APELA (Apelin Receptor Early Endogenous Ligand)
A multifunctional peptide hormone involved in cardiovascular development, fluid homeostasis, and angiogenesis.
Gene Information Card
| Symbol | APELA |
|---|---|
| Full Name | Apelin Receptor Early Endogenous Ligand |
| Gene Type | protein-coding |
| Chromosomal Location | 4q32.3 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000248323 |
| UniProt ID | Q9BXJ8 |
| OMIM ID | 615792 |
| HGNC ID | 42915 |
| Aliases | ELABELA, Toddler, ELA |
Description
APELA (also known as ELABELA or Toddler) encodes a secreted peptide hormone that acts as an endogenous ligand for the apelin receptor (APJ). It plays critical roles in early embryonic development, particularly in cardiovascular morphogenesis, as well as in adult fluid homeostasis, angiogenesis, and blood pressure regulation. The gene is located on chromosome 4q32.3 and is highly conserved across vertebrates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Preeclampsia | Dysregulation of APELA expression may impair placental angiogenesis and maternal vascular adaptation. | PMID: 28341696 |
| Congenital heart defects | Loss-of-function mutations in APELA disrupt cardiac progenitor cell migration during embryogenesis. | PMID: 28341696 |
| Hypertension | APELA deficiency alters apelin receptor signaling, contributing to elevated blood pressure. | PMID: 28341696 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Heart | 6.1 | Low |
| Lung | 4.3 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 15.0 | High expression |
| HEK 293 | 3.5 | Low expression |
| HeLa | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.55C>T (p.Arg19*) | nonsense | <0.01% | Premature stop, loss of function |
| c.104G>A (p.Arg35Gln) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated or absent protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Apelin signaling pathway (KEGG: hsa04371)
• GPCR downstream signaling (Reactome: R-HSA-388396)
Protein Summary
The APELA protein is a 54-amino-acid secreted peptide that undergoes proteolytic processing to generate a mature active form. It binds to the apelin receptor (APJ) with high affinity, activating G-protein-coupled signaling cascades that regulate cell migration, proliferation, and vasodilation. The peptide is essential for early cardiac development and maintains cardiovascular and fluid homeostasis in adults.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APELA Knockout HEK293 Cell Line | EDJ-KQ438 | Human | 100506013 | Details Get a Quote |
| APELA Knockout HeLa Cell Line | EDJ-KQ60907 | Human | 100506013 | Details Get a Quote |
| APELA Knockout A-549 Cell Line | EDJ-KQ69382 | Human | 100506013 | Details Get a Quote |
| APELA Knockout HCT 116 Cell Line | EDJ-KQ77735 | Human | 100506013 | Details Get a Quote |
