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Aliases for ACTA1 Gene

Aliases for ACTA1 Gene

  • Actin, Alpha 1, Skeletal Muscle 2 3 5
  • Nemaline Myopathy Type 3 2 3
  • ACTA 3 4
  • Alpha-Actin-1 4
  • CFTD1 3
  • CFTDM 3
  • ASMA 3
  • CFTD 3
  • MPFD 3
  • NEM1 3
  • NEM2 3
  • NEM3 3
  • SHPM 3

External Ids for ACTA1 Gene

Previous HGNC Symbols for ACTA1 Gene

  • ACTA

Previous GeneCards Identifiers for ACTA1 Gene

  • GC01M228014
  • GC01M225261
  • GC01M225966
  • GC01M226528
  • GC01M225873
  • GC01M227633
  • GC01M229567
  • GC01M200057

Summaries for ACTA1 Gene

Entrez Gene Summary for ACTA1 Gene

  • The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACTA1 Gene

ACTA1 (Actin, Alpha 1, Skeletal Muscle) is a Protein Coding gene. Diseases associated with ACTA1 include nemaline myopathy 3, autosomal dominant or recessive and myopathy, congenital, with fiber-type disproportion. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Development Slit-Robo signaling. GO annotations related to this gene include structural constituent of cytoskeleton and myosin binding. An important paralog of this gene is ACTRT1.

UniProtKB/Swiss-Prot for ACTA1 Gene

  • Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Tocris Summary for ACTA1 Gene

  • Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found in two main states: G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G- and F-actin are intrinsically flexible structures.

Gene Wiki entry for ACTA1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTA1 Gene

Genomics for ACTA1 Gene

Regulatory Elements for ACTA1 Gene

Genomic Location for ACTA1 Gene

Chromosome:
1
Start:
229,431,245 bp from pter
End:
229,434,098 bp from pter
Size:
2,854 bases
Orientation:
Minus strand

Genomic View for ACTA1 Gene

Genes around ACTA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTA1 Gene

Proteins for ACTA1 Gene

  • Protein details for ACTA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P68133-ACTS_HUMAN
    Recommended name:
    Actin, alpha skeletal muscle
    Protein Accession:
    P68133
    Secondary Accessions:
    • P02568
    • P99020
    • Q5T8M9

    Protein attributes for ACTA1 Gene

    Size:
    377 amino acids
    Molecular mass:
    42051 Da
    Quaternary structure:
    • Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X (By similarity). Interacts with TTID. Interacts (via its C-terminus) with USP25; the interaction occurs for all USP25 isoforms but is strongest for isoform USP25m in muscle differentiating cells.
    Miscellaneous:
    • In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.

    Three dimensional structures from OCA and Proteopedia for ACTA1 Gene

neXtProt entry for ACTA1 Gene

Proteomics data for ACTA1 Gene at MOPED

Post-translational modifications for ACTA1 Gene

  • (Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-52 of one monomer and Glu-272 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).
  • Monomethylation at Lys-86 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.
  • Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTA1 Gene

Domains & Families for ACTA1 Gene

Gene Families for ACTA1 Gene

HGNC:

Protein Domains for ACTA1 Gene

Suggested Antigen Peptide Sequences for ACTA1 Gene

Graphical View of Domain Structure for InterPro Entry

P68133

UniProtKB/Swiss-Prot:

ACTS_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTA1: view

Function for ACTA1 Gene

Molecular function for ACTA1 Gene

GENATLAS Biochemistry:
actin,alpha 1,skeletal and smooth muscle major constituent of thin filaments
UniProtKB/Swiss-Prot Function:
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
genes like me logo Genes that share phenotypes with ACTA1: view

Human Phenotype Ontology for ACTA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACTA1 Gene

MGI Knock Outs for ACTA1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for ACTA1 Gene

