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Aliases for ACTA1 Gene

Aliases for ACTA1 Gene

  • Actin, Alpha 1, Skeletal Muscle 2 3
  • Nemaline Myopathy Type 3 2 3
  • CFTD1 3 6
  • ACTA 3 4
  • ASMA 3 6
  • NEM3 3 6
  • Actin, Alpha Skeletal Muscle 3
  • Alpha-Actin-1 4
  • CFTDM 3
  • CFTD 3
  • MPFD 3
  • NEM1 3
  • NEM2 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 myopathy, congenital, with fiber-type disproportion and nemaline myopathy 3, autosomal dominant or recessive. Among its related pathways are Akt Signaling and ERK Signaling. GO annotations related to this gene include structural constituent of cytoskeleton and myosin binding. An important paralog of this gene is ACTB.

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 - a feature vital in actin's role as a dynamic filament network. Actin has four major functions. Firstly, F-actin polymers form microfilaments - polar intracellular 'tracks' for kinesin motor proteins, allowing the transport of vesicles, organelles and other cargo. Actin is a component of the cytoskeleton and links to alpha-actinin, E-cadherin and beta-catenin at adherens junctions. This gives mechanical support to cells and attaches them to each other and the extracellular matrix. In muscle cells, actin-rich thin filaments associate with myosin-rich thick filaments to form actomyosin myofibrils. Using energy from the hydrolysis of ATP, myofibrils undergo cyclic shortening through actin-myosin head interactions, which represents the mechanics of muscle contraction. Finally, actin has a role in cell motility through polymerization and depolymerization of fibrils.

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

  • 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).
  • Ubiquitination at Lys52, Lys63, Lys70, Lys86, Lys115, Lys193, Lys215, Lys317, Lys328, and Lys330
  • Modification sites at PhosphoSitePlus

Other Protein References for ACTA1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTA1 Gene

Domains for ACTA1 Gene

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 :
  • P68133
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTA1: view

No data available for Gene Families for ACTA1 Gene

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

Gene Ontology (GO) - Molecular Function for ACTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 10508519
GO:0005515 protein binding IPI 12849983
GO:0005524 ATP binding TAS 10508519
GO:0017022 myosin binding TAS 10508519
GO:0043531 ADP binding TAS 10508519
genes like me logo Genes that share ontologies with ACTA1: view
genes like me logo Genes that share phenotypes with ACTA1: view

Animal Models for ACTA1 Gene

MGI Knock Outs for ACTA1:

miRNA for ACTA1 Gene

miRTarBase miRNAs that target ACTA1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
extracellular 5
cytosol 4
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:0005615 extracellular space IDA 23580065
GO:0005829 cytosol TAS --
GO:0005865 striated muscle thin filament IDA 15198992
GO:0005884 actin filament IDA 12849983
genes like me logo Genes that share ontologies with ACTA1: view

Pathways 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:0016049 cell growth IEA --
genes like me logo Genes that share ontologies with ACTA1: view

Compounds for ACTA1 Gene

(5) Tocris Compounds for ACTA1 Gene

Compound Action Cas Number
CK 666 Arp2/3 inhibitor; inhibits actin polymerization [442633-00-3]
Cytochalasin D Disrupts actin filament function [22144-77-0]
Jasplakinolide Stabilizes F-actin; promotes actin polymerization [102396-24-7]
Latrunculin A Inhibitor of actin assembly and polymerization [76343-93-6]
Phalloidin Promotes actin polymerization [17466-45-4]

(14) Drugbank Compounds for ACTA1 Gene

(10) Novoseek inferred chemical compound relationships for ACTA1 Gene

Compound -log(P) Hits PubMed IDs
listeriolysin 65 1
proline 40.7 4
phosphatidylinositol-3,4,5-trisphosphate 37.3 2
peptidoglycan 19.4 1
phosphoinositide 19.3 4
genes like me logo Genes that share compounds with ACTA1: view

Transcripts for ACTA1 Gene

mRNA/cDNA for ACTA1 Gene

(807) Selected AceView cDNA sequences:
(8) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(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 (42.6) and Heart - Left Ventricle (8.1).

