankyrin-InsP(3) receptor interactions., Ankyrin B modulates the function of Na,K-ATPase/inositol 1,4,5-trisphosphate receptor signaling microdomain, ANK2 is subject to alternative splicing that gives rise to unique polypeptides with diverse roles in cardiac function., Exon organization and novel alternative splicing of the human ANK2 gene, dysfunction in AnkB-based trafficking pathways causes abnormal sinoatrial node (SAN) electrical activity and sinus node dysfunction., The common genetic variation in the ANK2 gene is modified the physiological variability of the QT interval in the general population., This protein has been found differentially expressed in thalami from patients with schizophrenia., Data show that DAnk2-binding is critical for beta spectrin function in vivo., Reduced ankyrin-B expression or mutations in ankyrin 2 are associated with atrial fibrillation., Ankyrin-B protein in heart failure, Residues 63-73 of cdB3 is also essential for ankyrin binding., Gankyrin plays an essential role in estrogen-driven and GPR30-mediated endometrial carcinoma cell proliferation via the PTEN/PI3K/AKT signaling pathway., ankyrin-B linker suppresses activity of the ANK repeat domain through an intramolecular interaction, likely with a groove on the surface of the ANK repeat solenoid, thereby regulating the affinities between ankyrin-B and its binding partners, the structures of ANK repeats in complex with an inhibitory segment from the C-terminal regulatory domain and with a sodium channel Nav1.2 peptide, are reported., The identification and characterization of two functionally distinct ankyrin-B isoforms in heart provide compelling evidence that alternative splicing of the ANK2 gene regulates the fidelity of ankyrin-B interactions with proteins,
OFFICIAL_GENE_SYMBOL ANK2,
OMIM_DISEASE Cardiac arrhythmia, ankyrin-B-related, Long QT syndrome 4,
SP_COMMENT disease:Defects in ANK2 are the cause of long QT syndrome type 4 (LQT4) [MIM:600919]; also known as sick sinus syndrome with bradycardia. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress. LQT4 displays many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature., function:Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner segment of rod photoreceptors. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate., online information:Ankyrin entry, PTM:Phosphorylated at multiple sites by different protein kinases and each phosphorylation event regulates the protein's structure and function ., sequence caution:CDS lacks C-terminal region which is nevertheless present in the underlying cDNA., similarity:Contains 1 death domain., similarity:Contains 1 ZU5 domain., similarity:Contains 24 ANK repeats., subcellular location:Expressed at the apical membrane of airway lung epithelial cells (By similarity). Localized to the plasma membrane of the inner segments of photoreceptors in retina. Colocalizes with SPTBN1 in a distict intracellular compartment of neonatal cardiomyocytes., subunit:Interacts with RHBG and SPTBN1., tissue specificity:Present in plasma membrane of neurons as well as glial cells throughout the brain. Expressed in fetal brain and in temporal cortex of adult brain. Also expressed in the inner segments of rod photoreceptors in retina.,
ankyrin 3(ANK3) ankyrin 3(ANK3) Related Genes Homo sapiens
CHROMOSOME 10,
CYTOBAND 10q21,
ENSEMBL_GENE_ID ENSG00000151150,
GENERIF_SUMMARY The ankyrin-B C-terminal domain determines activity of ankyrin-B/G chimeras, Ankyrin G, a key protein of membrane remodeling after axonal injury, colocalizes with voltage gated sodium channels in human neuroma., A propensity to overexpress ankyrin G after peripheral nerve trauma may turn out to be a factor in the development of painful neuromas and neuropathic pain., ankyrin-G plays a pleiotropic role in assembly of lateral membranes of bronchial epithelial cells, Altered expression is associated with therapy failure and death in patients with multiple types of cancer., ankyrin-G regulates neuronal excitability not only through clustering Nav channels but also by directly modifying their channel gating., Ankyrin G may have a role in Hutchinson-Gilford progeria syndrome, ankyrin-G and beta(2)-spectrin are functional partners in biogenesis of the lateral membrane of epithelial cells, E-cadherin requires both ankyrin-G and beta-2-spectrin for its cellular localization in early embryos as well as cultured epithelial cells., Significant association with late-onset Alzheimer's disease for 4 SNPs, Phosphorylation and ankyrin-G binding of the C-terminal domain regulate targeting and function of the ammonium transporter RhBG, To identify susceptibility loci for bipolar disorder, we tested 1.8 million variants in 4,387 cases and 6,209 controls and identified a region of strong association (rs10994336, P = 9.1 x 10(-9)) in ANK3 (ankyrin G)., Ankyrin facilitates intracellular trafficking of alpha1-Na+-K+-ATPase in polarized cells., This study strongly support ANK3 as a bipolar disorder susceptibility gene and suggest true allelic heterogeneity., The association of ANK3 with schizophrenia is intriguing in light of recent associations of ANK3 with bipolar disorder, thereby supporting the hypothesis of an overlap in genetic susceptibility between these psychopathological entities., there is genetic variation local to ANK3 gene affecting