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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
  • Actin, Alpha Skeletal Muscle 3
  • 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]

CIViC summary for ACTA1 Gene

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 ICos-ICosL Pathway in T-Helper Cell and GPCR Pathway. GO annotations related to this gene include structural constituent of cytoskeleton and myosin binding. An important paralog of this gene is ACTC1.

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

Enhancers for ACTA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G229406 1.5 FANTOM5 Ensembl ENCODE 22.9 +24.5 24523 5.8 PKNOX1 FOXA2 ARID4B ZNF48 GLIS2 GATA2 FOS ZNF263 SP3 MIER2 ACTA1 CCSAP RNU6-180P RN7SKP276
GH01G229252 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +180.4 180443 3.0 FOXA2 ATF1 ARID4B SIN3A FEZF1 ZNF2 FOS ZNF548 DEK SP5 NUP133 ENSG00000269890 TAF5L ABCB10 URB2 ACTA1 HMGN2P19 LOC105373158 CCSAP RAB4A
GH01G229201 1.6 FANTOM5 Ensembl ENCODE 10.4 +230.0 230028 4.3 HDGF PKNOX1 ATF1 CREB3L1 ARID4B SIN3A GLI4 ZNF2 ZNF121 FOS LOC105373158 ENSG00000233920 NUP133 TMEM78 HIST3H3 ACTA1
GH01G229190 1.4 FANTOM5 Ensembl ENCODE 10 +242.6 242560 2.7 PKNOX1 ZNF384 ZNF316 POLR2A SCRT2 NFE2 MAFK NFE2L2 MAFG CEBPB LOC105373158 ACTA1 RNU6-180P RHOU ENSG00000233920
GH01G229258 1.3 Ensembl ENCODE dbSUPER 10.6 +175.7 175681 0.8 CTCF RB1 TEAD4 KLF17 FEZF1 ZNF2 RAD21 ZEB1 TEAD3 SMC3 CCSAP ACTA1 RNU6-180P LOC105373158 ENSG00000237481 PIR41159 LOC102723935
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACTA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACTA1 Gene

229,431,245 bp from pter
229,434,098 bp from pter
2,854 bases
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:
    Recommended name:
    Actin, alpha skeletal muscle
    Protein Accession:
    Secondary Accessions:
    • P02568
    • P99020
    • Q5T8M9

    Protein attributes for ACTA1 Gene

    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.
    • 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.

neXtProt entry for ACTA1 Gene

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


Protein Domains for ACTA1 Gene

Suggested Antigen Peptide Sequences for ACTA1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the actin 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.

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,IEA 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

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

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACTA1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 2
plasma membrane 1
mitochondrion 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:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
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:0010628 positive regulation of gene expression 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

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

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytochalasin B
Thymosin beta4

(5) Tocris Compounds for ACTA1 Gene

Compound Action Cas Number
Cytochalasin B Inhibitor of actin polymerization 14930-96-2
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
Thymosin beta4 Potent actin polymerization regulator 77591-33-4

(8) ApexBio Compounds for ACTA1 Gene

Compound Action Cas Number
CK 666 442633-00-3
CK 869 388592-44-7
Cytochalasin D inhibitor of actin polymerization, selective 22144-77-0
Jasplakinolide 102396-24-7
Latrunculin A 76343-93-6
Phalloidin 17466-45-4
SMIFH2 340316-62-3
Wiskostatin 253449-04-6
genes like me logo Genes that share compounds with ACTA1: view

Drug Products

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:

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for ACTA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACTA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of ACTA1 Gene:


SOURCE GeneReport for Unigene cluster for ACTA1 Gene:


Evidence on tissue expression from TISSUES for ACTA1 Gene

  • Muscle(5)
  • Heart(4.4)
  • Thyroid gland(3.1)
  • Liver(2.2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • kidney
  • stomach
  • pelvis
  • placenta
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ACTA1: view