Localization for ACTA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTA1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACTA1 Gene COMPARTMENTS Subcellular localization image for ACTA1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
mitochondrion 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ACTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 15198992
GO:0005829 cytosol TAS --
GO:0005865 striated muscle thin filament IDA 15198992
GO:0005884 actin filament IDA 12849983
GO:0015629 actin cytoskeleton IMP 15198992
genes like me logo Genes that share ontologies with ACTA1: view

Pathways & Interactions for ACTA1 Gene

genes like me logo Genes that share pathways with ACTA1: view

Gene Ontology (GO) - Biological Process for ACTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 10508519
GO:0009612 response to mechanical stimulus IEA --
GO:0009991 response to extracellular stimulus IEA --
GO:0010226 response to lithium ion IEA --
GO:0090131 mesenchyme migration ISS --
genes like me logo Genes that share ontologies with ACTA1: view

No data available for SIGNOR curated interactions for ACTA1 Gene

Drugs & Compounds for ACTA1 Gene

(19) Drugs for ACTA1 Gene - From: Novoseek, DrugBank, Tocris, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Latrunculin A Experimental Pharma Target, inhibitor Inhibitor of actin assembly and polymerization 0
4-Methyl-Histidine Experimental Pharma Target 0
Aplyronine A Experimental Pharma Target 0
Jaspisamide A Experimental Pharma Target 0
Kabiramide C Experimental Pharma Target 0

(9) Additional Compounds for ACTA1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
187-1, N-WASP inhibitor
380488-27-7
CK 666
442633-00-3
CK 869
388592-44-7
Wiskostatin
253449-04-6
genes like me logo Genes that share compounds with ACTA1: view

Transcripts for ACTA1 Gene

mRNA/cDNA for ACTA1 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(807) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACTA1 Gene

Actin, alpha 1, skeletal muscle:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACTA1 Gene

No ASD Table

Relevant External Links for ACTA1 Gene

GeneLoc Exon Structure for
ACTA1
ECgene alternative splicing isoforms for
ACTA1

Expression for ACTA1 Gene

mRNA expression in normal human tissues for ACTA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACTA1 Gene

This gene is overexpressed in Muscle - Skeletal (x42.6) and Heart - Left Ventricle (x8.1).

Protein differential expression in normal tissues from HIPED for ACTA1 Gene

This gene is overexpressed in Saliva (14.1), Skin (11.2), Brain (10.4), Heart (8.8), Lung (8.1), and Tonsil (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACTA1 Gene



SOURCE GeneReport for Unigene cluster for ACTA1 Gene Hs.1288

genes like me logo Genes that share expression patterns with ACTA1: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ACTA1 Gene

Orthologs for ACTA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACTA1 36
  • 100 (a)
OneToOne
ACTA1 35
  • 99.38 (n)
  • 99.73 (a)
cow
(Bos Taurus)
Mammalia ACTA1 35
  • 93.81 (n)
  • 99.73 (a)
ACTA1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTA1 36
  • 98 (a)
OneToOne
ACTA1 35
  • 95.49 (n)
  • 98.67 (a)
mouse
(Mus musculus)
Mammalia Acta1 16
Acta1 36
  • 100 (a)
OneToOne
Acta1 35
  • 90.89 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia ACTA1 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 97 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Acta1 35
  • 90.63 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves ACTA1 35
  • 88.51 (n)
  • 100 (a)
ACTA1 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACTA1 36
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia act3 35
  • 80.81 (n)
  • 98.41 (a)
zebrafish
(Danio rerio)
Actinopterygii acta1a 36
  • 99 (a)
ManyToMany
acta1b 36
  • 99 (a)
ManyToMany
actc1a 36
  • 99 (a)
ManyToMany
actc1b 36
  • 98 (a)
ManyToMany
hm:zewp0073 36
  • 99 (a)
ManyToMany
zgc:86709 36
  • 99 (a)
ManyToMany
-- 35
acta1b 35
  • 86.03 (n)
  • 98.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta Act42A 37
  • 93 (a)
Act57B 37
  • 92 (a)
Act5C 37
  • 93 (a)
Act79B 37
  • 92 (a)
Act87E 37
  • 93 (a)
Act88F 37
  • 92 (a)
Arp53D 37
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea act-1 37
  • 93 (a)
act-2 37
  • 94 (a)
act-3 37
  • 93 (a)
act-5 37
  • 90 (a)
F42C5.9 37
  • 27 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G42100 35
  • 69.53 (n)
  • 79.36 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.4344 35
Species with no ortholog for ACTA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ACTA1 Gene

