Tbio ACTN3 Alpha-actinin-3

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. This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]

Uniprot Accession IDs

• Q08043
• A6NP77
• Q4KKV2

Gene Name

• ACTN3

Ensembl ID

• ENST00000513398
• ENSP00000426797
• ENSG00000248746

Symbol

• ACTN3D

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.92
interacting protein	0.83
biological term	0.78
PubMedID	0.77
molecular function	0.67

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: 285.03   (req: < 5)

Gene RIFs: 147   (req: <= 3)

Antibodies: 224   (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: 285.03   (req: >= 5)

Gene RIFs: 147   (req: > 3)

Antibodies: 224   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 20

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

Protein Sequence and Structure

Residue Counts

Protein Sequence

Show Full Sequence

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Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Protein-Protein Interactions (162)

Explore Interacting Targets

1 – 10 of 162

• See Interactions on String-DB

PDLIM1

Tbio

Novelty:  0.02703639

p_int:  1

Score:  0.596

Data Source:  BioPlex,STRINGDB

RSPH6A

Tdark

Novelty:  0.03734897

p_int:  0.99999998

p_ni:  1.9e-8

p_wrong:  1e-9

Data Source:  BioPlex

AKAP17A

Tbio

Family:  Enzyme

Novelty:  0.02860381

p_int:  0.999998985

p_ni:  0.000001015

Score:  0.187

Data Source:  BioPlex,STRINGDB

MECOM

Tbio

Family:  TF; Epigenetic

Novelty:  0.00500501

p_int:  0.999998782

p_ni:  0.000001164

p_wrong:  5.4e-8

Data Source:  BioPlex

LZTR1

Tbio

Novelty:  0.02363333

p_int:  0.999990931

p_ni:  0.000009054

p_wrong:  1.5e-8

Data Source:  BioPlex

LRRCC1

Tdark

Novelty:  0.14730953

p_int:  0.999989826

p_ni:  0.000009728

p_wrong:  4.46e-7

Score:  0.224

Data Source:  BioPlex,STRINGDB

TMEM183A

Tdark

Novelty:  0.4017284

p_int:  0.99997705

p_ni:  0.00002067

p_wrong:  0.00000228

Data Source:  BioPlex

BCHE

Tclin

Family:  Enzyme

Novelty:  0.00031267

p_int:  0.999969882

p_ni:  0.000030112

p_wrong:  6e-9

Score:  0.158

Data Source:  BioPlex,STRINGDB

VCL

Tbio

Novelty:  0.00043107

Score:  0.99

Data Source:  STRINGDB

ACTN4

Tbio

Novelty:  0.0040236

Score:  0.986

Data Source:  STRINGDB

Pathways (13)

Reactome (4)

KEGG (1)

PathwayCommons (1)

WikiPathways (7)

Cell-Cell communication (R-HSA-1500931)

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1 – 4 of 4

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Cell-Cell communication	121 targets	R-HSA-1500931
Reactome	Muscle contraction	202 targets	R-HSA-397014
Reactome	Nephrin family interactions	21 targets	R-HSA-373753
Reactome	Striated Muscle Contraction	34 targets	R-HSA-390522

Name	Explore in Pharos	Explore in Source
Cell-Cell communication	121 targets	R-HSA-1500931
Muscle contraction	202 targets	R-HSA-397014
Nephrin family interactions	21 targets	R-HSA-373753
Striated Muscle Contraction	34 targets	R-HSA-390522

Gene Ontology Terms (26)

Functions (6)

Components (6)

Processes (14)

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Items per page:

10

1 – 6 of 6

GO Term	Evidence	Assigned by
ion channel binding	Inferred from Physical Interaction (IPI)	UniProtKB
integrin binding	Traceable Author Statement (TAS)	UniProtKB
protein homodimerization activity	Traceable Author Statement (TAS)	UniProtKB
structural constituent of muscle	Traceable Author Statement (TAS)	ProtInc
actin binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW
calcium ion binding	Inferred from Electronic Annotation (IEA)	InterPro

GWAS Traits (4)

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 4 of 4

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
low density lipoprotein cholesterol measurement	EFO_0004611	3	3	3		70
apolipoprotein B measurement	EFO_0004615	2	2	2		65.7
insomnia measurement	EFO_0007876	1	1	0	1	44.2
BMI-adjusted hip circumference	EFO_0008039	1	1	1		28.1

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 4 of 4

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
low density lipoprotein cholesterol measurement	EFO_0004611	3		70
apolipoprotein B measurement	EFO_0004615	2		65.7
insomnia measurement	EFO_0007876	0	1	44.2
BMI-adjusted hip circumference	EFO_0008039	1		28.1

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Acetylation
Actin-binding
Calcium
Complete proteome
Metal-binding
Polymorphism
Reference proteome
Repeat

GWAS Trait Find Similar Targets

No Header	No Header
apolipoprotein B measurement
BMI-adjusted hip circumference
insomnia measurement
low density lipoprotein cholesterol measurement

MGI Phenotype Find Similar Targets

No Header	No Header
homeostasis/metabolism phenotype
muscle phenotype

Orthologs (8)

1 – 5 of 8

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	actinin alpha 3		713811
Mouse	actinin alpha 3	MGI:99678	11474
Rat	actinin alpha 3	RGD:621792	171009
Dog	actinin alpha 3		483707
Horse	actinin alpha 3		100033871

Species	Name	OMA	EggNOG	Inparanoid
Macaque	actinin alpha 3
Mouse	actinin alpha 3
Rat	actinin alpha 3
Dog	actinin alpha 3
Horse	actinin alpha 3

Publication Statistics

PubMed Score 285.03

PubMed score by year

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PubTator Score 185.09

PubTator score by year

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