InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACTN4

Summary

InnateDB Protein

IDBP-49386.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ACTN4

Protein Name

actinin, alpha 4

Synonyms

ACTININ-4; FSGS; FSGS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000252699

InnateDB Gene

IDBG-49384 (ACTN4)

Protein Structure

UniProt Annotation

Function

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. 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.

Subcellular Localization

Nucleus. 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).

Disease Associations

Focal 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:0000269PubMed:10700177}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 91 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	91 [view]
Protein-Protein	91 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001882	nucleoside binding
GO:0003779	actin binding
GO:0005178	integrin binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0032403	protein complex binding
GO:0042803	protein homodimerization activity
GO:0044822	poly(A) RNA binding
GO:0047485	protein N-terminus binding
GO:0051015	actin filament binding

Biological Process

GO:0001666	response to hypoxia
GO:0002576	platelet degranulation
GO:0007596	blood coagulation
GO:0015031	protein transport
GO:0030168	platelet activation
GO:0032417	positive regulation of sodium:proton antiporter activity
GO:0042981	regulation of apoptotic process
GO:0048549	positive regulation of pinocytosis
GO:0051017	actin filament bundle assembly
GO:0051271	negative regulation of cellular component movement
GO:0051272	positive regulation of cellular component movement
GO:0070830	tight junction assembly
GO:1902396	protein localization to tight junction

Cellular Component

GO:0001725	stress fiber
GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005911	cell-cell junction
GO:0030018	Z disc
GO:0030529	ribonucleoprotein complex
GO:0030863	cortical cytoskeleton
GO:0031093	platelet alpha granule lumen
GO:0031143	pseudopodium
GO:0043005	neuron projection
GO:0043234	protein complex
GO:0048471	perinuclear region of cytoplasm
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001715 Calponin homology domain
IPR002017 Spectrin repeat
IPR002048 EF-hand domain
IPR014837 EF-hand, Ca insensitive
IPR018159 Spectrin/alpha-actinin
IPR022613 Calmodulin-regulated spectrin-associated protein, CH domain

PFAM