MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP000040

UniProt Annotations

Entry Information
Gene Nameactinin, alpha 4
Protein EntryACTN4_HUMAN
UniProt IDO43707
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=O43707-1; Sequence=Displayed; Name=ACTN4ISO; IsoId=O43707-2; Sequence=VSP_047733; Note=Does not colocalize with actin cytoskeleton structures.; Name=3; IsoId=O43707-3; Sequence=VSP_053401;
DiseaseFocal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269|PubMed:10700177}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionF-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. Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions.
InteractionP35222:CTNNB1; NbExp=7; IntAct=EBI-351526, EBI-491549; P46940:IQGAP1; NbExp=3; IntAct=EBI-351526, EBI-297509; P03466:NP (xeno); NbExp=2; IntAct=EBI-351526, EBI-2547640; Q5L4H4:NP (xeno); NbExp=5; IntAct=EBI-351526, EBI-9512099; Q07157:TJP1; NbExp=4; IntAct=EBI-351526, EBI-79553;
Sequence CautionSequence=AAC17470.1; Type=Frameshift; Positions=19, 26, 124, 130, 589, 594, 787, 806; Evidence={ECO:0000305}; Sequence=BAA24447.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the alpha-actinin family. {ECO:0000305}.
SimilarityContains 1 actin-binding domain. {ECO:0000305}.
SimilarityContains 2 CH (calponin-homology) domains. {ECO:0000255|PROSITE-ProRule:PRU00044}.
SimilarityContains 2 EF-hand domains. {ECO:0000255|PROSITE- ProRule:PRU00448}.
SimilarityContains 4 spectrin repeats. {ECO:0000305}.
Subcellular LocationNucleus. Cytoplasm. Cell junction {ECO:0000250}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Colocalizes with actin stress fibers. Nuclear translocation can be induced by the PI3 kinase inhibitor wortmannin or by cytochalasin D. Exclusively localized in the nucleus in a limited number of cell lines (breast cancer cell line MCF-7, oral floor cancer IMC-2, and bladder cancer KU- 7).
SubunitHomodimer; antiparallel (By similarity). Binds TRIM3 at the N-terminus (By similarity). 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. Component of the CART complex, at least composed of ACTN4, HGS/HRS, MYO5B and TRIM3. Interacts with BAIAP1 and PDLIM2. {ECO:0000250, ECO:0000269|PubMed:12042308, ECO:0000269|PubMed:15772161, ECO:0000269|PubMed:17289661}.
Tissue SpecificityWidely expressed.
  logo