Actins are highly conserved proteins that are involved in various types of cell motility. 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 four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, ... See more...

Aliases for ACTC1 Gene

Aliases for ACTC1 Gene

  • Actin Alpha Cardiac Muscle 1 2 3 5
  • Actin, Alpha Cardiac Muscle 1 3 4
  • CMD1R 2 3
  • ACTC 3 4
  • Actin, Alpha, Cardiac Muscle 2
  • Alpha-Cardiac Actin 4
  • CMH11 3
  • LVNC4 3
  • ACTC1 5
  • ASD5 3

External Ids for ACTC1 Gene

Previous HGNC Symbols for ACTC1 Gene

  • ACTC

Previous GeneCards Identifiers for ACTC1 Gene

  • GC15M032870
  • GC15M035080
  • GC15M011925

Summaries for ACTC1 Gene

Entrez Gene Summary for ACTC1 Gene

  • Actins are highly conserved proteins that are involved in various types of cell motility. 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 four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]

GeneCards Summary for ACTC1 Gene

ACTC1 (Actin Alpha Cardiac Muscle 1) is a Protein Coding gene. Diseases associated with ACTC1 include Atrial Septal Defect 5 and Cardiomyopathy, Familial Hypertrophic, 11. Among its related pathways are Development Slit-Robo signaling and Dilated cardiomyopathy (DCM). Gene Ontology (GO) annotations related to this gene include ATPase activity and myosin binding. An important paralog of this gene is ACTG2.

UniProtKB/Swiss-Prot Summary for ACTC1 Gene

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

Gene Wiki entry for ACTC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTC1 Gene

Genomics for ACTC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACTC1 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 ACTC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTC1

Top Transcription factor binding sites by QIAGEN in the ACTC1 gene promoter:
  • FOXL1
  • FOXO1
  • FOXO1a
  • MyoD
  • Pax-3
  • STAT3

Genomic Locations for ACTC1 Gene

Genomic Locations for ACTC1 Gene
chr15:34,790,230-34,795,549
(GRCh38/hg38)
Size:
5,320 bases
Orientation:
Minus strand
chr15:35,080,297-35,088,340
(GRCh37/hg19)
Size:
8,044 bases
Orientation:
Minus strand

Genomic View for ACTC1 Gene

Genes around ACTC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTC1 Gene

Proteins for ACTC1 Gene

  • Protein details for ACTC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P68032-ACTC_HUMAN
    Recommended name:
    Actin, alpha cardiac muscle 1
    Protein Accession:
    P68032
    Secondary Accessions:
    • P04270

    Protein attributes for ACTC1 Gene

    Size:
    377 amino acids
    Molecular mass:
    42019 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.
    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 ACTC1 Gene

Post-translational modifications for ACTC1 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 (K86me1) 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 ACTC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTC1 Gene

Domains & Families for ACTC1 Gene

Gene Families for ACTC1 Gene

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

Protein Domains for ACTC1 Gene

Suggested Antigen Peptide Sequences for ACTC1 Gene

GenScript: Design optimal peptide antigens:
  • Alpha-cardiac actin (ACTC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P68032

UniProtKB/Swiss-Prot:

ACTC_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTC1: view

Function for ACTC1 Gene

Molecular function for ACTC1 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.

Phenotypes From GWAS Catalog for ACTC1 Gene

Gene Ontology (GO) - Molecular Function for ACTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IEA,IDA 16611632
GO:0016887 ATPase activity IDA 16611632
GO:0017022 myosin binding IPI 16611632
genes like me logo Genes that share ontologies with ACTC1: view
genes like me logo Genes that share phenotypes with ACTC1: view

Human Phenotype Ontology for ACTC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACTC1 Gene

MGI Knock Outs for ACTC1:

Animal Model Products

CRISPR Products

miRNA for ACTC1 Gene

miRTarBase miRNAs that target ACTC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ACTC1 Gene

Localization for ACTC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTC1 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 ACTC1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 4
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ACTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005737 cytoplasm IEA,IDA 20962418
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005869 dynactin complex IBA 21873635
genes like me logo Genes that share ontologies with ACTC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTC1 Gene

Pathways & Interactions for ACTC1 Gene

PathCards logo

SuperPathways for ACTC1 Gene

SuperPathway Contained pathways
1 Dilated cardiomyopathy (DCM)
2 Development Slit-Robo signaling
.44
.30
3 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.32
4 Delta508-CFTR traffic / ER-to-Golgi in CF
.32
.31
5 Cytoskeletal Signaling
genes like me logo Genes that share pathways with ACTC1: view

Pathways by source for ACTC1 Gene

8 GeneGo (Thomson Reuters) pathways for ACTC1 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
1 Qiagen pathway for ACTC1 Gene
  • HOP Signaling
1 Cell Signaling Technology pathway for ACTC1 Gene

SIGNOR curated interactions for ACTC1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ACTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IBA 21873635
GO:0010628 positive regulation of gene expression ISS --
GO:0030048 actin filament-based movement IDA 16611632
GO:0030049 muscle filament sliding TAS --
GO:0030240 skeletal muscle thin filament assembly IEA,ISS --
genes like me logo Genes that share ontologies with ACTC1: view

Drugs & Compounds for ACTC1 Gene

(14) Drugs for ACTC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(19) Additional Compounds for ACTC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ACTC1: view

Transcripts for ACTC1 Gene

mRNA/cDNA for ACTC1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTC1

Alternative Splicing Database (ASD) splice patterns (SP) for ACTC1 Gene

No ASD Table

Relevant External Links for ACTC1 Gene

GeneLoc Exon Structure for
ACTC1

Expression for ACTC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACTC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACTC1 Gene

This gene is overexpressed in Heart - Left Ventricle (x24.8) and Heart - Atrial Appendage (x23.2).