its expression, but that this variation is not responsible for increasing risk of bipolar disorder., results suggest that allelic variation in ANK3 impacts cognitive processes associated with signal detection and this mechanism may relate to risk for Bipolar Disorder, we did not find evidence for association between the bipolar disorder risk polymorphisms rs10994336 in the ANK3 gene and rs1006737 in the CACNA1C gene in migraine, These findings supported the association between ANK3 and bipolar disorder, and also suggested the genomic region around rs1938526 as a common risk locus across ethnicities., This study demonistreated that ANK3 genotype was associated with proneness to anhedonia., results support a specific genetic contribution of ANK3 to bipolar disorder though failed to replicate findings for schizophrenia., association of SNPs rs10994336 and rs9804190 with bipolar disorders and psychosis subphenotype, The ANK3 rs9804190 C allele increases the risk for schizophrenia by affecting ANK3 expression levels, These results further support that ANK3 is a susceptibility gene specific to bipolar disorder and that more than one risk locus is involved., loss of AnkG expression may prevent the arrival of Cx43 to its final destination., DNA sequencing revealed a novel low frequency (0.007) ANK3 SNP (ss469104599) which causes a non-conservative amino acid change at position 794 in the shorter isoforms of the ankyrin G protein., Individuals carrying the bipolar disorder risk T-allele of ANK3 showed significantly reduced sensitivity in target detection, increased errors of commission, and atypical response latency variability., The findings of this study do not support a strong genetic link between bipolar disorder and major depressive disorder for ANK3 genes., data established a role for ankG in the human adaptive immune response against resident brain proteins, and they show that ankG immunization reduces brain beta-amyloid and its related neuropathology, These findings suggest a brain-specific cis-regulatory transcriptional effect of ANK3 that may be relevant to BD pathophysiology., An association between ANK3 mutations and autism spectrum disorder susceptibility., show novel expression of genes near regions of significantly associated SNPS, including TMEM26 and FOXA1 in airway epithelium and lung parenchyma, and ANK3 in alveolar macrophages in COPD, study concludes that ANK3 gene has a major influence on susceptibility to schizophrenia across populations, Cysteine 70 of ankyrin-G is S-palmitoylated and is required for function of ankyrin-G in membrane domain assembly., inactivating mutations in the Ankyrin 3 (ANK3) gene in patients with severe cognitive deficits., haplotype associated with bipolar disorder in Latino populations, A role of ANK3 in risk of stress-related and externalizing disorders, beyond its previous associations with bipolar disorder and schizophrenia., ANK3 risk allele rs1938526 appears to be associated with general cognitive impairment and widespread cortical thinning in patients with first-episode psychosis, ANK3 SNP associated with brain connectivity changes in bipolar disorder., results indicated that genetic variation within ANK3 may exert gene-specific modulating effects onworking memory deficits in schizophrenia., These resultsindicatethatariskvariantwithin ANK3 may have an impact on neurocog- nitive function,suggesting a mechanism by which ANK3 confers risk for bipolar disorder., This study demonistrated that ANK3 Bipolar disorder-associated variant rs139972937, responsible for an asparagine to serine. change (p = 0.042)., Here, we show that ANK3 gene expression in blood is significantly increased in bipolar disorder and schizophrenia compared with healthy controls., Study showed a significant association between LMAN2L and risk of both bipolar disorder and schizophrenia, Data suggest that death domain of ankyrin G (ANK3-DD; located near C-terminus) exhibits C-terminal tail that curves back so that aromatic ring of a phenylalanine residue anchors flexible tail onto core domain; ANK3-DD exists as monomer in solution., ANK3 rs10761482 showed a significant association with bipolar disorder, Kidney AE1 actually associates with epithelial ankyrin-G and renal ammonium transporter RhBG, which also binds ankyrin-G., ANK3 bipolar-risk polymorphisms are associated with hyperactivation in the ventral anterior cingulate cortex in bipolar disorder., Phosphorylation of KCNQ2 and KCNQ3 anchor domains by protein kinase CK2 augments binding to AnkG., we investigated the association of CACNA1C and ANK3 with SZ using meta-analytic techniques., ankyrin-G associates with and inhibits the endocytosis of VE-cadherin cis dimers.,
OFFICIAL_GENE_SYMBOL ANK3,
OMIM_DISEASE Mental retardation, autosomal recessive, 37,
SP_COMMENT alternative products:A number of isoforms are produced, function:Membrane-cytoskeleton linker. The neural-specific isoforms may participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments., online information:Ankyrin entry, similarity:Contains 1 death domain., similarity:Contains 1 ZU5 domain., similarity:Contains 23 ANK repeats., subunit:Neural-specific isoforms may be a constituent of a neurofascin/NRCAM/ankyrin G complex. Interacts with RHBG., tissue specificity:Expressed in brain and other tissues. Isoform 1 is neural-specific.,