Homo sapiens Gene: ACTN4
Summary
InnateDB Gene IDBG-49384.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACTN4
Gene Name actinin, alpha 4
Synonyms ACTININ-4; FSGS; FSGS1;
Species Homo sapiens
Ensembl Gene ENSG00000130402
Encoded Proteins
actinin, alpha 4
actinin, alpha 4
actinin, alpha 4
actinin, alpha 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:38647649-38731583
Strand Forward strand
Band q13.2
Transcripts
ENST00000252699 ENSP00000252699
ENST00000390009 ENSP00000439497
ENST00000424234 ENSP00000411187
ENST00000440400 ENSP00000398393
ENST00000495553
ENST00000489451
ENST00000497637
ENST00000477174
ENST00000588618
ENST00000589528 ENSP00000467190
ENST00000586538 ENSP00000465176
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:0051764 actin crosslink formation
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
EGFR1 pathway
REACTOME
Cell-Cell communication pathway
Nephrin interactions pathway
Platelet degranulation pathway
Platelet activation, signaling and aggregation pathway
Response to elevated platelet cytosolic Ca2+ pathway
Hemostasis pathway
KEGG
Focal adhesion pathway
Adherens junction pathway
Tight junction pathway
Leukocyte transendothelial migration pathway
Regulation of actin cytoskeleton pathway
Amoebiasis pathway
Systemic lupus erythematosus pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
INOH
PID BIOCARTA
Ucalpain and friends in cell spread [Biocarta view]
Integrin signaling pathway [Biocarta view]
Erk and pi-3 kinase are necessary for collagen binding in corneal epithelia [Biocarta view]
PID NCI
PDGFR-beta signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.270291 Hs.667218
RefSeq NM_004924 XM_005259281 XM_005259282 XM_006723406
HUGO
OMIM
CCDS CCDS12518
HPRD 05222
IMGT
EMBL
GenPept
RNA Seq Atlas