Protein differential expression in normal tissues from HIPED for ACTC1 Gene

This gene is overexpressed in Heart (27.4), Saliva (9.2), Skin (8.2), and Brain (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACTC1 Gene



Protein tissue co-expression partners for ACTC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTC1

SOURCE GeneReport for Unigene cluster for ACTC1 Gene:

Hs.118127

Evidence on tissue expression from TISSUES for ACTC1 Gene

  • Heart(5)
  • Muscle(4.9)
  • Nervous system(3.3)
  • Kidney(2.9)
  • Blood(2.7)
  • Intestine(2.5)
  • Liver(2.5)
  • Skin(2.3)
  • Lung(2.2)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with ACTC1: view

No data available for mRNA Expression by UniProt/SwissProt for ACTC1 Gene

Orthologs for ACTC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTC1 Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia ACTC1 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ACTC 31
  • 100 (a)
OneToOne
ACTC1 30
  • 92.4 (n)
Chimpanzee
(Pan troglodytes)
Mammalia ACTC1 30 31
  • 99.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACTC1 30 31
  • 93.19 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Actc1 30 17 31
  • 92.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Actc1 30
  • 90.8 (n)
Chicken
(Gallus gallus)
Aves ACTC1 30 31
  • 86.38 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACTC1 31
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia actc1 30
  • 88.68 (n)
Zebrafish
(Danio rerio)
Actinopterygii acta1a 31
  • 99 (a)
ManyToMany
acta1b 31
  • 99 (a)
ManyToMany
actc1a 31
  • 99 (a)
ManyToMany
hm:zewp0073 31
  • 99 (a)
ManyToMany
actc1b 31
  • 99 (a)
ManyToMany
zgc:86709 30 31
  • 85.68 (n)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ACT7 30
  • 75.86 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6704 30
Rice
(Oryza sativa)
Liliopsida Os11g0163100 30
  • 78.07 (n)
Species where no ortholog for ACTC1 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ACTC1 Gene

ENSEMBL:
Gene Tree for ACTC1 (if available)
TreeFam:
Gene Tree for ACTC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACTC1: view image

Paralogs for ACTC1 Gene

Variants for ACTC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTC1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
636464 Uncertain Significance: not provided 34,793,388(-) G/A MISSENSE_VARIANT
636820 Uncertain Significance: not provided 34,792,240(-) A/G MISSENSE_VARIANT
642074 Uncertain Significance: Atrial septal defect 5; Dilated cardiomyopathy 1R; Familial hypertrophic cardiomyopathy 11 34,794,706(-) A/C MISSENSE_VARIANT
642187 Uncertain Significance: Atrial septal defect 5; Dilated cardiomyopathy 1R; Familial hypertrophic cardiomyopathy 11 34,792,191(-) G/A MISSENSE_VARIANT
644014 Uncertain Significance: Atrial septal defect 5; Dilated cardiomyopathy 1R; Familial hypertrophic cardiomyopathy 11 34,791,169(-) GC/A FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for ACTC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACTC1 Gene

Variant ID Type Subtype PubMed ID
esv3569431 CNV gain 25503493
nsv457106 CNV gain 19166990
nsv522411 CNV gain 19592680
nsv569133 CNV gain 21841781
nsv569153 CNV gain 21841781
nsv977697 CNV duplication 23825009

Variation tolerance for ACTC1 Gene

Residual Variation Intolerance Score: 25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.09; 1.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTC1 Gene

Human Gene Mutation Database (HGMD)
ACTC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTC1 Gene

Disorders for ACTC1 Gene

MalaCards: The human disease database

(138) MalaCards diseases for ACTC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACTC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACTC_HUMAN
  • Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:9563954}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:10330430, ECO:0000269 PubMed:10966831, ECO:0000269 PubMed:14729850, ECO:0000269 PubMed:18403758}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atrial septal defect 5 (ASD5) [MIM:612794]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. {ECO:0000269 PubMed:17947298}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ACTC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ACTC1: view

No data available for Genatlas for ACTC1 Gene

Publications for ACTC1 Gene

  1. Shared genetic causes of cardiac hypertrophy in children and adults. (PMID: 18403758) Morita H … Seidman CE (The New England journal of medicine 2008) 3 4 23 41
  2. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. (PMID: 20031618) Kaski JP … Elliott PM (Circulation. Cardiovascular genetics 2009) 3 23 41
  3. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PMID: 19293840) Møller DV … Køber L (European journal of human genetics : EJHG 2009) 3 23 41
  4. Alpha-cardiac actin mutations produce atrial septal defects. (PMID: 17947298) Matsson H … Dahl N (Human molecular genetics 2008) 3 4 23
  5. Mutations in sarcomere protein genes in left ventricular noncompaction. (PMID: 18506004) Klaassen S … Thierfelder L (Circulation 2008) 3 23 41

Products for ACTC1 Gene

  • Signalway ELISA kits for ACTC1
  • Signalway Proteins for ACTC1

Sources for ACTC1 Gene