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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACTC1
actin alpha cardiac muscle 1
Chromosome 15 · 15q14
NCBI Gene: 70Ensembl: ENSG00000159251.11HGNC: HGNC:143UniProt: B3KPP5
278PubMed Papers
23Diseases
0Drugs
22Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
actin filamentmicrofilament motor activitysarcomereblood microparticlehypertrophic cardiomyopathyatrial septal defect 5hypertrophic cardiomyopathy 11left ventricular noncompaction
✦AI Summary

ACTC1 encodes α-cardiac actin, a sarcomeric thin-filament protein essential for cardiac muscle contraction and myofibril assembly 1. As a highly conserved actin isoform, ACTC1 participates in actin-myosin filament sliding and actomyosin structure organization critical for cardiac function 2. Loss-of-function mutations in ACTC1 are definitively associated with hypertrophic cardiomyopathy (HCM), with 8 sarcomeric genes including ACTC1 classified as having definitive evidence for HCM causation 3. ACTC1 also shows moderate evidence for dilated cardiomyopathy (DCM) susceptibility and is among 12 genes robustly associated with monogenic DCM that explain approximately 17-26% of cases 42. Thin-filament mutations including ACTC1 variants present a distinct HCM phenotype characterized by milder left ventricular hypertrophy but progressive dysfunction and increased heart failure risk compared to thick-filament disease 1. The pathogenic mechanisms involve disrupted sarcomeric architecture and altered cellular mechanics, with emerging evidence that immune dysfunction contributes to adverse remodeling in ACTC1-associated HCM 5. Penetrance of HCM in ACTC1 mutation carriers is incomplete, with male sex and abnormal electrocardiograms predicting higher disease progression risk 6.

Sources cited
1
ACTC1 thin-filament mutations cause HCM with milder hypertrophy but progressive dysfunction and increased heart failure risk
PMID: 25524337
2
ACTC1 classified as definitively associated with HCM among 8 sarcomeric genes
PMID: 30681346
3
ACTC1 variants significantly enriched in DCM patients, explaining 17-26% of cases
PMID: 31983221
4
ACTC1 has moderate evidence for DCM and is classified among 19 high-evidence cardiomyopathy genes
PMID: 33947203
5
ACTC1 mutation carriers show incomplete HCM penetrance with male sex and abnormal ECG as risk factors
PMID: 32731933
6
ACTC1-E99K HCM mouse model exhibits immune dysfunction and cardiac fibrosis relevant to human disease pathogenesis
PMID: 40632839
Disease Associationsⓘ23
hypertrophic cardiomyopathyOpen Targets
0.80Strong
atrial septal defect 5Open Targets
0.76Strong
hypertrophic cardiomyopathy 11Open Targets
0.74Strong
left ventricular noncompactionOpen Targets
0.72Strong
left ventricular noncompaction 4Open Targets
0.64Moderate
Left ventricular noncompaction cardiomyopathyOpen Targets
0.51Moderate
Abnormality of the cardiovascular systemOpen Targets
0.51Moderate
cardiomyopathyOpen Targets
0.48Moderate
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.46Moderate
familial hypertrophic cardiomyopathyOpen Targets
0.43Moderate
dilated cardiomyopathyOpen Targets
0.39Weak
atrial septal defect, ostium secundum typeOpen Targets
0.37Weak
distal arthrogryposisOpen Targets
0.37Weak
familial isolated dilated cardiomyopathyOpen Targets
0.37Weak
mastodyniaOpen Targets
0.33Weak
esophageal diseaseOpen Targets
0.31Weak
arthrogryposisOpen Targets
0.27Weak
genetic disorderOpen Targets
0.27Weak
atrial heart septal defectOpen Targets
0.20Weak
autosomal dominant dilated cardiomyopathyOpen Targets
0.19Weak
Atrial septal defect 5UniProt
Cardiomyopathy, dilated, 1RUniProt
Cardiomyopathy, familial hypertrophic, 11UniProt
Pathogenic Variants22
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)Pathogenic
Left ventricular noncompaction 4|Hypertrophic cardiomyopathy 11|Primary familial hypertrophic cardiomyopathy|not provided|Cardiomyopathy|Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1R
