Alpha-actinin-4

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; OMA:ACTN4 - orthologs
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 28,592,673 bp[2] End 28,661,765 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in popliteal artery tibial arteries smooth muscle tissue right coronary artery stromal cell of endometrium ascending aorta placenta body of uterus islet of Langerhans myometrium Top expressed in corneal stroma vestibular membrane of cochlear duct tunica media of zone of aorta pyloric antrum lip neural layer of retina internal carotid artery conjunctival fornix external carotid artery genital tubercle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding calcium ion binding actin binding protein-containing complex binding RNA polymerase II transcription regulatory region sequence-specific DNA binding protein homodimerization activity protein N-terminus binding nucleoside binding transmembrane transporter binding nuclear receptor coactivator activity integrin binding retinoic acid receptor binding chromatin DNA binding protein binding actin filament binding RNA binding transcription coactivator activity Cellular component extracellular exosome extracellular region brush border pseudopodium cytoplasm actin cytoskeleton cell junction nucleus stress fiber cell-cell junction neuron projection focal adhesion platelet alpha granule lumen intracellular anatomical structure Z discdkac perinuclear region of cytoplasm cortical cytoskeleton extracellular space cytosol nuclear body cytoskeleton protein-containing complex ribonucleoprotein complex 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 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 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: 28.59 – 28.66 Mb PubMed search [3] [4]
Wikidata
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Alpha-actinin-4 is a protein that in humans is encoded by the ACTN4 gene.^[5]

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]