Primer Products

No data available for Protein tissue co-expression partners and 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
(Monodelphis domestica)
Mammalia ACTA1 35
  • 100 (a)
(Pan troglodytes)
Mammalia ACTA1 34 35
  • 99.38 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 97 (a)
-- 35
  • 91 (a)
(Canis familiaris)
Mammalia ACTA1 34 35
  • 95.49 (n)
(Bos Taurus)
Mammalia ACTA1 34 35
  • 93.81 (n)
(Mus musculus)
Mammalia Acta1 34 16 35
  • 90.89 (n)
(Rattus norvegicus)
Mammalia Acta1 34
  • 90.63 (n)
(Gallus gallus)
Aves ACTA1 34 35
  • 88.51 (n)
(Anolis carolinensis)
Reptilia ACTA1 35
  • 100 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia act3 34
  • 80.81 (n)
(Danio rerio)
Actinopterygii acta1a 35
  • 99 (a)
actc1a 35
  • 99 (a)
zgc:86709 35
  • 99 (a)
hm:zewp0073 35
  • 99 (a)
actc1b 35
  • 98 (a)
acta1b 35 34
  • 86.03 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta Act42A 36
  • 93 (a)
Act5C 36
  • 93 (a)
Act87E 36
  • 93 (a)
Act57B 36
  • 92 (a)
Act79B 36
  • 92 (a)
Act88F 36
  • 92 (a)
Arp53D 36
  • 62 (a)
(Caenorhabditis elegans)
Secernentea act-2 36
  • 94 (a)
act-1 36
  • 93 (a)
act-3 36
  • 93 (a)
act-5 36
  • 90 (a)
F42C5.9 36
  • 27 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G42100 34
  • 69.53 (n)
(Triticum aestivum)
Liliopsida Ta.4344 34
Species where no ortholog for ACTA1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for ACTA1 (if available)
Gene Tree for ACTA1 (if available)

Paralogs for ACTA1 Gene 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
rs121909519 Pathogenic, Nemaline myopathy 3 (NEM3) [MIM:161800] 229,432,723(-) CGAGC(C/T)TCGCG reference, missense
rs121909520 Pathogenic, Nemaline myopathy 3 (NEM3) [MIM:161800] 229,432,660(-) GGCCA(A/G)CCGCG reference, missense
rs121909521 Pathogenic, Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800] 229,433,067(-) GCTCC(C/G)GCCTG reference, missense
rs121909522 Pathogenic, Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800], Nemaline myopathy 3 (NEM3) [MIM:161800] 229,432,393(-) ACAAC(A/G/T)TGCCC reference, missense
rs121909523 Pathogenic, Nemaline myopathy 3 (NEM3) [MIM:161800] 229,432,020(-) CCCGG(A/T)GACGC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv945360 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for ACTA1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for ACTA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, 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
myopathy, scapulohumeroperoneal
  • shpm
congenital fiber-type disproportion
  • cftdm
zebra body myopathy
- elite association - COSMIC cancer census association via MalaCards
Search ACTA1 in MalaCards View complete list of genes associated with diseases


  • 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, ECO:0000269 PubMed:17387733}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, scapulohumeroperoneal (SHPM) [MIM:616852]: An autosomal dominant muscular disorder characterized by progressive muscle weakness with initial scapulo-humeral-peroneal and distal distribution. Over time, muscle weakness progresses to proximal muscle groups. Clinical characteristics include scapular winging, mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, and selective muscle atrophy. Age at onset and disease progression are variable. {ECO:0000269 PubMed:25938801}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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, ECO:0000269 PubMed:17705262, ECO:0000269 PubMed:22442437, ECO:0000269 PubMed:23650303, ECO:0000269 PubMed:25938801}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACTA1

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

No data available for Genatlas for ACTA1 Gene

Publications for ACTA1 Gene

  1. The pathogenesis of ACTA1-related congenital fiber type disproportion. (PMID: 17387733) Clarke N.F. … North K. (Ann. Neurol. 2007) 3 4 22 64
  2. Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. (PMID: 16427282) Hutchinson D.O. … North K.N. (Neuromuscul. Disord. 2006) 3 4 22 64
  3. The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. (PMID: 16501887) Bosch-Comas A. … Marfany G. (Cell. Mol. Life Sci. 2006) 3 4 22 64
  4. 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 22 64
  5. 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 22 64

Products for ACTA1 Gene

Sources for ACTA1 Gene

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