ACTN3 - actinin alpha 3 Gene

Also Known as ACTN3D

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 89

About ACTN3

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:66,546,395-66,563,334 (from NCBI)

This gene has 3 transcripts (splice variants), 94 orthologues, 36 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 1.6), prostate (RPKM 0.6) and 2 other tissues.

Summary

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]

ACTN3 Products (2)

mRNA	Protein	Name
NM_001104.4	NP_001095.2	alpha-actinin-3 isoform 1
NM_001258371.3	NP_001245300.2	alpha-actinin-3 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11171996	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	19943616	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in focal adhesion assembly	IMP IMP: Inferred from mutant phenotype	16807302	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in focal adhesion	IMP IMP: Inferred from mutant phenotype	16807302	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
alpha-actinin-3	F-actin cross-linking protein

ACTN3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	ACTN3	Q08043	CADPS	Homo sapiens	A2RRN7	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	CADPS	Homo sapiens	A2RRN7	Y2H Array	32296183
Intra	ACTN3	Q08043	RTP5	Homo sapiens	Q14D33	Validated Y2H	32296183
Intra	ACTN3	Q08043	ZNF343	Homo sapiens	Q6P1L6	Validated Y2H	32296183
Intra	ACTN3	Q08043	ZNF343	Homo sapiens	Q6P1L6	Y2H Array	32296183
Intra	ACTN3	Q08043	ZNF343	Homo sapiens	Q6P1L6	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	MAGEA6	Homo sapiens	P43360	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	MAGEA6	Homo sapiens	P43360	Y2H Array	32296183
Intra	ACTN3	Q08043	PKP2	Homo sapiens	Q99959-2	Validated Y2H	32296183
Intra	ACTN3	Q08043	CTAG1A	Homo sapiens	P78358	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	CTAG1A	Homo sapiens	P78358	Y2H Array	32296183
Intra	ACTN3	Q08043	POU6F2	Homo sapiens	P78424	Y2H Array	32296183
Intra	ACTN3	Q08043	POU6F2	Homo sapiens	P78424	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	LHX3	Homo sapiens	Q9UBR4-2	Y2H Array	32296183
Intra	ACTN3	Q08043	LHX3	Homo sapiens	Q9UBR4-2	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	LHX3	Homo sapiens	Q9UBR4-2	Validated Y2H	32296183
Intra	ACTN3	Q08043	SYNPO2L	Homo sapiens	Q9H987-2	Validated Y2H	32296183
Intra	ACTN3	Q08043	CIMIP1	Homo sapiens	Q9H1P6	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	CIMIP1	Homo sapiens	Q9H1P6	Validated Y2H	32296183
Intra	ACTN3	Q08043	CIMIP1	Homo sapiens	Q9H1P6	Y2H Array	32296183
Intra	ACTN3	Q08043	CXCL5	Homo sapiens	P42830	Y2H Array	32296183
Intra	ACTN3	Q08043	CXCL5	Homo sapiens	P42830	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	SOHLH1	Homo sapiens	Q5JUK2	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	SOHLH1	Homo sapiens	Q5JUK2	Validated Y2H	32296183
Intra	ACTN3	Q08043	SOHLH1	Homo sapiens	Q5JUK2	Y2H Array	32296183
Intra	ACTN3	Q08043	NDUFAB1	Homo sapiens	O14561	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	NDUFAB1	Homo sapiens	O14561	Y2H Array	32296183
Intra	ACTN3	Q08043	ATP23	Homo sapiens	Q9Y6H3	Y2H Array	32296183
Intra	ACTN3	Q08043	ATP23	Homo sapiens	Q9Y6H3	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	ATP23	Homo sapiens	Q9Y6H3	Validated Y2H	32296183
Intra	ACTN3	Q08043	PTK6	Homo sapiens	Q13882	Validated Y2H	32296183
Intra	ACTN3	Q08043	HOXD12	Homo sapiens	P35452-2	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	HOXD12	Homo sapiens	P35452-2	Y2H Array	32296183
Intra	ACTN3	Q08043	MICALL2	Homo sapiens	Q8IY33	Validated Y2H	32296183
Intra	ACTN3	Q08043	PPP1R18	Homo sapiens	Q6NYC8	Validated Y2H	32296183
Intra	ACTN3	Q08043	KRT6C	Homo sapiens	P48668	Y2H Array	32296183
Intra	ACTN3	Q08043	KRT6C	Homo sapiens	P48668	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	IVD	Homo sapiens	P26440	Y2H Array	32296183
Intra	ACTN3	Q08043	IVD	Homo sapiens	P26440	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	ACTN4	Homo sapiens	O43707	Y2H Array	32296183
Intra	ACTN3	Q08043	ASB9	Homo sapiens	Q96DX5	Validated Y2H	32296183
Intra	ACTN3	Q08043	C2CD6	Homo sapiens	Q53TS8	Validated Y2H	32296183
Intra	ACTN3	Q08043	ASB9	Homo sapiens	Q96DX5	Y2H Array	32296183
Intra	ACTN3	Q08043	ACTN3	Homo sapiens	Q08043	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	ACTN3	Homo sapiens	Q08043	Validated Y2H	32296183
Intra	ACTN3	Q08043	ASB9	Homo sapiens	Q96DX5	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	CTDSP1	Homo sapiens	Q9GZU7	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	ACTN3	Homo sapiens	Q08043	Y2H Array	32296183
Intra	ACTN3	Q08043	ACTN4	Homo sapiens	O43707	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	MYOT	Homo sapiens	Q9UBF9	Validated Y2H	32296183
Intra	ACTN3	Q08043	TRAF1	Homo sapiens	Q13077	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	TRAF1	Homo sapiens	Q13077	Validated Y2H	32296183
Intra	ACTN3	Q08043	TRAF1	Homo sapiens	Q13077	Y2H Array	32296183
Intra	ACTN3	Q08043	NKAPD1	Homo sapiens	Q6ZUT1	Validated Y2H	32296183
Intra	ACTN3	Q08043	FAM90A1	Homo sapiens	Q86YD7	Validated Y2H	32296183
Intra	ACTN3	Q08043	TRIM29	Homo sapiens	Q14134	Validated Y2H	32296183
Intra	ACTN3	Q08043	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	ACTN3	Q08043	GLIS2	Homo sapiens	Q9BZE0	Validated Y2H	32296183
Intra	ACTN3	Q08043	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	ACTN3	Q08043	HGS	Homo sapiens	O14964	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	HGS	Homo sapiens	O14964	Y2H Array	32296183
Intra	ACTN3	Q08043	ZNF426	Homo sapiens	Q9BUY5	Validated Y2H	32296183
Intra	ACTN3	Q08043	ZNF426	Homo sapiens	Q9BUY5	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	ZNF426	Homo sapiens	Q9BUY5	Y2H Array	32296183
Intra	ACTN3	Q08043	MYOZ1	Homo sapiens	Q9NP98	Validated Y2H	32296183
Intra	ACTN3	Q08043	DDAH2	Homo sapiens	O95865	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	DDAH2	Homo sapiens	O95865	Y2H Array	32296183
Intra	ACTN3	Q08043	CTDSP1	Homo sapiens	Q9GZU7	Y2H Array	32296183
Intra	ACTN3	Q08043	CTDSP1	Homo sapiens	Q9GZU7	Validated Y2H	32296183
Intra	ACTN3	Q08043	ECM1	Homo sapiens	Q16610	Y2H Array	32296183
Intra	ACTN3	Q08043	ECM1	Homo sapiens	Q16610	Y2H Prey Pooling	32296183
Intra	ACTN3	Q08043	ECM1	Homo sapiens	Q16610	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

ACTN3 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P82252	ACTN3 Antibody (YA1997)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P82252A	ACTN3 Antibody (YA1997)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Actn3 Deficiency	Sprinting Performance Alpha-Actinin-3 Deficiency
Bruxism	Sleep Bruxism Sleep-Related Bruxism Bruxism - Teeth Grinding Grinding Teeth Sleep Related Bruxism Teeth Grinding Sleep Related Teeth Grinding
Glycogen Storage Disease V	Mcardle Disease Myophosphorylase Deficiency Glycogen Storage Disease Type V Muscle Glycogen Phosphorylase Deficiency Pygm Deficiency Gsd V Glycogen Storage Disease, Type V Glycogenosis Type V Glycogen Storage Disease Type 5 GSD5 Pygmy Mcardle'S Disease Mcardle Type Glycogen Storage Disease Gsd Type V Pygmy, African Gsdv Gsd 5 Glycogenosis 5 Mcardle Syndrome Muscle Phosphorylase Deficiency Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency Gsd Due To Muscle Glycogen Phosphorylase Deficiency Gsd Type 5 Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency Glycogenosis Type 5 Glycogen Storage Disease 5 Gsd-V Mcardles Disease Storage Disease, Glycogen, Type V
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular
Scoliosis
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS00225	ACTN3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ACTN3	VGNC	VGNC:99537
Mus musculus	ACTN3	MGD	MGI:99678
Bos taurus	ACTN3	VGNC	VGNC:53654
Rattus norvegicus	ACTN3	RGD	RGD:621792
Felis catus	ACTN3	VGNC	VGNC:99807
Canis familiaris	ACTN3	VGNC	VGNC:54902
Others	ACTN3	NCBI