★★★☆2025→ Residue 101
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe)Likely pathogenic
not specified|Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5|Hypertrophic cardiomyopathy 11|Hypertrophic cardiomyopathy
★★★☆2025→ Residue 284
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr)Pathogenic
Primary dilated cardiomyopathy|not provided|Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11
★★☆☆2025→ Residue 289
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)Likely pathogenic
not specified|not provided|Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11|Cardiovascular phenotype
★★☆☆2025→ Residue 128
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)Pathogenic
Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5|Cardiovascular phenotype|Cardiomyopathy
★★☆☆2024→ Residue 247
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp)Likely pathogenic
Primary dilated cardiomyopathy|Inborn genetic diseases
★★☆☆2016→ Residue 185
NM_005159.5(ACTC1):c.830A>G (p.His277Arg)Likely pathogenic
not provided
★☆☆☆2025→ Residue 277
NM_005159.5(ACTC1):c.716A>T (p.Glu239Val)Likely pathogenic
Dilated cardiomyopathy 1R;Atrial septal defect 5;Hypertrophic cardiomyopathy 11
★☆☆☆2025→ Residue 239
NM_005159.5(ACTC1):c.635G>C (p.Arg212Pro)Likely pathogenic
not provided
★☆☆☆2025→ Residue 212
NM_005159.5(ACTC1):c.643A>G (p.Lys215Glu)Likely pathogenic
Atrial septal defect 5
★☆☆☆2025→ Residue 215
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser)Pathogenic
Hypertrophic cardiomyopathy 11|Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11
★☆☆☆2025→ Residue 297
NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)Likely pathogenic
Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5
★☆☆☆2023→ Residue 317
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)Likely pathogenic
Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5
★☆☆☆2022→ Residue 194
NM_005159.5(ACTC1):c.663_679dup (p.Asn227fs)Likely pathogenic
Atrial septal defect 5
★☆☆☆2022→ Residue 227
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr)Likely pathogenic
Dilated cardiomyopathy 1R;Atrial septal defect 5;Hypertrophic cardiomyopathy 11
★☆☆☆2021→ Residue 52
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)Pathogenic
Hypertrophic cardiomyopathy 11|Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11
★☆☆☆2019→ Residue 333
NM_005159.5(ACTC1):c.344A>G (p.Lys115Arg)Likely pathogenic
not provided
★☆☆☆2019→ Residue 115
NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln)Likely pathogenic
not provided
★☆☆☆2016→ Residue 239
NM_005159.5(ACTC1):c.766C>T (p.Arg256Cys)Likely pathogenic
Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5
★☆☆☆→ Residue 256
NM_005159.5(ACTC1):c.1121G>A (p.Arg374His)Likely pathogenic
Arthrogryposis
★☆☆☆→ Residue 374
View on ClinVar ↗
Related Genes
DCTN4Protein interaction100%ACTR1AProtein interaction100%ACTG2Protein interaction99%GCProtein interaction97%TAGLNProtein interaction95%MYBPC3Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Lung
0%
Ovary
0%
Brain
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ACTC1DCTN4ACTR1AACTG2GCTAGLNMYBPC3
PROTEIN STRUCTURE
Preparing viewer…
PDB8GT1 · 1.35 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.51Moderately Constrained
pLIⓘ
0.97Intolerant
Observed/Expected LoF0.30 [0.18–0.51]
RankingsWhere ACTC1 stands among ~20K protein-coding genes
  • #1,300of 20,598
    Most Researched278 · top 10%
  • #2,086of 5,498
    Most Pathogenic Variants22
  • #3,111of 17,882
    Most Constrained (LOEUF)0.51 · top quartile
Genes detectedACTC1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
PMID: 31983221
Circulation · 2020
1.00
2
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
PMID: 33947203
Circulation · 2021
0.90
3
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
PMID: 30681346
Circ Genom Precis Med · 2019
0.80
4
PMID: 20301486
0.70
5
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol · 2024
0.60