MESP1: Master Regulator of Cardiac Mesoderm Specification
Essential transcription factor for cardiovascular development and congenital heart disease
Gene Information Card
| Symbol | MESP1 |
|---|---|
| Full Name | Mesoderm Posterior BHLH Transcription Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 55897 ncbi.nlm.nih.gov/gene/55897 |
| Ensembl ID | ENSG00000166823 |
| UniProt ID | Q9BRJ9 |
| OMIM ID | 608689 |
| HGNC ID | 29659 |
| Aliases | bHLHc5, MESP-1 |
Description
MESP1 encodes a basic helix-loop-helix (bHLH) transcription factor that functions as a master regulator of cardiac mesoderm specification. It is essential for early cardiovascular development, controlling the formation of the primitive heart tube and subsequent cardiac morphogenesis. MESP1 activates a cascade of downstream cardiac transcription factors including NKX2-5, GATA4, and TBX5.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease (CHD) | MESP1 mutations disrupt cardiac mesoderm specification, leading to structural heart defects | PMID: 25741868 |
| Left ventricular noncompaction cardiomyopathy | Loss-of-function variants impair myocardial trabeculation | PMID: 28492532 |
| Tetralogy of Fallot | MESP1 haploinsufficiency alters second heart field development | PMID: 24055113 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 0.0 | Not detected |
| Skeletal muscle | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Placenta | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| H9 hESC (undifferentiated) | 0.0 | No expression |
| Cardiac mesoderm (day 4 differentiation) | 12.5 | Transient peak during differentiation |
| Cardiomyocytes (day 15) | 0.0 | Expression silenced after specification |
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 translation initiation |
| c.184C>T (p.Arg62Trp) | Missense | <0.01% | Reduced DNA binding affinity |
| c.331_332delAG (p.Ser111Valfs*13) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported MESP1 mutations are loss-of-function, impairing transcriptional activation of cardiac target genes.
Gain of Function (GOF)
No gain-of-function mutations have been described in MESP1.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg62Trp) may act as dominant-negative by dimerizing with wild-type protein but failing to bind DNA.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiac progenitor differentiation (REACT:R-HSA-5576891)
• Transcriptional regulation of pluripotent stem cell differentiation (REACT:R-HSA-1266738)
• Mesodermal commitment pathway (REACT:R-HSA-983189)
Protein Summary
MESP1 is a 288-amino acid bHLH transcription factor that localizes to the nucleus. It forms homodimers or heterodimers with E-proteins (e.g., TCF3) to bind E-box sequences (CANNTG) in target gene promoters. MESP1 is transiently expressed in the primitive streak and early cardiac mesoderm, where it activates a transcriptional network driving cardiomyocyte differentiation. Its expression is rapidly downregulated after cardiac specification is complete.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MESP1 Knockout HEK293 Cell Line | EDJ-KQ14237 | Human | 55897 | Details Get a Quote |
| MESP1 Knockout A-549 Cell Line | EDJ-KQ44213 | Human | 55897 | Details Get a Quote |
| MESP1 Knockout HCT 116 Cell Line | EDJ-KQ44214 | Human | 55897 | Details Get a Quote |
| MESP1 Knockout HeLa Cell Line | EDJ-KQ44215 | Human | 55897 | Details Get a Quote |
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