APELA (apelin receptor early endogenous ligand)

Gene

• Entrez ID: 100506013
• Gene name: Apelin receptor early endogenous ligand
• Gene symbol: APELA
• Synonyms (NCBI Gene): ELA, Ende, tdl
• Chromosome: 4
• Chromosome location: 4q32.3
• Summary: This gene encodes a peptide hormone that binds to the Apelin receptor. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic stem cells through activation of the PI3K/AKT pathway.

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001570	Process	Vasculogenesis	ISS
GO:0002031	Process	G protein-coupled receptor internalization	IDA	10644702
GO:0002031	Process	G protein-coupled receptor internalization	IMP	12582207
GO:0005179	Function	Hormone activity	IDA	35817871
GO:0005179	Function	Hormone activity	IEA
GO:0005179	Function	Hormone activity	IMP	25639753, 28137936
GO:0005179	Function	Hormone activity	ISS
GO:0005576	Component	Extracellular region	IDA	24316148, 28137936
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	35817871
GO:0005615	Component	Extracellular space	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	35817871
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	35817871
GO:0007369	Process	Gastrulation	IEA
GO:0007492	Process	Endoderm development	ISS
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0007509	Process	Mesoderm migration involved in gastrulation	ISS
GO:0007512	Process	Adult heart development	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031704	Function	Apelin receptor binding	IDA	28137936
GO:0031704	Function	Apelin receptor binding	IEA
GO:0031704	Function	Apelin receptor binding	ISS
GO:0035050	Process	Embryonic heart tube development	ISS
GO:0045766	Process	Positive regulation of angiogenesis	IMP	25639753
GO:0045823	Process	Positive regulation of heart contraction	ISS
GO:0060183	Process	Apelin receptor signaling pathway	IDA	25639753
GO:0060183	Process	Apelin receptor signaling pathway	IEA
GO:0060183	Process	Apelin receptor signaling pathway	IMP	28137936
GO:0060183	Process	Apelin receptor signaling pathway	ISS
GO:0060674	Process	Placenta blood vessel development	ISS
GO:0060976	Process	Coronary vasculature development	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0090133	Process	Mesendoderm migration	ISS
GO:0090134	Process	Cell migration involved in mesendoderm migration	ISS
GO:1901165	Process	Positive regulation of trophoblast cell migration	IMP	28663440
GO:1903589	Process	Positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	ISS
GO:1904022	Process	Positive regulation of G protein-coupled receptor internalization	IMP	25639753

Other IDs

• MIM: 615594
• HGNC: 48925
• e!Ensembl: ENSG00000248329

Protein

• UniProt ID: P0DMC3
• Protein name: Apelin receptor early endogenous ligand (Protein Elabela) (ELA) (Protein Toddler)
• Protein function: Peptide hormone that functions as endogenous ligand for the G-protein-coupled apelin receptor (APLNR/APJ), that plays a role in the regulation of normal cardiovascular function and fluid homeostasis (PubMed:25639753, PubMed:28137936, PubMed:3581
• PDB: 7W0N, 7W0O, 7W0P
• Tissue specificity: TISSUE SPECIFICITY: Expressed in the intima of blood vessels (PubMed:28137936). Expressed in endothelial cells in blood vessels in the heart and lung (PubMed:28137936). Expressed in cytotrophoblasts and syncytiotrophoblasts of first-trimester placental ti
• Sequence:

  MRFQQFLFAFFIFIMSLLLISGQRPVNLTMRRKLRKHNCLQRRCMPLHSRVPFP

• Sequence length: 54

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Apelin signaling pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Acute Disease	Associate	38237563	★☆☆☆☆ Found in Text Mining only
Cardio Renal Syndrome	Associate	38237563	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Associate	35748053	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Associate	32208782	★☆☆☆☆ Found in Text Mining only
Heart Failure	Associate	38237563	★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease	Associate	19715473	★☆☆☆☆ Found in Text Mining only