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ACTN4

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Distal enterocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (A549)

Interaction

Homodimer; antiparallel. Binds TRIM3 at the N-terminus (PubMed:15772161). Interacts with MICALL2 (preferentially in opened conformation); stimulated by RAB13 activation (By similarity). Identified in a complex with CASK, IQGAP1, MAGI2, NPHS1, SPTAN1 and SPTBN1 (By similarity). Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs (PubMed:17289661). Component of the CART complex, at least composed of ACTN4, HGS/HRS, MYO5B and TRIM3 (PubMed:15772161). Interacts with MAGI1 (PubMed:12042308). Interacts with PDLIM2 (By similarity). Interacts with PPARG and RARA (PubMed:22351778). Binds to VCL; this interaction triggers VCL conformational changes (PubMed:15988023). Interacts with SEPTIN14 (PubMed:33228246).

Molecular function

Actin-binding

More Types Infomation

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