NP_004915.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
59,579 Da
NCBI Official Full Name
alpha-actinin-4 isoform 1
NCBI Official Synonym Full Names
actinin alpha 4
NCBI Protein Information
alpha-actinin-4
UniProt Protein Name
Alpha-actinin-4
UniProt Synonym Protein Names
Non-muscle alpha-actinin 4
UniProt Entry Name
ACTN4_HUMAN
NCBI Summary for 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. [provided by RefSeq, Jul 2008]
UniProt Comments for ACTN4
ACTN4: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Defects in ACTN4 are the cause of focal segmental glomerulosclerosis type 1 (FSGS1). A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. Belongs to the alpha-actinin family.
Protein type: Motility/polarity/chemotaxis; Cytoskeletal
Chromosomal Location of Human Ortholog: 19q13
Cellular Component: actin cytoskeleton; cytoplasm; extracellular region; extracellular space; focal adhesion; intracellular; nucleus; perinuclear region of cytoplasm; protein complex; pseudopodium; ribonucleoprotein complex
Molecular Function: actin binding; actin filament binding; chromatin DNA binding; integrin binding; ligand-dependent nuclear receptor transcription coactivator activity; nuclear hormone receptor binding; nucleoside binding; protein binding; protein homodimerization activity; retinoic acid receptor binding
Biological Process: platelet degranulation; positive regulation of cell migration; positive regulation of cell motility; retinoic acid receptor signaling pathway; vesicle transport along actin filament
Disease: Focal Segmental Glomerulosclerosis 1
Product References and Citations for anti-ACTN4 antibody
1. "Entrez Gene: ACTN4 actinin, alpha 4". 2. Kaplan, J. M., Kim, S. H., North, K. N., Rennke, H., Correia, L. A., Tong, H.-Q., Mathis, B. J., Rodriguez-Perez, J.-C., Allen, P. G., Beggs, A. H., Pollak, M. R. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.Nature Genet. 24: 251-256, 2000.
Research Articles on ACTN4
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Products associated with anti-ACTN4 antibody
Pathways associated with anti-ACTN4 antibody
Diseases associated with anti-ACTN4 antibody
Organs/Tissues associated with anti-ACTN4 antibody
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