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ACTA1 Gene(Protein Coding)

Actin, Alpha 1, Skeletal Muscle

GCID:
GC01M229431
GIFtS:
57
Genes Participants
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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 Myopathy, Scapulohumeroperoneal and Nemaline Myopathy 3. Among its related pathways are PAK Pathway and Apoptosis and survival Caspase cascade. 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 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 , fRNAdb sequence ontologies and piRNA Summary for ACTA1 Gene

Genomics for ACTA1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ACTA1 Gene

Promoters and enhancers for ACTA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01I229430 Promoter/Enhancer 1.7 EPDnew FANTOM5 ENCODE dbSUPER 550.8 +0.1 144 6.3 HDAC1 RB1 ARID4B SIN3A THRB ZSCAN9 ZNF766 ARID2 ZNF143 HMG20B PIR46413 ACTA1 HMGN2P19 RNU6-180P CCSAP
GH01I229406 Enhancer 1.3 FANTOM5 Ensembl ENCODE 22.9 +24.5 24523 5.8 FOXA2 ARID4B SIN3A ZNF48 GLIS2 GATA2 FOS SP3 MIER2 REST RN7SKP276 ACTA1 CCSAP RNU6-180P GC01M229362 GC01P229362
GH01I229341 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.4 +91.2 91199 3.8 ARNT ARID4B SIN3A FEZF1 ZNF2 POLR2B ZNF207 ZNF143 SP3 SP5 CCSAP NUP133 HIST3H3 URB2 RNU6-180P ACTA1 TMEM78 GC01M228906
GH01I229252 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +180.4 180443 3 FOXA2 ARID4B SIN3A FEZF1 ZNF2 ZNF213 FOS DEK SP5 TSHZ1 NUP133 ENSG00000269890 HMGN2P19 TAF5L ACTA1 ENSG00000226920 ABCB10 DUSP5P1 LOC105373158 CCSAP
GH01I229201 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.4 +230.0 230028 4.3 ELF3 PKNOX1 ATF1 RAD21 ZSCAN9 EGR1 SCRT2 FOS ATF7 CREM LOC105373158 ENSG00000233920 URB2 TMEM78 ACTA1 HIST3H3 GC01M228906
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACTA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACTA1 gene promoter:

Genomic Locations for ACTA1 Gene

Genomic Locations for ACTA1 Gene
chr1:229,431,245-229,434,098
(GRCh38/hg38)
Size:
2,854 bases
Orientation:
Minus strand
chr1:229,566,992-229,569,845
(GRCh37/hg19)

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. 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.

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

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

Protein Domains for ACTA1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACTA1 Gene

GenScript: Design optimal peptide antigens:

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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 HDA,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

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

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

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  1. Drug

(27) 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
4-Methyl-Histidine Experimental Pharma Target 0
Aplyronine A Experimental Pharma Target 0
Jaspisamide A Experimental Pharma Target 0

(6) 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

Transcripts for ACTA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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:

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
ACTA1
ECgene alternative splicing isoforms for
ACTA1

Expression for ACTA1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for ACTA1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ACTA1 Gene:

ACTA1

SOURCE GeneReport for Unigene cluster for ACTA1 Gene:

Hs.1288

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
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 34
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia ACTA1 33 34
  • 99.38 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 97 (a)
 OneToMany
-- 34
  • 91 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia ACTA1 33 34
  • 95.49 (n)
cow
(Bos Taurus)
 Mammalia ACTA1 33 34
  • 93.81 (n)
mouse
(Mus musculus)
 Mammalia Acta1 33 16 34
  • 90.89 (n)
rat
(Rattus norvegicus)
 Mammalia Acta1 33
  • 90.63 (n)
chicken
(Gallus gallus)
 Aves ACTA1 33 34
  • 88.51 (n)
lizard
(Anolis carolinensis)
 Reptilia ACTA1 34
  • 100 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia act3 33
  • 80.81 (n)
zebrafish
(Danio rerio)
 Actinopterygii acta1a 34
  • 99 (a)
 ManyToMany
actc1a 34
  • 99 (a)
 ManyToMany
hm:zewp0073 34
  • 99 (a)
 ManyToMany
zgc:86709 34
  • 99 (a)
 ManyToMany
actc1b 34
  • 98 (a)
 ManyToMany
acta1b 33 34
  • 86.03 (n)
-- 33
fruit fly
(Drosophila melanogaster)
 Insecta Act42A 35
  • 93 (a)
Act5C 35
  • 93 (a)
Act87E 35
  • 93 (a)
Act57B 35
  • 92 (a)
Act79B 35
  • 92 (a)
Act88F 35
  • 92 (a)
Arp53D 35
  • 62 (a)
worm
(Caenorhabditis elegans)
 Secernentea act-2 35
  • 94 (a)
act-1 35
  • 93 (a)
act-3 35
  • 93 (a)
act-5 35
  • 90 (a)
F42C5.9 35
  • 27 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT2G42100 33
  • 69.53 (n)
wheat
(Triticum aestivum)
 Liliopsida Ta.4344 33
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

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

Paralogs for ACTA1 Gene

Paralogs for ACTA1 Gene

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

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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Sequence variations from dbSNP and Humsavar for ACTA1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057519311 likely-pathogenic, uncertain-significance, Nemaline myopathy 3, not specified 229,432,365(-) G/A/C coding_sequence_variant, missense_variant
rs1057521118 likely-pathogenic, uncertain-significance, not provided, Nemaline myopathy 3 229,432,126(-) C/G coding_sequence_variant, missense_variant
rs1064794287 pathogenic, Nemaline myopathy 3, not provided 229,432,333(-) G/A/T coding_sequence_variant, missense_variant
rs111812550 pathogenic, Nemaline myopathy 3 229,432,269(-) C/G/T splice_donor_variant
rs11803533 benign, likely-benign, not specified, Congenital fiber-type disproportion, Nemaline myopathy, Familial restrictive cardiomyopathy 229,432,885(-) A/G intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACTA1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for ACTA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- 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
  • 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.

Additional Disease Information for ACTA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 NF … North K (Annals of neurology 2007) 3 4 22 58
  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 DO … North KN (Neuromuscular disorders : NMD 2006) 3 4 22 58
  3. The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. (PMID: 16501887) Bosch-Comas A … Marfany G (Cellular and molecular life sciences : CMLS 2006) 3 4 22 58
  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 ST (Human molecular genetics 2004) 3 4 22 58
  5. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. (PMID: 15236405) Agrawal PB … Beggs AH (Annals of neurology 2004) 3 4 22 58

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