SMYD1: SET and MYND Domain Containing 1
A histone methyltransferase critical for cardiac and skeletal muscle development
Gene Information Card
| Symbol | SMYD1 |
|---|---|
| Full Name | SET and MYND Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 150572 ncbi.nlm.nih.gov/gene/150572 |
| Ensembl ID | ENSG00000115594 |
| UniProt ID | Q8NB12 |
| OMIM ID | 608831 |
| HGNC ID | 20251 |
| Aliases | BOP, ZMYND22, FLJ21047 |
Description
SMYD1 (SET and MYND Domain Containing 1) encodes a histone methyltransferase that specifically methylates histone H3 at lysine 4 (H3K4me3) and is essential for cardiac and skeletal muscle development. It acts as a transcriptional co-repressor or activator depending on context, and is predominantly expressed in heart and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy | Loss-of-function mutations impair cardiac development and contractility | ClinVar, OMIM |
| Congenital heart defects | SMYD1 deficiency disrupts myofibril organization and heart morphogenesis | NCBI Gene, PubMed |
| Skeletal muscle myopathy | Reduced SMYD1 expression leads to impaired muscle differentiation and regeneration | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 38.7 | High |
| Testis | 2.1 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 52.3 | High expression |
| Skeletal muscle myoblasts (C2C12) | 41.5 | Differentiation-dependent |
| HeLa | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, loss of function |
| c.103C>T (p.Arg35Trp) | Missense | <0.01% | Impaired methyltransferase activity |
| c.487_489del (p.Lys163del) | Deletion | Rare | Frameshift, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most SMYD1 mutations result in loss of methyltransferase activity or protein stability, leading to impaired muscle development.
Gain of Function (GOF)
No gain-of-function mutations reported in SMYD1.
Dominant Negative (DN)
No dominant-negative mutations reported in SMYD1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • zinc ion binding (GO:0008270) | • histone-lysine N-methyltransferase activity (GO:0018024) |
| • identical protein binding (GO:0042802) | • negative regulation of transcription (GO:0045892) |
| • histone H3-K4 methylation (GO:0051568) | • heart contraction (GO:0060047) |
| • skeletal muscle organ development (GO:0060538) |
Pathways
• Histone methylation
• Cardiac muscle contraction
• Skeletal muscle differentiation
Protein Summary
SMYD1 is a 490-amino acid protein containing a SET domain and a MYND-type zinc finger. It functions as a histone methyltransferase that catalyzes H3K4me3, regulating gene expression during cardiac and skeletal myogenesis. The protein localizes to the nucleus and is essential for myofibril assembly and heart morphogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMYD1 Knockout HEK293 Cell Line | EDJ-KQ11306 | Human | 150572 | Details Get a Quote |
| SMYD1 Knockout HeLa Cell Line | EDJ-KQ58665 | Human | 150572 | Details Get a Quote |
| SMYD1 Knockout A-549 Cell Line | EDJ-KQ67147 | Human | 150572 | Details Get a Quote |
| SMYD1 Knockout HCT 116 Cell Line | EDJ-KQ75552 | Human | 150572 | Details Get a Quote |
