Contents

Search


alpha-actinin-4; non-muscle alpha-actinin 4; F-actin cross-linking protein (ACTN4)

Function: - F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures - ACTN4 is a bundling protein - binds TRIM3 at the N-terminus (putative) - interacts with BAIAP1 & PDLIM2 Structure: - homodimer; antiparallel (putative) - belongs to the alpha-actinin family - contains 1 actin-binding domain - contains 2 CH (calponin-homology) domains - contains 2 EF-hand domains - contains 4 spectrin repeats Compartment: - nucleus, cytoplasm - colocalizes with actin stress fibers - nuclear translocation can be induced by the PI3 kinase inhibitor wortmannin or by cytochalasin D Expression: widely expressed Pathology: - exclusively localized in the nucleus in a limited number of cancer cell lines a) breast cancer cell line MCF7 b) oral floor cancer IMC2 c) bladder cancer KU7 - cytoplasmic localization of ACTN4 may be associated with cancer metastases due to enhanced cell motility - defects in ACTN4 are the cause of familial focal segmental glomerulosclerosis 1

General

alpha-actinin (ACTN) nuclear protein

Properties

CONFIGURATION: dimer SIZE: entity length = 911 aa MW = 105 kD COMPARTMENT: cytoplasm cell nucleus MOTIF: actin-binding site SITE: 1-269 FOR-BINDING-OF: F-actin MOTIF: glycine-rich region {19-26} calponin homology domain NAME: calponin homology domain SITE: 50-154 calponin homology domain NAME: calponin homology domain SITE: 163-269 binding site SITE: 177-192 FOR-BINDING-OF: phosphatidylinositol-4,5-phosphate Tyr phosphorylation site {Y265} spectrin repeat {293-403} spectrin repeat {413-518} spectrin repeat {528-639} spectrin repeat {649-752} EF hand SITE: 765-800 MOTIF: Ca+2-binding site SITE: 778-789 EF hand SITE: 806-841 MOTIF: Ca+2-binding site SITE: 819-830

Database Correlations

OMIM correlations MORBIDMAP 604638 UniProt O43707 PFAM correlations Entrez Gene 81 Kegg hsa:81

References

  1. UniProt :accession O43707
  2. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN4
  3. Medical Knowledge Self Assessment Program (MKSAP) 17, American College of Physicians, Philadelphia 2015

Component-of

mRNP granule complex