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Aliases for ACTC1 Gene

Aliases for ACTC1 Gene

  • Actin, Alpha, Cardiac Muscle 1 2 3
  • CMD1R 3 6
  • CMH11 3 6
  • LVNC4 3 6
  • ACTC 3 4
  • ASD5 3 6
  • Actin, Alpha Cardiac Muscle 1 3
  • Actin, Alpha, Cardiac Muscle 2
  • Alpha-Cardiac Actin 4

External Ids for ACTC1 Gene

Previous Symbols for ACTC1 Gene

  • ACTC

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 myxoid leiomyosarcoma. Among its related pathways are Cardiac Progenitor Differentiation and Cytoskeletal Signaling. GO annotations related to this gene include ATPase activity and myosin binding. An important paralog of this gene is ACTB.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTC1 Gene

Genomics for ACTC1 Gene

Genomic Location for ACTC1 Gene

Start:
34,788,096 bp from pter
End:
34,796,139 bp from pter
Size:
8,044 bases
Orientation:
Minus strand

Genomic View for ACTC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACTC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTC1 Gene

Regulatory Elements 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

Proteomics data for ACTC1 Gene at MOPED

Post-translational modifications for ACTC1 Gene

  • Monomethylation at Lys-86 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration
  • Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization (By similarity).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys52, Lys63, Lys70, Lys86, Lys115, Lys193, Lys215, Lys293, Lys317, Lys328, and Lys330

Other Protein References for ACTC1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTC1 Gene

Domains for ACTC1 Gene

Protein Domains for ACTC1 Gene

UniProtKB/Swiss-Prot:

ACTC_HUMAN
Family:
  • Belongs to the actin family.:
    • P68032
genes like me logo Genes that share domains with ACTC1: view

No data available for Gene Families for ACTC1 Gene

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

Gene Ontology (GO) - Molecular Function for ACTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0005524 ATP binding 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

Animal Models for ACTC1 Gene

MGI Knock Outs for ACTC1:

miRNA for ACTC1 Gene

miRTarBase miRNAs that target ACTC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for ACTC1 Gene COMPARTMENTS Subcellular localization image for ACTC1 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
cytosol 4

Gene Ontology (GO) - Cellular Components for ACTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005737 cytoplasm IDA 20962418
GO:0005829 cytosol TAS --
GO:0005884 actin filament IDA 16611632
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with ACTC1: view

Pathways for ACTC1 Gene

genes like me logo Genes that share pathways with ACTC1: view

Gene Ontology (GO) - Biological Process for ACTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006915 apoptotic process ISS --
GO:0008152 metabolic process IDA 16611632
GO:0030048 actin filament-based movement IDA 16611632
GO:0030049 muscle filament sliding TAS --
genes like me logo Genes that share ontologies with ACTC1: view

Compounds for ACTC1 Gene

(33) Novoseek inferred chemical compound relationships for ACTC1 Gene

Compound -log(P) Hits PubMed IDs
mucicarmine 62.3 3
s 100 59.5 2
progesterone 58.6 52
reticulin 58.6 4
hematoxylin 58.4 7
genes like me logo Genes that share compounds with ACTC1: view

Transcripts for ACTC1 Gene

mRNA/cDNA for ACTC1 Gene

Unigene Clusters for ACTC1 Gene

Actin, alpha, cardiac muscle 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for ACTC1 Gene

GeneLoc Exon Structure for
ACTC1
ECgene alternative splicing isoforms for
ACTC1

Expression for ACTC1 Gene

mRNA expression in normal human tissues 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 (24.8) and Heart - Atrial Appendage (23.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACTC1 Gene

