HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SMYD1
SET and MYND domain containing 1
Chromosome 2 · 2p11.2
NCBI Gene: 150572Ensembl: ENSG00000115593.15HGNC: HGNC:20986UniProt: E9PHG3
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of myoblast differentiationpositive regulation of myotube differentiationheart developmentbladder neck obstructionovarian dysfunctionpathological myopiabreast cancer
✦AI Summary

SMYD1 is a striated muscle-specific histone methyltransferase essential for cardiac and skeletal muscle development 1. As a SET and MYND domain-containing protein, SMYD1 catalyzes mono-, di-, and trimethylation of histone H3 at lysine 4 (H3K4) to activate gene expression, including Isl1 during early heart development through interaction with ASH2L 1. Beyond histone substrates, SMYD1 methylates non-histone proteins including the skeletal muscle transcription factor skNAC at K1975, promoting myoglobin transcription 2, and catalyzes mono-methylation of myosin heavy chain at K35, which is critical for sarcomere assembly and thick filament formation in both zebrafish and human cardiomyocytes 3. SMYD1 also functions as a transcriptional repressor by associating with HDAC and CHD4 to suppress genes involved in glycolysis, hypoxia response, and angiogenesis 14. SMYD1 deletion causes embryonic lethality with severe cardiac structural defects including outflow tract truncation and impaired second heart field expansion 1. Clinically, SMYD1 expression is downregulated in chr2 nicotine exposure 5, and resistance training upregulates SMYD1 to mitigate age-related oxidative and endoplasmic reticulum stress in cardiac tissue 6. SMYD1 overexpression in engineered human pluripotent stem cell-derived cardiomyocytes enhances contractile function and maturation 7, suggesting therapeutic potential for cardiomyopathies and muscle disorders.

Sources cited
1
SMYD1 is a striated muscle-specific histone methyltransferase; deletion causes embryonic lethality with cardiac defects; SMYD1 trimethylates H3K4 to activate Isl1 and associates with HDAC to repress ANF
PMID: 33869215
2
SMYD1 methylates non-histone protein skNAC at K1975 to activate myoglobin transcription; MYND domain mediates substrate targeting
PMID: 37443729
3
SMYD1 catalyzes mono-methylation of myosin heavy chain at K35; methylation is essential for sarcomere assembly and thick filament formation in zebrafish and human cardiomyocytes
PMID: 40972758
4
SMYD1 expression is decreased in humans and rats with chronic nicotine exposure
PMID: 36846236
5
Resistance training upregulates SMYD1 expression and SMYD1 overexpression inhibits oxidative stress and endoplasmic reticulum stress in cardiac tissue
PMID: 38042222
6
SMYD1 overexpression in human pluripotent stem cell-derived ventricular cardiomyocytes increases contractile function
PMID: 31097748
7
SMYD1 interacts with CHD4 to repress common transcriptional programs involved in glycolysis, hypoxia response, and angiogenesis during heart development
PMID: 38619323
Disease Associationsⓘ20
bladder neck obstructionOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.27Weak
pathological myopiaOpen Targets
0.25Weak
breast cancerOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
myocardial infarctionOpen Targets
0.04Suggestive
Peri-ImplantitisOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.03Suggestive
left ventricular noncompactionOpen Targets
0.03Suggestive
congenital heart diseaseOpen Targets
0.03Suggestive
Mobius syndromeOpen Targets
0.03Suggestive
polycystic ovary syndromeOpen Targets
0.03Suggestive
periodontitisOpen Targets
0.02Suggestive
metabolic syndromeOpen Targets
0.02Suggestive
heart failureOpen Targets
0.02Suggestive
neuroinflammatory disorderOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
hypertrophic cardiomyopathyOpen Targets
0.02Suggestive
neurodegenerative diseaseOpen Targets
0.02Suggestive
myopathyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCND2Protein interaction79%HAND2Protein interaction79%IRX1Protein interaction79%SMYD5Protein interaction77%CD8BProtein interaction76%IRX5Protein interaction74%
Tissue Expression6 tissues
Heart
100%
Brain
1%
Lung
0%
Liver
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SMYD1KCND2HAND2IRX1SMYD5CD8BIRX5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NB12
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.72–1.16]
RankingsWhere SMYD1 stands among ~20K protein-coding genes
  • #12,041of 20,598
    Most Researched30
  • #12,064of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedSMYD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Smyd1 Orchestrates Early Heart Development Through Positive and Negative Gene Regulation.
PMID: 33869215
Front Cell Dev Biol · 2021
1.00
2
Sex and diet-dependent gene alterations in human and rat brains with a history of nicotine exposure.
PMID: 36846236
Front Psychiatry · 2023
0.90
3
Lysine Methyltransferase SMYD1 Regulates Myogenesis via skNAC Methylation.
PMID: 37443729
Cells · 2023
0.80
4
SMYD1-mediated mono-methylation of lysine K35 of sarcomeric myosin heavy chain (MHC) regulates sarcomere assembly and homeostasis in zebrafish and human iPSC-derived cardiomyocytes.
PMID: 40972758
J Mol Cell Cardiol · 2025
0.70
5
Resistance training up-regulates Smyd1 expression and inhibits oxidative stress and endoplasmic reticulum stress in the heart of middle-aged mice.
PMID: 38042222
Free Radic Biol Med · 2024
0.60