Tbio ACTN4 Alpha-actinin-4

Protein Summary

Description

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). 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 Accession IDs

• O43707
• A4K467
• D6PXK4
• O76048

Gene Name

• ACTN4

Ensembl ID

• ENST00000252699
• ENSP00000252699
• ENSG00000130402
• ENST00000390009
• ENSP00000439497
• ENST00000634692
• ENSP00000488962
• ENSG00000282844
• ENST00000634960
• ENSP00000489220

Symbol

• FSGS
• FSGS1
• ACTININ-4

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
interacting protein	1
disease perturbation	0.99
protein domain	0.99
molecular function	0.98
cellular component	0.91

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 260.24   (req: < 5)

Gene RIFs: 101   (req: <= 3)

Antibodies: 398   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 260.24   (req: >= 5)

Gene RIFs: 101   (req: > 3)

Antibodies: 398   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 34

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (6)

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5

1 – 5 of 6

GWAS Trait	EFO ID	ENSG ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
retinal vasculature measurement	EFO_0010554	ENSG00000282844	1	1	1		68.6
retinal vasculature measurement	EFO_0010554	ENSG00000130402	1	1	1		68.6
platelet count	EFO_0004309	ENSG00000282844	1	1	1		41.8
platelet count	EFO_0004309	ENSG00000130402	1	1	1		41.8
mean platelet volume	EFO_0004584	ENSG00000282844	1	1	1		32.6

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5

1 – 5 of 6

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
retinal vasculature measurement	EFO_0010554	1		68.6
retinal vasculature measurement	EFO_0010554	1		68.6
platelet count	EFO_0004309	1		41.8
platelet count	EFO_0004309	1		41.8
mean platelet volume	EFO_0004584	1		32.6

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Orthologs (10)

1 – 5 of 10

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	actinin alpha 4	VGNC:6604	456010
Macaque	actinin alpha 4		693666
Mouse	actinin alpha 4	MGI:1890773	60595
Rat	actinin alpha 4	RGD:61816	63836
Dog	actinin alpha 4	VGNC:37550	484526

Species	Name	OMA	EggNOG	Inparanoid
Chimp	actinin alpha 4
Macaque	actinin alpha 4
Mouse	actinin alpha 4
Rat	actinin alpha 4
Dog	actinin alpha 4

Protein Data Bank (3)

1 – 3 of 3

PDB Structure Id	Ligand	Method	Resolution (Å)	M.W. (kDa)	Pub Year	Title

PDB Structure Id	M.W.	Resolution	Pub Year

Pathways (23)

Reactome (6)

KEGG (8)

PathwayCommons (4)

WikiPathways (5)

Cell-Cell communication (R-HSA-1500931)

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Find Similar Targets

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Cell-Cell communication	121 targets	R-HSA-1500931
Reactome	Hemostasis	666 targets	R-HSA-109582
Reactome	Nephrin family interactions	21 targets	R-HSA-373753
Reactome	Platelet activation, signaling and aggregation	258 targets	R-HSA-76002
Reactome	Platelet degranulation	128 targets	R-HSA-114608

Name	Explore in Pharos	Explore in Source
Cell-Cell communication	121 targets	R-HSA-1500931
Hemostasis	666 targets	R-HSA-109582
Nephrin family interactions	21 targets	R-HSA-373753
Platelet activation, signaling and aggregation	258 targets	R-HSA-76002
Platelet degranulation	128 targets	R-HSA-114608

Gene Ontology Terms (54)

Functions (15)

Components (20)

Processes (19)

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Items per page:

10

1 – 10 of 15

GO Term	Evidence	Assigned by
actin filament binding	Inferred from Direct Assay (IDA)	UniProtKB
chromatin DNA binding	Inferred from Direct Assay (IDA)	UniProtKB
nucleoside binding	Inferred from Direct Assay (IDA)	UniProtKB
RNA polymerase II regulatory region sequence-specific DNA binding	Inferred from Direct Assay (IDA)	UniProtKB
ion channel binding	Inferred from Physical Interaction (IPI)	UniProtKB
nuclear hormone receptor binding	Inferred from Physical Interaction (IPI)	UniProtKB
protein homodimerization activity	Inferred from Physical Interaction (IPI)	UniProtKB
retinoic acid receptor binding	Inferred from Physical Interaction (IPI)	UniProtKB
nuclear receptor transcription coactivator activity	Inferred from Mutant Phenotype (IMP)	UniProtKB
transcription coactivator activity	Inferred from Mutant Phenotype (IMP)	UniProtKB

Protein-Protein Interactions (292)

Explore Interacting Targets

1 – 10 of 292

• See Interactions on String-DB

PDLIM1

Tbio

Novelty: 0.02703639

p_int: 0.92728941

p_ni: 0.07271059

Score: 0.764

Data Source: BioPlex,STRINGDB

ACTN1

Tbio

Novelty: 0.00654004

Score: 0.999

Data Source: STRINGDB

ACTN2

Tbio

Novelty: 0.00615882

Score: 0.998

Data Source: STRINGDB

VCL

Tbio

Novelty: 0.00043107

Score: 0.998

Data Source: STRINGDB

ACTN3

Tbio

Novelty: 0.00375035

Score: 0.986

Data Source: STRINGDB

NPHS1

Tbio

Novelty: 0.00104742

Score: 0.98

Data Source: Reactome,STRINGDB

ITGB1

Tclin

Novelty: 0.00055626

Score: 0.97

Data Source: STRINGDB

KIRREL1

Tbio

Novelty: 0.03216031

Score: 0.967

Data Source: Reactome,STRINGDB

USP6NL

Tbio

Novelty: 0.09667588

Score: 0.964

Data Source: STRINGDB

ZYX

Tbio

Novelty: 0.00375452

Score: 0.964

Data Source: STRINGDB

Publication Statistics

PubMed Score  260.24

PubMed score by year

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PubTator Score  562.2

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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Find similar targets by:

UniProt Keyword Find Similar Targets

3D-structure
Acetylation
Actin-binding
Alternative splicing
Calcium
Cell junction
Complete proteome
Cytoplasm
Cytoskeleton
Disease mutation

GWAS Trait Find Similar Targets

mean platelet volume
platelet count
retinal vasculature measurement

MGI Phenotype Find Similar Targets

cardiovascular system phenotype
cellular phenotype
craniofacial phenotype
digestive/alimentary phenotype
embryo phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype