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ACTN3 actinin alpha 3 (gene/pseudogene) [ Homo sapiens (human) ]

Gene ID: 89, updated on 13-Jan-2019

Summary

Official Symbol
ACTN3provided by HGNC
Official Full Name
actinin alpha 3 (gene/pseudogene)provided by HGNC
Primary source
HGNC:HGNC:165
See related
Ensembl:ENSG00000248746 MIM:102574
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACTN3D
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]
Expression
Biased expression in testis (RPKM 1.6), prostate (RPKM 0.6) and 2 other tissues See more
Orthologs

Genomic context

See ACTN3 in Genome Data Viewer
Location:
11q13.2
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (66546395..66563329)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66314312..66330799)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene skeletal muscle cis-regulatory module in DPP3 intron Neighboring gene dipeptidyl peptidase 3 Neighboring gene Bardet-Biedl syndrome 1 Neighboring gene zinc finger DHHC-type containing 24 Neighboring gene cathepsin F Neighboring gene coiled-coil domain containing 87

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
ACTN3 deficiency
MedGen: C3888204 OMIM: 617749 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

Pathways from BioSystems

  • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Nephrin interactions, organism-specific biosystem (from REACTOME)
    Nephrin interactions, organism-specific biosystemNephrin is a member of the Super-IgG-Molecule family and is most prominently expressed in kidney podocytes. It is a major if not the most important structural component of the slit diaphragm, a modif...
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117002, MGC117005

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding TAS
Traceable Author Statement
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity TAS
Traceable Author Statement
more info
PubMed 
structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
negative regulation of calcineurin-NFAT signaling cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of glycolytic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of oxidative phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of glucose catabolic process to lactate via pyruvate ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of skeletal muscle tissue growth ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of aerobic respiration ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
regulation of the force of skeletal muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
response to denervation involved in regulation of muscle adaptation ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle atrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
transition between fast and slow fiber ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
actin filament TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
focal adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
pseudopodium TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
alpha-actinin-3
Names
F-actin cross-linking protein
actinin, alpha 3
alpha-actinin skeletal muscle

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013304.2 RefSeqGene

    Range
    4922..21410
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001104.4NP_001095.2  alpha-actinin-3 isoform 1

    See identical proteins and their annotated locations for NP_001095.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, coding) represents the protein-coding allele and encodes isoform 1.
    Source sequence(s)
    AJ346025, AK125851, AK303044, AP002748, BC099647, DA915904
    Consensus CDS
    CCDS53663.1
    UniProtKB/Swiss-Prot
    Q08043
    UniProtKB/TrEMBL
    B4DZQ2
    Related
    ENSP00000426797.1, ENST00000513398.1
    Conserved Domains (6) summary
    cd00014
    Location:159264
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00051
    Location:764826
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:409636
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:46144
    CH; Calponin homology (CH) domain
    pfam08726
    Location:831897
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:766825
    EF-hand_7; EF-hand domain pair
  2. NM_001258371.2NP_001245300.2  alpha-actinin-3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate exon in the 5' UTR and coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AJ346025, AK303044, AP002748, BC099647
    Consensus CDS
    CCDS76439.1
    UniProtKB/Swiss-Prot
    Q08043
    UniProtKB/TrEMBL
    A0A087WSZ2, B4DZQ2
    Related
    ENSP00000422007.1, ENST00000502692.5
    Conserved Domains (7) summary
    cd00014
    Location:202307
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00051
    Location:807869
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:452679
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:90187
    CH; Calponin homology (CH) domain
    pfam00435
    Location:331440
    Spectrin; Spectrin repeat
    pfam08726
    Location:874940
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:809868
    EF-hand_7; EF-hand domain pair

RNA

  1. NR_047663.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, non-coding) represents the non-protein coding allele.
    Source sequence(s)
    AJ346025, AK125851, AL043389, AMYH02024979, AP002748, BC099647, BQ575174, BU732652, CX787471, DA827389, DA915904

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    66546395..66563329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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