======= ACTN4 =======
== Gene Information ==
* **Official Symbol**: ACTN4
* **Official Name**: actinin alpha 4
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=81|81]]
* **UniProt**: [[https://www.uniprot.org/uniprot/O43707|O43707]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=ACTN4&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ACTN4|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/604638|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: 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 Summary**: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). 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 (PubMed:15772161). 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 (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778). {ECO:0000250|UniProtKB:P57780, ECO:0000269|PubMed:15772161, ECO:0000269|PubMed:22351778, ECO:0000305|PubMed:9508771}.
|CH|
|CAMSAP CH|
|Spectrin|
|efhand Ca insen|
|protein localization to bicellular tight junction|
|protein localization to cell-cell junction|
|positive regulation of sodium:proton antiporter activity|
|nucleoside binding|
|vesicle transport along actin filament|
|regulation of sodium:proton antiporter activity|
|positive regulation of pinocytosis|
|peroxisome proliferator activated receptor signaling pathway|
|actin filament-based transport|
|regulation of pinocytosis|
|protein localization to cell junction|
|retinoic acid receptor binding|
|negative regulation of substrate adhesion-dependent cell spreading|
|positive regulation of sodium ion transmembrane transporter activity|
|retinoic acid receptor signaling pathway|
|pseudopodium|
|cortical cytoskeleton|
|positive regulation of sodium ion transmembrane transport|
|regulation of proton transport|
|nuclear hormone receptor binding|
|positive regulation of sodium ion transport|
|bicellular tight junction assembly|
|tight junction assembly|
|tight junction organization|
|apical junction assembly|
|vesicle cytoskeletal trafficking|
|brush border|
|regulation of substrate adhesion-dependent cell spreading|
|regulation of sodium ion transmembrane transporter activity|
|negative regulation of cell-substrate adhesion|
|regulation of sodium ion transmembrane transport|
|actin filament bundle assembly|
|nuclear receptor transcription coactivator activity|
|actin filament bundle organization|
|platelet alpha granule lumen|
|stress fiber|
|chromatin DNA binding|
|positive regulation of NIK/NF-kappaB signaling|
|regulation of sodium ion transport|
|negative regulation of cell morphogenesis involved in differentiation|
|positive regulation of endocytosis|
|positive regulation of ion transmembrane transporter activity|
|cell-cell junction assembly|
|protein N-terminus binding|
|regulation of NIK/NF-kappaB signaling|
|actin filament-based movement|
|positive regulation of transporter activity|
|tumor necrosis factor-mediated signaling pathway|
|ion channel binding|
|platelet degranulation|
|integrin binding|
|Z disc|
|cell-cell junction organization|
|positive regulation of cation transmembrane transport|
|ribonucleoprotein complex|
|positive regulation of ion transmembrane transport|
|intracellular receptor signaling pathway|
|cell junction assembly|
|cell-cell junction|
|establishment of vesicle localization|
|cytoskeleton-dependent intracellular transport|
|vesicle localization|
|positive regulation of transmembrane transport|
|actin filament binding|
|regulation of endocytosis|
|regulation of cell-substrate adhesion|
|cell junction organization|
|actin cytoskeleton|
|actin filament organization|
|cellular response to tumor necrosis factor|
|regulation of ion transmembrane transporter activity|
|response to tumor necrosis factor|
|regulation of transmembrane transporter activity|
|actin binding|
|negative regulation of cell adhesion|
|positive regulation of ion transport|
|regulation of transporter activity|
|nuclear body|
|transcription coactivator activity|
|regulation of cell morphogenesis involved in differentiation|
|negative regulation of cellular component movement|
|RNA polymerase II regulatory region sequence-specific DNA binding|
|neuron projection|
|negative regulation of cell development|
|regulation of cation transmembrane transport|
|response to hypoxia|
|response to decreased oxygen levels|
|establishment of organelle localization|
|response to oxygen levels|
|regulation of metal ion transport|
|focal adhesion|
|supramolecular fiber organization|
|regulation of ion transmembrane transport|
|regulation of cell morphogenesis|
|actin cytoskeleton organization|
|positive regulation of cell migration|
|positive regulation of cell motility|
|positive regulation of cellular component movement|
|regulation of vesicle-mediated transport|
|positive regulation of locomotion|
|regulation of transmembrane transport|
|actin filament-based process|
|organelle localization|
|protein-containing complex|
|cytokine-mediated signaling pathway|
|regulation of cell adhesion|
|perinuclear region of cytoplasm|
|regulation of ion transport|
|regulated exocytosis|
|negative regulation of cellular component organization|
|negative regulation of cell differentiation|
|calcium ion binding|
|exocytosis|
|regulation of cell migration|
|protein homodimerization activity|
|regulation of cell motility|
|regulation of cell development|
|negative regulation of developmental process|
|regulation of locomotion|
|positive regulation of transport|
|regulation of cellular component movement|
|secretion by cell|
|cellular response to cytokine stimulus|
|positive regulation of intracellular signal transduction|
|export from cell|
|regulation of anatomical structure morphogenesis|
|response to cytokine|
|cytoskeleton organization|
|secretion|
|response to abiotic stimulus|
|positive regulation of cellular component organization|
|RNA binding|
|protein transport|
|intracellular transport|
|peptide transport|
|regulation of apoptotic process|
|movement of cell or subcellular component|
|regulation of programmed cell death|
|amide transport|
|extracellular space|
|establishment of protein localization|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|positive regulation of signal transduction|
|regulation of cell death|
|positive regulation of RNA metabolic process|
|positive regulation of molecular function|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|establishment of localization in cell|
|nitrogen compound transport|
|regulation of transport|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|extracellular region|
|vesicle-mediated transport|
|positive regulation of cellular biosynthetic process|
|positive regulation of biosynthetic process|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp180|Dynasore 10μM R04 exp180]]|-1.99|
|[[:results:exp244|SB743921 0.001μM R05 exp244]]|-1.91|
|[[:results:exp462|Cadmium 60μM R08 exp462]]|1.7|
|[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|1.93|
^Gene^Correlation^
|[[:human genes:r:ruvbl2|RUVBL2]]|0.454|
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 3568
* **Expression level (log2 read counts)**: 7.95
{{:chemogenomics:nalm6 dist.png?nolink |}}