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Aliases for ACTC1 Gene

Aliases for ACTC1 Gene

  • Actin, Alpha, Cardiac Muscle 1 2 3 5
  • ACTC 3 4
  • Actin, Alpha Cardiac Muscle 1 3
  • Actin, Alpha, Cardiac Muscle 2
  • Alpha-Cardiac Actin 4
  • CMD1R 3
  • CMH11 3
  • LVNC4 3
  • 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 Cardiomyopathy, Familial Hypertrophic, 11 and Cardiomyopathy, Dilated, 1R. Among its related pathways are Development Slit-Robo signaling and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). 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 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

Additional gene information for ACTC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTC1 Gene

Genomics for ACTC1 Gene

GeneHancer (GH) Regulatory Elements for ACTC1 Gene

Promoters and enhancers for ACTC1 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
GH15J034790 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 656.7 +0.3 296 11.6 PKNOX1 RB1 ZFP64 TCF12 GATA2 SCRT2 RCOR1 FOS ATF7 EGR2 ACTC1 ENSG00000259181 LOC101928174
GH15J034718 Enhancer 1.2 Ensembl ENCODE dbSUPER 20.1 +71.5 71462 11.9 RAD21 RFX5 YY1 RCOR1 RXRA CEBPB NR2F2 SP1 MAFF ZNF24 GJD2 ACTC1 LOC101928174 AQR LINC02252
GH15J034708 Enhancer 0.9 ENCODE dbSUPER 17.8 +86.8 86769 2 HDAC1 CTCF ATF1 RAD21 RFX5 CHAMP1 FOSL1 CC2D1A CTBP1 ZNF143 AQR GJD2 ACTC1 HNRNPLP2 LOC101928174 LINC02252
GH15J034836 Enhancer 0.6 ENCODE 11.6 -41.2 -41240 1.3 SMARCC1 JUN OSR2 FOSL1 MAFF JUND POLR2A SMARCC2 EHMT2 NFE2 ACTC1 LOC100132824 GC15P034846 GC15M034809
GH15J034854 Enhancer 0.6 ENCODE 11 -59.3 -59305 1.6 ZSCAN21 JUND ZBTB48 ZNF692 STAT3 CEBPB FOS TCF7L2 ACTC1 GJD2 LOC101928174 ENSG00000259181 ZNF770 LOC100132824 RPL36AP8 AQR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACTC1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ACTC1 Gene

Genomic Locations for ACTC1 Gene
chr15:34,788,096-34,796,139
(GRCh38/hg38)
Size:
8,044 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.
  • (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:

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: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

miRNA for ACTC1 Gene

miRTarBase miRNAs that target ACTC1

Clone Products

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
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 1
endoplasmic reticulum 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 IDA 20962418
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005884 actin filament IDA 16611632
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

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: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 ISS,IEA --
GO:0031032 actomyosin structure organization IEA,ISS --
genes like me logo Genes that share ontologies with ACTC1: view

No data available for SIGNOR curated interactions for ACTC1 Gene

Drugs & Compounds for ACTC1 Gene

(15) Drugs for ACTC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(18) 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 :
(5) Additional mRNA sequences :
(241) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACTC1 Gene

Actin, alpha, cardiac muscle 1:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ACTC1 Gene:

ACTC1

SOURCE GeneReport for Unigene cluster for ACTC1 Gene:

Hs.118127

Evidence on tissue expression from TISSUES for ACTC1 Gene

  • Muscle(4.9)
  • Heart(4.8)
  • Nervous system(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
dog
(Canis familiaris)
Mammalia ACTC 34
  • 100 (a)
OneToOne
ACTC1 33
  • 92.4 (n)
oppossum
(Monodelphis domestica)
Mammalia ACTC1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACTC1 34 33
  • 99.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACTC1 34 33
  • 93.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Actc1 16 34 33
  • 92.4 (n)
rat
(Rattus norvegicus)
Mammalia Actc1 33
  • 90.8 (n)
chicken
(Gallus gallus)
Aves ACTC1 34 33
  • 86.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACTC1 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia actc1 33
  • 88.68 (n)
zebrafish
(Danio rerio)
Actinopterygii acta1a 34
  • 99 (a)
ManyToMany
acta1b 34
  • 99 (a)
ManyToMany
actc1a 34
  • 99 (a)
ManyToMany
hm:zewp0073 34
  • 99 (a)
ManyToMany
actc1b 34
  • 99 (a)
ManyToMany
zgc:86709 34 33
  • 85.68 (n)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ACT7 33
  • 75.86 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6704 33
rice
(Oryza sativa)
Liliopsida Os11g0163100 33
  • 78.07 (n)
Species where no ortholog for ACTC1 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACTC1: view image

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 Variation AA Info Type
rs1027095806 uncertain-significance, Familial restrictive cardiomyopathy, Atrial septal defect, Dilated Cardiomyopathy, Dominant, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy 34,795,584(-) C/A/T 5_prime_UTR_variant
rs1044216458 uncertain-significance, Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Dilated Cardiomyopathy, Dominant 34,789,547(-) A/G 3_prime_UTR_variant
rs1060502821 uncertain-significance, Atrial septal defect 5, Dilated cardiomyopathy 1R, Familial hypertrophic cardiomyopathy 11 34,792,114(-) T/A coding_sequence_variant, missense_variant
rs1060502822 uncertain-significance, Atrial septal defect 5, Dilated cardiomyopathy 1R, Familial hypertrophic cardiomyopathy 11 34,792,417(-) C/T coding_sequence_variant, missense_variant
rs1060502823 uncertain-significance, Atrial septal defect 5, Dilated cardiomyopathy 1R, Familial hypertrophic cardiomyopathy 11 34,794,747(-) G/A coding_sequence_variant, missense_variant

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

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

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

(93) MalaCards diseases for ACTC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, 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
genes like me logo Genes that share disorders with ACTC1: view

No data available for Genatlas for ACTC1 Gene

Publications for ACTC1 Gene

  1. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. (PMID: 20031618) Kaski JP … Elliott PM (Circulation. Cardiovascular genetics 2009) 3 22 44 58
  2. Alpha-cardiac actin mutations produce atrial septal defects. (PMID: 17947298) Matsson H … Dahl N (Human molecular genetics 2008) 3 4 22 58
  3. 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 44 58
  4. Mutations in sarcomere protein genes in left ventricular noncompaction. (PMID: 18506004) Klaassen S … Thierfelder L (Circulation 2008) 3 22 44 58
  5. Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. (PMID: 10966831) Olson TM … Fananapazir L (Journal of molecular and cellular cardiology 2000) 3 4 22 58

Products for ACTC1 Gene

Sources for ACTC1 Gene

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