ACTA1 Gene (Protein Coding)

Actin Alpha 1, Skeletal Muscle

GC01M229431
GIFtS:
48
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. ... See more...

Aliases for ACTA1 Gene

Aliases for ACTA1 Gene

  • Actin Alpha 1, Skeletal Muscle 2 3 5
  • Actin, Alpha Skeletal Muscle 3 4
  • Nemaline Myopathy Type 3 2 3
  • ACTA 3 4
  • NEM3 2 3
  • Alpha-Actin-1 4
  • CFTD1 3
  • CFTDM 3
  • ACTA1 5
  • ASMA 3
  • CFTD 3
  • MPFD 3
  • NEM1 3
  • NEM2 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 a variety of myopathies, including nemaline myopathy, 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 with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]

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 Myopathy, Scapulohumeroperoneal and Nemaline Myopathy 3. Among its related pathways are G-Beta Gamma Signaling and Integrin Pathway. Gene Ontology (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 Summary 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

Additional gene information for ACTA1 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTA1 Gene

Genomics for ACTA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ACTA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTA1

Top Transcription factor binding sites by QIAGEN in the ACTA1 gene promoter:
  • aMEF-2
  • AP-1
  • c-Jun
  • MEF-2A

Genomic Locations for ACTA1 Gene

Latest Assembly
chr1:229,431,245-229,434,098
(GRCh38/hg38)
Size:
2,854 bases
Orientation:
Minus strand

Previous Assembly
chr1:229,566,992-229,569,841
(GRCh37/hg19 by Entrez Gene)
Size:
2,850 bases
Orientation:
Minus strand

chr1:229,566,992-229,569,845
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for ACTA1 Gene

Proteins for ACTA1 Gene

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  • 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. Interacts with alpha-actinin (By similarity). Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X (By similarity). Interacts with TTID (PubMed:10958653). Interacts (via its C-terminus) with USP25; the interaction occurs for all USP25 isoforms but is strongest for isoform USP25m in muscle differentiating cells (PubMed:16501887).
    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.

neXtProt entry for ACTA1 Gene

Protein Expression for ACTA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ACTA1 Gene

  • 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 promotes actin repolymerization.
  • 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.
  • Methylated at His-75 by SETD3.
  • (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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for ACTA1 Gene

Domains & Families for ACTA1 Gene

Gene Families for ACTA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ACTA1 Gene

InterPro:

Suggested Antigen Peptide Sequences for ACTA1 Gene

GenScript: Design optimal peptide antigens:
  • Alpha-actin-1 (ACTS_HUMAN)
  • Actin alpha 1 skeletal muscle protein (Q7Z7J6_HUMAN)

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

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Molecular function for ACTA1 Gene

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.
GENATLAS Biochemistry:
actin,alpha 1,skeletal and smooth muscle major constituent of thin filaments

Phenotypes From GWAS Catalog for ACTA1 Gene

Gene Ontology (GO) - Molecular Function for ACTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
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
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTA1

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

COMPARTMENTS
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
cytoskeleton 5
cytosol 5
extracellular 4
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ACTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IBA,IDA 15198992
GO:0005615 extracellular space HDA 23580065
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with ACTA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTA1 Gene

Pathways & Interactions for ACTA1 Gene

PathCards logo

SuperPathways for ACTA1 Gene

SuperPathway Contained pathways
1 Actin Nucleation by ARP-WASP Complex
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
CDC42 Pathway
.41
RhoA Pathway
.35
2 PAK Pathway
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
Epithelial Adherens Junctions
.36
3 VEGF Pathway (Qiagen)
VEGF Family Ligands and Receptor Interactions
.66
VEGF Pathway
.66
CCKBR-Gastrin Stimulated Signaling
.36
4 fMLP Pathway
CCR3 Pathway in Eosinophils
.44
fMLP Pathway
.43
Internalin Pathway
.31
5 Sertoli-Sertoli Cell Junction Dynamics
Germ Cell-Sertoli Cell Junction Dynamics
.38
Sertoli-Sertoli Cell Junction Dynamics
.38
Epithelial Tight Junctions
.36
genes like me logo Genes that share pathways with ACTA1: view

Pathways by source for ACTA1 Gene

8 GeneGo (Thomson Reuters) pathways for ACTA1 Gene
  • Cell adhesion Gap junctions
  • Cell adhesion Tight junctions
  • Cell adhesion_Cadherin-mediated cell adhesion
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Cytoskeleton remodeling_RalA regulation pathway
43 Qiagen pathways for ACTA1 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Agrin Interactions at Neuromuscular Junction
  • Antioxidant Action of Vitamin-C
1 Cell Signaling Technology pathway for ACTA1 Gene

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sucrose Approved, Experimental, Investigational Pharma Target 0
Latrunculin A Experimental Pharma Target, inhibitor Inhibitor of actin assembly and polymerization 0
1-Methylhistidine Experimental Pharma Target 0
Aplyronine A Experimental Pharma Target 0
Jaspisamide A Experimental Pharma Target 0

(4) Additional Compounds for ACTA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for ACTA1 Gene

Compound Action Cas Number
187-1, N-WASP inhibitor N-WASP inhibitor; inhibits actin assembly 380488-27-7
CK 666 Arp2/3 inhibitor; inhibits actin polymerization 442633-00-3
CK 869 Arp2/3 inhibitor; inhibits actin polymerization 388592-44-7
Latrunculin A Inhibitor of actin assembly and polymerization 76343-93-6
Wiskostatin N-WASP inhibitor; inhibits Arp2/3 activation 253449-04-6

(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 for research

Transcripts for ACTA1 Gene

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mRNA/cDNA for ACTA1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTA1