ENSEMBL:
Gene Tree for ACTA1 (if available)
TreeFam:
Gene Tree for ACTA1 (if available)

Paralogs for ACTA1 Gene

Pseudogenes.org Pseudogenes for ACTA1 Gene

genes like me logo Genes that share paralogs with ACTA1: view

Variants for ACTA1 Gene

Sequence variations from dbSNP and Humsavar for ACTA1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_062439 Nemaline myopathy 3 (NEM3)
VAR_062440 Nemaline myopathy 3 (NEM3)
VAR_062441 Nemaline myopathy 3 (NEM3)
VAR_062442 Nemaline myopathy 3 (NEM3)
VAR_062443 Nemaline myopathy 3 (NEM3)

Structural Variations from Database of Genomic Variants (DGV) for ACTA1 Gene

Variant ID Type Subtype PubMed ID
dgv543n71 CNV Loss 21882294

Variation tolerance for ACTA1 Gene

Residual Variation Intolerance Score: 18.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACTA1 Gene

HapMap Linkage Disequilibrium report
ACTA1
Human Gene Mutation Database (HGMD)
ACTA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTA1 Gene

Disorders for ACTA1 Gene

MalaCards: The human disease database

(35) MalaCards diseases for ACTA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nemaline myopathy 3, autosomal dominant or recessive
  • myopathy, actin, congenital, with excess of thin myofilaments
myopathy, congenital, with fiber-type disproportion
  • myopathy, congenital, with fiber-type disproportion 1
muscular dystrophy, rigid spine, 1
  • rigid spine syndrome
zebra body myopathy
nemaline myopathy 1, autosomal dominant or recessive
  • cap myopathy 1
- elite association - COSMIC cancer census association via MalaCards
Search ACTA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACTS_HUMAN
  • Nemaline myopathy 3 (NEM3) [MIM:161800]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. {ECO:0000269 PubMed:10508519, ECO:0000269 PubMed:11166164, ECO:0000269 PubMed:11333380, ECO:0000269 PubMed:15198992, ECO:0000269 PubMed:15236405, ECO:0000269 PubMed:15336687, ECO:0000269 PubMed:15520409, ECO:0000269 PubMed:16427282, ECO:0000269 PubMed:16945537}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]: A congenital muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and necrosis are absent. {ECO:0000269 PubMed:10508519}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269 PubMed:15468086}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACTA1

Genetic Association Database (GAD)
ACTA1
Human Genome Epidemiology (HuGE) Navigator
ACTA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACTA1
genes like me logo Genes that share disorders with ACTA1: view

No data available for Genatlas for ACTA1 Gene

Publications for ACTA1 Gene

  1. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha- actin gene mutations. (PMID: 15236405) Agrawal P.B. … Beggs A.H. (Ann. Neurol. 2004) 3 4 23 67
  2. Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. (PMID: 20179953) Tominaga K. … Nishino I. (Acta Neuropathol. 2010) 3 23
  3. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). (PMID: 19562689) Laing N.G. … Nowak K.J. (Hum. Mutat. 2009) 3 23
  4. Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. (PMID: 18976909) Feng J.J. … Marston S. (Neuromuscul. Disord. 2009) 3 23
  5. The pathogenesis of ACTA1-related congenital fiber type disproportion. (PMID: 17387733) Clarke N.F. … North K. (Ann. Neurol. 2007) 3 23

Products for ACTA1 Gene

Sources for ACTA1 Gene

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