• Navigation
  • Register My DNA Kit
  • Features
  • Pricing
  • FAQ
  • About
  • Labs
  • Login
  • Get started
  1. Home
  2. Genes
  3. ACTC1

ACTC1 (Actin, alpha, cardiac muscle 1)

Loading...

Summary of ACTC1

ACTC1 encode actins, which are highly conserved proteins that are involved in various types of cell movement. It is present in muscle to help contraction (R). 

Mutations of this gene can cause heart problems (R). 

0 users want this gene increased, 0 users want it decreased

The Function of ACTC1

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

Protein names

Recommended name:

Actin, alpha cardiac muscle 1

Alternative name(s):

Alpha-cardiac actin

ACTC1 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1370154 (ACTC1) ??
  2. RS2070664 (ACTC1) ??
  3. RS533021 (ACTC1) ??
  4. RS589759 (ACTC1) ??
  5. RS670957 (ACTC1) ??

Top Gene-Substance Interactions

ACTC1 Interacts with These Diseases

Disease Score

Substances That Increase ACTC1

Substances Interaction Organism Category

Substances That Decrease ACTC1

Substances Interaction Organism Category

Advanced Summary

ACTC1: ACTC, actin, alpha, cardiac muscle 1, smooth muscle actin

Gene Type: protein coding

 

General Information:

  • Actin are very abundant types of proteins that exist the most in eukaryotic cells that participate in cell motility [R].

  • ACTC1 exists in house mouses, Norway rats, chickens, tropical clawed frogs, cattle, African clawed frog, dogs, dolphins, sheep, domestic cats, and many more. But this summary of the gene will be based on Homo sapiens, humans.

  • 3 groups of actin isoforms are associated with the protein encoded by ACTC1 [R]

    • Alpha

    • Beta

    • Gamma

  • Some defects of ACTC1 are associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC) [R2].

    • IDC: This disease is actually called cardiomyopathy, but because its cause is can’t be determined for more than 50% of the time, the title idiopathic comes into play.

      • Some causes of IDC are genetics, congenital heart defects, exposure to toxins, hypertension, and diabetes [R3].  

    • FHC: A heart condition caused by thickening of heart muscle [https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy].  

Phenotype-Inheritance:

  • Cardiomyopathy, dilated- autosomal dominant

    • No relationship between actin dysfunction leading to heart failure was found with Olsens’ examination of IDC patients with a mutation of ACTC gene. Some races or cultures showed only some families with the mutated gene to affect the skeletal/ cardiac actin genes [R4].

  • Left ventricular noncompaction- autosomal dominant

  • Cardiomyopathy, hypertrophic- autosomal dominant

  • Atrial septal defect

Function/ Mutations:

  • ACTC1 is a gene responsible for proteins in muscle cells.

  • This gene is a predominant isoform in human donor hearts, as well as early skeletal muscle development [R5].

  • The ACTC gene is found in skeletal muscles is also the same gene that makes ACTC mRNA in the heart [R5].

    • Mutations of this gene cause diseases like hypertrophic cardiomyopathy, and like others like stated above.

    • However, tests have concluded that lower levels of ACTC1 may lead to ASD (atrial septal defect) without showing particular signs of cardiomyopathy [R6].

ACTC mutations are also the case of atrial septal defects [R5].

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • p53
  • Pax-3
  • C/EBPalpha
  • Sp1
  • IRF-1
  • IRF-2

Gene Pathways:

  • Regulation of actin cytoskeleton
  • Adherens junction
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Bacterial invasion of epithelial cells
  • Leukocyte transendothelial migration
  • Tight junction
  • Dilated cardiomyopathy
  • Hypertrophic cardiomyopathy (HCM)
  • Phagosome
  • Cardiac muscle contraction
  • Muscle contraction
  • Viral myocarditis

Molecular Function:

  • Atpase Activity
  • Atp Binding
  • Myosin Binding

Biological Processes:

  • Actin Filament-Based Movement
  • Actin-Myosin Filament Sliding
  • Actomyosin Structure Organization
  • Apoptotic Process
  • Cardiac Muscle Contraction
  • Cardiac Muscle Tissue Morphogenesis
  • Cardiac Myofibril Assembly
  • Heart Contraction
  • Mesenchyme Migration
  • Muscle Filament Sliding
  • Negative Regulation Of Apoptotic Process
  • Positive Regulation Of Gene Expression
  • Response To Ethanol
  • Skeletal Muscle Thin Filament Assembly
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| actin alpha 1| actin, alpha skeletal muscle| Actin, muscle| beta actin| actc1| Actin, alpha skeletal muscle B| alpha actin| alpha-cardiac actin| ACTC| A306_08056| acta1b| Actc-1| actin alpha cardiac| actin, alpha, cardiac 1| actin, alpha cardiac muscle 1| actin, alpha cardiac muscle 1 proprotein| actna1| Alpha-actin-1 B| alpha-actin cardiac| alphac-actin| alpha cardiac actin| AS27_00452| AS28_08009| ASD5| cardiac actin| cardiac alpha actin| cardiac muscle alpha actin 1| CB1_002341003| CMD1R| CMH11| D623_10022188| EGK_17324| EH28_05818| fast myotomal muscle actin| H920_05522| LVNC4| M91_16478| M959_13300| N300_02027| N301_02081| N302_01722| N303_10573| N305_00374| N306_03483| N308_12031| N309_10183| PAL_GLEAN10023646| TREES_T100012884| UY3_16148| Y1Q_029334| Z169_06473

Policies

  • Terms of Service
  • Platform Consent
  • Privacy Policy
  • Disclaimer

About

  • Customer Support
  • Our Team
  • Affiliate Program

Navigation

  • Homepage
  • DNA Wellness Reports
  • Personalized Genetics Blog
  • Register your DNA Test Kit
  • Login
  • Careers
GET STARTED
  • SelfDecode is a personalized health report service, which enables users to obtain detailed information and reports based on their genome. SelfDecode does not treat, diagnose or cure any conditions, but is for informational and educational purposes alone.
SelfDecode © 2021 All Rights Reserved