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

No ASD Table

Relevant External Links for ACTA1 Gene

GeneLoc Exon Structure for
ACTA1

Expression for ACTA1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACTA1 Gene

mRNA expression in normal human tissues for ACTA1 Gene
mRNA expression by GTEx for ACTA1 GenemRNA expression by BioGPS 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 and MOPED for ACTA1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTA1

SOURCE GeneReport for Unigene cluster for ACTA1 Gene:

Hs.1288

Evidence on tissue expression from TISSUES for ACTA1 Gene

  • Muscle(5)
  • Heart(4.6)
  • Thyroid gland(3.4)
  • Blood(2.6)
  • Liver(2.6)
  • Nervous system(2.6)
  • Kidney(2.5)
  • Intestine(2.3)
  • Skin(2.2)
  • Lung(2.1)
  • Eye(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
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
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • 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
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ACTA1: view

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
Oppossum
(Monodelphis domestica)
 Mammalia ACTA1 30
  • 100 (a)
 OneToOne
Chimpanzee
(Pan troglodytes)
 Mammalia ACTA1 29 30
  • 99.38 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 97 (a)
 OneToMany
-- 30
  • 91 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia ACTA1 29 30
  • 95.49 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ACTA1 29 30
  • 93.81 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Acta1 29 16 30
  • 90.89 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Acta1 29
  • 90.63 (n)
Chicken
(Gallus gallus)
 Aves ACTA1 29 30
  • 88.51 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ACTA1 30
  • 100 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia act3 29
  • 80.81 (n)
Zebrafish
(Danio rerio)
 Actinopterygii actc1a 30
  • 99 (a)
 ManyToMany
acta1a 30
  • 99 (a)
 ManyToMany
zgc:86709 30
  • 99 (a)
 ManyToMany
hm:zewp0073 30
  • 99 (a)
 ManyToMany
actc1b 30
  • 98 (a)
 ManyToMany
acta1b 29 30
  • 86.03 (n)
 ManyToMany
-- 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Act42A 31
  • 93 (a)
Act5C 31
  • 93 (a)
Act87E 31
  • 93 (a)
Act57B 31
  • 92 (a)
Act79B 31
  • 92 (a)
Act88F 31
  • 92 (a)
Arp53D 31
  • 62 (a)
Worm
(Caenorhabditis elegans)
 Secernentea act-2 31
  • 94 (a)
act-1 31
  • 93 (a)
act-3 31
  • 93 (a)
act-5 31
  • 90 (a)
F42C5.9 31
  • 27 (a)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT2G42100 29
  • 69.53 (n)
Wheat
(Triticum aestivum)
 Liliopsida Ta.4344 29
Species where no ortholog for ACTA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ACTA1: view image
Alliance of Genome Resources:
Additional Orthologs for ACTA1

Paralogs for ACTA1 Gene

Paralogs for ACTA1 Gene

(32) SIMAP similar genes for ACTA1 Gene using alignment to 5 proteins:

  • ACTS_HUMAN
  • A6NL76_HUMAN
  • Q5T8M7_HUMAN
  • Q5T8M8_HUMAN
  • Q7Z7J6_HUMAN

Pseudogenes.org Pseudogenes for ACTA1 Gene

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

Variants for ACTA1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTA1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1003875 Uncertain Significance: Nemaline myopathy 3 229,431,725(-) ATCT/A
NM_001100.4(ACTA1):c.983_985del (p.Lys328del) 		INFRAME_DELETION
1015544 Uncertain Significance: Nemaline myopathy 3 229,432,060(-) G/T
NM_001100.4(ACTA1):c.742C>A (p.Gln248Lys) 		MISSENSE
1018348 Uncertain Significance: Nemaline myopathy 3 229,432,371(-) G/A
NM_001100.4(ACTA1):c.515C>T (p.Ala172Val) 		MISSENSE
1029074 Uncertain Significance: Congenital myopathy with fiber type disproportion 229,433,115(-) T/C
NM_001100.4(ACTA1):c.1A>G (p.Met1Val) 		INITIATIOR_CODON_VARIANT,MISSENSE
1029075 Likely Pathogenic: Nemaline myopathy 3 229,432,659(-) GT/G
NM_001100.4(ACTA1):c.350del (p.Asn117fs) 		FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ACTA1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ACTA1 Gene

Human Gene Mutation Database (HGMD)
ACTA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTA1
Leiden Open Variation Database (LOVD)
ACTA1

SNP Genotyping and Copy Number Assays for research

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

Disorders for ACTA1 Gene

MalaCards: The human disease database

(50) MalaCards diseases for ACTA1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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, ECO:0000269 PubMed:17705262, ECO:0000269 PubMed:22442437, ECO:0000269 PubMed:23650303, ECO:0000269 PubMed:25635128, ECO:0000269 PubMed:25938801}. Note=The disease is caused by variants 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 variants 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for ACTA1

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Publications for ACTA1 Gene

  1. Actin mutations are one cause of congenital fibre type disproportion. (PMID: 15468086) Laing NG … Nonaka I (Annals of neurology 2004) 3 4 22 72
  2. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. (PMID: 10508519) Nowak KJ … Laing NG (Nature genetics 1999) 3 4 22 72
  3. Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. (PMID: 25938801) Zukosky K … Bönnemann CG (JAMA neurology 2015) 3 4 72
  4. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). (PMID: 19562689) Laing NG … Nowak KJ (Human mutation 2009) 3 22 72
  5. The pathogenesis of ACTA1-related congenital fiber type disproportion. (PMID: 17387733) Clarke NF … North K (Annals of neurology 2007) 3 4 22

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