Actinin alpha 4

Alpha-actinin-4 is a protein that in humans is encoded by the ACTN4 gene.[5]

ACTN4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WLX, 1YDI, 2R0O
Identifiers
Aliases	ACTN4, ACTININ-4, FSGS, FSGS1, Actinin alpha 4
External IDs	OMIM: 604638 MGI: 1890773 HomoloGene: 55857 GeneCards: ACTN4
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.2 Start 38,647,649 bp[1] End 38,731,589 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 B1 Start 28,893,248 bp[2] End 28,962,340 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • metal ion binding • calcium ion binding • actin binding • GO:0032403 macromolecular complex binding • RNA polymerase II regulatory region sequence-specific DNA binding • nuclear hormone receptor binding • protein homodimerization activity • protein N-terminus binding • nucleoside binding • ion channel binding • ligand-dependent nuclear receptor transcription coactivator activity • integrin binding • retinoic acid receptor binding • chromatin DNA binding • GO:0001948 protein binding • actin filament binding • RNA binding • GO:0001105 transcription coactivator activity Cellular component • extracellular exosome • extracellular region • brush border • pseudopodia • cytoplasm • actin cytoskeleton • cell junction • cell nucleus • stress fiber • intercellular junction • neuron projection • focal adhesion • platelet alpha granule lumen • intracellular • Z disc • perinuclear region of cytoplasm • cortical cytoskeleton • extracellular • cytosol • nuclear body • cytoskeleton • macromolecular complex • ribonucleoprotein Biological process • response to hypoxia • vesicle transport along actin filament • actin filament bundle assembly • positive regulation of NIK/NF-kappaB signaling • regulation of apoptotic process • positive regulation of cell migration • negative regulation of cellular component movement • bicellular tight junction assembly • positive regulation of sodium:proton antiporter activity • protein localization to bicellular tight junction • platelet degranulation • positive regulation of pinocytosis • retinoic acid receptor signaling pathway • regulation of nucleic acid-templated transcription • protein transport • peroxisome proliferator activated receptor signaling pathway • negative regulation of substrate adhesion-dependent cell spreading • positive regulation of cellular component movement • transport • tumor necrosis factor-mediated signaling pathway • positive regulation of nucleic acid-templated transcription Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	81	60595
Ensembl	ENSG00000130402 ENSG00000282844	ENSMUSG00000054808
UniProt	O43707	P57780
RefSeq (mRNA)	NM_004924 NM_001322033	NM_021895 NM_001360548 NM_001360549 NM_001360550
RefSeq (protein)	NP_001308962 NP_004915	NP_068695 NP_001347477 NP_001347478 NP_001347479
Location (UCSC)	Chr 19: 38.65 – 38.73 Mb	Chr 7: 28.89 – 28.96 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[5]