SOURCE GeneReport for Unigene cluster for ACTC1 Gene Hs.118127

genes like me logo Genes that share expressions with ACTC1: view

Orthologs for ACTC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACTC1 36
  • 99.65 (n)
  • 100 (a)
ACTC1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACTC1 36
  • 93.19 (n)
  • 100 (a)
ACTC1 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTC 37
  • 100 (a)
OneToOne
ACTC1 36
  • 92.4 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Actc1 36
  • 92.4 (n)
  • 100 (a)
Actc1 16
Actc1 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACTC1 37
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Actc1 36
  • 90.8 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves ACTC1 36
  • 86.38 (n)
  • 100 (a)
ACTC1 37
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACTC1 37
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia actc1 36
  • 88.68 (n)
  • 100 (a)
zebrafish
(Danio rerio)
Actinopterygii acta1a 37
  • 99 (a)
ManyToMany
acta1b 37
  • 99 (a)
ManyToMany
actc1a 37
  • 99 (a)
ManyToMany
actc1b 37
  • 99 (a)
ManyToMany
hm:zewp0073 37
  • 99 (a)
ManyToMany
zgc:86709 36
  • 85.68 (n)
  • 99.73 (a)
zgc:86709 37
  • 100 (a)
ManyToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6704 36
thale cress
(Arabidopsis thaliana)
eudicotyledons ACT7 36
  • 75.86 (n)
  • 88.59 (a)
rice
(Oryza sativa)
Liliopsida Os11g0163100 36
  • 78.07 (n)
  • 88.86 (a)
Species with no ortholog for ACTC1:
  • A. gosspyii yeast (Ashbya 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ACTC1 Gene

ENSEMBL:
Gene Tree for ACTC1 (if available)
TreeFam:
Gene Tree for ACTC1 (if available)

Paralogs for ACTC1 Gene

genes like me logo Genes that share paralogs with ACTC1: view

Variants for ACTC1 Gene

Sequence variations from dbSNP and Humsavar for ACTC1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
VAR_012857 Cardiomyopathy, familial hypertrophic 11 (CMH11)
VAR_012858 Cardiomyopathy, familial hypertrophic 11 (CMH11)
VAR_012859 Cardiomyopathy, familial hypertrophic 11 (CMH11)
VAR_012860 Cardiomyopathy, dilated 1R (CMD1R)
VAR_012861 Cardiomyopathy, familial hypertrophic 11 (CMH11)

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

Variant ID Type Subtype PubMed ID
nsv522411 CNV Gain 19592680
nsv457106 CNV Gain 19166990

Relevant External Links for ACTC1 Gene

HapMap Linkage Disequilibrium report
ACTC1
Human Gene Mutation Database (HGMD)
ACTC1
Locus Specific Mutation Databases (LSDB)
ACTC1

Disorders for ACTC1 Gene

(3) OMIM Diseases for ACTC1 Gene (102540)

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.

(3) University of Copenhagen DISEASES for ACTC1 Gene

(92) Novoseek inferred disease relationships for ACTC1 Gene

Disease -log(P) Hits PubMed IDs
myoepithelioma 85.4 7
leiomyosarcoma 84.8 19
stromal tumors 84.2 2
smooth muscle tumor 83.9 6
gastrointestinal stromal tumor 82.2 4

Relevant External Links for ACTC1

GeneTests
ACTC1
GeneReviews
ACTC1
Genetic Association Database (GAD)
ACTC1
Human Genome Epidemiology (HuGE) Navigator
ACTC1
genes like me logo Genes that share disorders with ACTC1: view

Publications for ACTC1 Gene

  1. Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. (PMID: 10966831) Olson T.M. … Fananapazir L. (J. Mol. Cell. Cardiol. 2000) 3 4 23
  2. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. (PMID: 10330430) Mogensen J. … Boerglum A.D. (J. Clin. Invest. 1999) 3 4 23
  3. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. (PMID: 9563954) Olson T.M. … Keating M.T. (Science 1998) 3 4 23
  4. Alpha-cardiac actin mutations produce atrial septal defects. (PMID: 17947298) Matsson H. … Dahl N. (Hum. Mol. Genet. 2008) 3 4 23
  5. Mutations in sarcomere protein genes in left ventricular noncompaction. (PMID: 18506004) Klaassen S. … Thierfelder L. (Circulation 2008) 3 23 49

Products for ACTC1 Gene

Sources for ACTC1 Gene

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