InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-49386

actinin, alpha 4

IDBP-598664

actinin, alpha 4

IDBP-379441

actinin, alpha 4

IDBP-379443

actinin, alpha 4

IDBP-762543

IDBP-764478

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

ENSMUSG00000054808

View Gene Order

ENSBTAG00000011215

Not yet available

Pathways

NETPATH

NetPath_4

EGFR1 pathway

REACTOME

REACT_318

Platelet degranulation pathway

REACT_1280

Response to elevated platelet cytosolic Ca2+ pathway

REACT_23832

Nephrin interactions pathway

REACT_111155

Cell-Cell communication pathway

REACT_798

Platelet activation, signaling and aggregation pathway

REACT_604

Hemostasis pathway

KEGG

hsa04810

Regulation of actin cytoskeleton pathway

hsa04520

Adherens junction pathway

hsa04670

Leukocyte transendothelial migration pathway

hsa04530

Tight junction pathway

hsa04510

Focal adhesion pathway

hsa05322

Systemic lupus erythematosus pathway

hsa05412

Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway

hsa05146

Amoebiasis pathway

INOH

PID NCI

pdgfrbpathway

PDGFR-beta signaling pathway

Cross-References

SwissProt

O43707

TrEMBL

Q96BG6

UniProt Splice Variant

Entrez Gene

UniGene

Hs.270291 Hs.667218

RefSeq

NM_004924 XM_005259281 XM_005259282 XM_006723406

HUGO

HGNC:166

OMIM

604638

CCDS

CCDS12518

HPRD

05222

IMGT

EMBL

AC008649 AC022144 AL047603 AU118403 BC005033 BC015620 D89980 DQ431186 GU987085 U48734

GenPept

AAC17470 AAH05033 AAH15620 ABD96103 ADG03678 BAA24447

RNA Seq Atlas