Integrated Proteomics: protein expression 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 expressions with ACTA1: view

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.38 (n)
  • 99.73 (a)
ACTA1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACTA1 35
  • 93.81 (n)
  • 99.73 (a)
ACTA1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTA1 35
  • 95.49 (n)
  • 98.67 (a)
ACTA1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acta1 35
  • 90.89 (n)
  • 100 (a)
Acta1 16
Acta1 36
  • 100 (a)
OneToOne
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 -- 35
acta1a 36
  • 99 (a)
ManyToMany
acta1b 35
  • 86.03 (n)
  • 98.41 (a)
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
fruit fly
(Drosophila melanogaster)
Insecta Act5C 37
  • 93 (a)
Arp53D 37
  • 62 (a)
Act87E 37
  • 93 (a)
Act57B 37
  • 92 (a)
Act88F 37
  • 92 (a)
Act42A 37
  • 93 (a)
Act79B 37
  • 92 (a)
worm
(Caenorhabditis elegans)
Secernentea act-1 37
  • 93 (a)
act-3 37
  • 93 (a)
act-5 37
  • 90 (a)
F42C5.9 37
  • 27 (a)
act-2 37
  • 94 (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 MAF
rs506388 -- 229,435,314(-) TGACT(A/C)CAAGG upstream-variant-2KB
rs507265 -- 229,435,389(+) ATTTT(A/C)TAGAA upstream-variant-2KB
rs527621 -- 229,432,484(-) CTGAG(A/C)GCCTA intron-variant
rs590994 -- 229,434,957(-) TCAAT(C/T)CCTTT upstream-variant-2KB
rs605428 -- 229,434,057(-) TTCCC(C/T)TCCGC utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv543n71 CNV Loss 21882294

Relevant External Links for ACTA1 Gene

HapMap Linkage Disequilibrium report
ACTA1
Human Gene Mutation Database (HGMD)
ACTA1
Locus Specific Mutation Databases (LSDB)
ACTA1

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

Disorders for ACTA1 Gene

(2) OMIM Diseases for ACTA1 Gene (102610)

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.

(3) University of Copenhagen DISEASES for ACTA1 Gene

(12) Novoseek inferred disease relationships for ACTA1 Gene

Disease -log(P) Hits PubMed IDs
myopathies nemaline 96.2 42
congenital fiber type disproportion 93.6 2
myopathy, congenital 91.1 9
myopathy 74.5 18
scar1 74.1 2

Relevant External Links for ACTA1

GeneTests
ACTA1
GeneReviews
ACTA1
Genetic Association Database (GAD)
ACTA1
Human Genome Epidemiology (HuGE) Navigator
ACTA1
genes like me logo Genes that share disorders with ACTA1: view

Publications for ACTA1 Gene

  1. Nemaline myopathy caused by mutations in the muscle alpha-skeletal- actin gene. (PMID: 11333380) Ilkovski B. … North K.N. (Am. J. Hum. Genet. 2001) 3 4 23
  2. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. (PMID: 10508519) Nowak K.J. … North K.N. (Nat. Genet. 1999) 3 4 23
  3. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. (PMID: 11166164) Jungbluth H. … Muntoni F. (Neuromuscul. Disord. 2001) 3 4 23
  4. Missense mutations of ACTA1 cause dominant congenital myopathy with cores. (PMID: 15520409) Kaindl A.M. … Huebner A. (J. Med. Genet. 2004) 3 4 23
  5. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. (PMID: 15198992) Ilkovski B. … Cooper S.T. (Hum. Mol. Genet. 2004) 3 4 23

Products for ACTA1 Gene

Sources for ACTA1 Gene

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