Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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actinin alpha 1(ACTN1) actinin alpha 1(ACTN1) Related Genes Homo sapiens
CHROMOSOME 14,
CYTOBAND 14q24.1-q24.2, 14q24.1-q24.2|14q24|14q22-q24,
ENSEMBL_GENE_ID ENSG00000072110,
GENERIF_SUMMARY Identification of a 31 kD amino-terminal fragment of alpha-actinin protein, named mactinin, that promotes monocyte/macrophage maturation in vitro., the focal adhesion component alpha-actinin interacts with syndecan-4 in a beta-integrin-independent manner, an alpha-actinin-dependent association between the actin cytoskeleton and A2AR trafficking, the dynamics of alpha-actinin are important for PI 3-kinase-induced reorganization of the actin cytoskeleton, GluR4 may regulate its synaptic targeting through phosphorylation-dependent interactions with alpha-Actinin-1 and IQGAP1, S1P-induced recruitment of S1P1 to CEM fractions promotes PI3 kinase-mediated Tiam1/Rac1 activation required for alpha-actinin-1/4-regulated cortical actin rearrangement and EC barrier enhancement, Results show that the interaction between two species with weak affinity in solution, such as vinculin and alpha-actinin, can be visualized in a membrane-like environment., Alpha-actinin plays a role in regulating cell survival through stabilization of focal adhesions and regulation of TNF-alpha-induced survival signaling., Results show that the interaction between ICAM-5 and alpha-actinin is mediated through binding of positively charged amino acids near the transmembrane domain of ICAM-5, and this interaction may play an important role in neuronal differentiation., Interaction of alpha 1 actinin with ICAM-1 is required for leukocyte extravasation., Molecular dynamics method was applied to investigate the mechanical behaviour of the human skeletal muscle alpha-actinin., there is an alpha-actinin-1-dependent mGlu(5b) receptor association with the actin cytoskeleton modulating receptor cell surface expression and functioning, ACT1 is de-expressed in endometriosis and endometrioid carcinoma compared with normal uterine epithelium., Alpha-actinin-1 phosphorylation at Y12 plays a crucial role in pressure-activated cell adhesion and mechanotransduction by facilitating Src recruitment to beta(1)-integrin, and consequently the association of focal adhesion kinase with Src., Taken together, alpha-actinin not only attaches TRPP3 to the cytoskeleton but also up-regulates TRPP3 channel function., study examines the mechanism by which phosphoinositide binding regulates alpha-actinin function, A subset of the tumor-specific splicing alterations (ACTN1, CALD1, and VCL) was found in all three organs and may represent general cancer-related splicing events., alpha-actinin-1 may play a role in human glomerular disease, two sm-titin Zq domains interact with each other and with the two R2-R3 sites in the alpha-actinin central rod, interaction of GNE with alpha-actinin 1 might point to its involvement in alpha-actinin mediated processes, ICAM-2 mediates suppression of metastatic phenotype and the interaction of ICAM-2/alpha-actinin/actin represents the first complete membrane-linker protein-actin linkage to impact tumor cell motility in vitro and metastatic potential in an in vivo model., Data describe alterations of myocardial intercellular and cell-matrix contacts in hypertrophic tissue, and show intracellular translocation of beta-catenin, alpha-actinin and chondroitin sulfate proteoglycan 6 in both an animal model and in LVH patients., Mactinin is a novel inducer of Hsp90 activity on monocytes and may serve to perpetuate and augment monocytic activation., cathepsin X overexpression reduced LFA-1 clustering and induced an intermediate affinity LFA-1 conformation that is known to associate with alpha-actinin-1., Both alpha-actinin-1 and alpha-actinin-4 make critical and distinct contributions to cytoskeletal organization, rigidity-sensing, and motility of glioma cells., Alpha-actinin 1 and 4 are differentially regulated during the development and progression of astrocytomas because each of these isoforms uniquely contributes to distinct malignant properties of astrocytoma cells., The results suggest that the interaction between HAMLET and alpha-actinins promotes tumor cell detachment., Actinin-1 and cortactin showed matrix-contact-side localization in adenocarcinoma cells., The C-terminal polybasic region of CYTH2 participates in interacting directly with the EFh2 domain of ACTN1., The alpha-actinin/EWI motif-containing protein 2 (EWI-2) complex is involved in regulation of the actin cytoskeleton at T cell immune and virological synapses, providing a link between membrane microdomains and structures involved in T cell recognition., Loss of dorsal stress fibers either by depleting alpha-actinin-1 or Rac1 results in a beta-actin accumulation at the leading edge in migrating and spreading cells., Alpha actinin 1, a cytoskeleton protein implicated in inflammatory/degenerative autoimmune diseases, might be regarded as a novel multiple sclerosis autoantigen., Transduction of mouse fetal liver-derived megakaryocytes with disease-associated ACTN1 variants caused a disorganized actin-based cytoskeleton in megakaryocytes., The tyrosine phosphorylation of alpha-actinin1 at Y12 and alpha-actinin4 at Y265 is critical for dorsal stress fiber establishment, transverse arc maintenance and focal adhesion maturation., Actinin-alpha1 readily forms heterodimers composed of monomers that may have different properties and interacting proteins, altering our view of non-muscle actinin, thus altering our view of non-muscle actinin function., We conclude that alpha-actinin stabilizes Ca(V)1.2 at the plasma membrane and that its displacement by calcium-calmodulin triggers calcium-induced endocytosis of Ca(V)1.2, thus providing an important negative feedback mechanism for calcium influx., A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family., ACTN1-related thrombocytopenia is characterized by mild course with platelet macrocytosis and low risk for bleeding., ArgBP2 interaction with alpha-actinin and actin stress fibers inhibits cell migration, ACTN1 determines the motility of keratinocytes by regulating the organization of the actin cytoskeleton, focal adhesion, and hemidesmosome proteins complexes, thereby modulating cell speed, lamellipodial dynamics, and directed migration, Data indicate that alpha-actinin (110 kDa) autoantibody was characterized as a major target in lupus nephritis (LN) patients positive for Anti-membrane autoantibodies (MbA)., Host cortactin, PKD1 and actin are recruited by Trypanosoma cruzi extracellular amastigotes based on experiments in fixed and live cells by time lapse confocal microscopy., Drp1 is in dynamic equilibrium on mitochondria in a fission-independent manner, and that fission factors such as actin filaments target productive oligomerization to fission sites., The authors show that the microtubule binding protein EB1 (end-binding protein 1), a key regulator of microtubule dynamics, can bind directly to filamentous actin (F-actin) F-actin., Several dominantly inherited congenital macrothrombocytopenia-associated mutations that are located within the actinin-1 actin-binding domain cause increased binding of actinin-1 to actin filaments and enhance filament bundling in vitro.,
OFFICIAL_GENE_SYMBOL ACTN1,
OMIM_DISEASE Bleeding disorder, platelet-type, 15,
SP_COMMENT function:F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein., similarity:Belongs to the alpha-actinin family., similarity:Contains 1 actin-binding domain., similarity:Contains 2 CH (calponin-homology) domains., similarity:Contains 2 EF-hand domains., similarity:Contains 4 spectrin repeats., subcellular location:Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle., subunit:Homodimer; antiparallel. Interacts with DDN, MYOZ2, PDLIM2, TTID and LPP.,