APELA apelin receptor early endogenous ligand [Homo sapiens (human)] - Gene

Summary

Official Symbol: APELAprovided by HGNC
Official Full Name: apelin receptor early endogenous ligandprovided by HGNC
Primary source: HGNC:HGNC:48925
See related: Ensembl:ENSG00000248329 MIM:615594; AllianceGenome:HGNC:48925
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ELA; tdl; Ende
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. Experiments in human and mouse cell lines point to additional roles for the encoded protein in angiogenesis and regulation of vascular tone. [provided by RefSeq, Jul 2016]
Expression: Biased expression in prostate (RPKM 1.8), kidney (RPKM 0.5) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q32.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (164877178..164899007)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (168224846..168246738)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (165798330..165818679)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Therapeutic potential of apelin and Elabela in cardiovascular disease.
Title: Therapeutic potential of apelin and Elabela in cardiovascular disease.
Betatrophin, elabela, asprosin, glucagon and subfatin peptides in breast tissue, blood and milk in gestational diabetes.
Title: Betatrophin, elabela, asprosin, glucagon and subfatin peptides in breast tissue, blood and milk in gestational diabetes.
Apelin/ELABELA-APJ system in cardiac hypertrophy: Regulatory mechanisms and therapeutic potential.
Title: Apelin/ELABELA-APJ system in cardiac hypertrophy: Regulatory mechanisms and therapeutic potential.
Reduced Apela/APJ system expression in patients with pulmonary artery hypertension secondary to chronic obstructive pulmonary disease.
Title: Reduced Apela/APJ system expression in patients with pulmonary artery hypertension secondary to chronic obstructive pulmonary disease.
A Case-Control Study of the APELA Gene and Hypertensive Disorders of Pregnancy.
Title: A Case-Control Study of the APELA Gene and Hypertensive Disorders of Pregnancy.
Elabela/toddler: New peptide with a promising future in cancer diagnostic and therapy.
Title: Elabela/toddler: New peptide with a promising future in cancer diagnostic and therapy.
Plasma Level of Elabela in Patients with Coronary Heart Disease and Its Correlation with the Disease Classification.
Title: Plasma Level of Elabela in Patients with Coronary Heart Disease and Its Correlation with the Disease Classification.
Circulating levels of Elabela and Apelin in the second and third trimesters of pregnancies with gestational diabetes mellitus.
Title: Circulating levels of Elabela and Apelin in the second and third trimesters of pregnancies with gestational diabetes mellitus.
Serum Elabela Levels Are Elevated in Patients with Hyperthyroidism.
Title: Serum Elabela Levels Are Elevated in Patients with Hyperthyroidism.
ELA/APELA precursor cleaved by furin displays tumor suppressor function in renal cell carcinoma through mTORC1 activation.
Title: ELA/APELA precursor cleaved by furin displays tumor suppressor function in renal cell carcinoma through mTORC1 activation.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables apelin receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables apelin receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables hormone activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hormone activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in adult heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in apelin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in apelin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apelin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell migration involved in mesendoderm migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in coronary vasculature development	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic heart tube development	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoderm development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesendoderm migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesoderm migration involved in gastrulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in placenta blood vessel development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of G protein-coupled receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of trophoblast cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vasculogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: apelin receptor early endogenous ligand

Names: protein Elabela; protein Toddler

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001297550.2 → NP_001284479.1 apelin receptor early endogenous ligand precursor

See identical proteins and their annotated locations for NP_001284479.1

Status: REVIEWED

Source sequence(s)

KJ158076

Consensus CDS

CCDS77980.1

UniProtKB/Swiss-Prot

P0DMC3

UniProtKB/TrEMBL

X5D2P3

Related

ENSP00000484618.1, ENST00000507152.6

Conserved Domains (1) summary

cd20244
Location:2 → 54

Toddler; Apelin receptor early endogenous ligand, also called Toddler

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

164877178..164899007

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017007623.2 → XP_016863112.1 apelin receptor early endogenous ligand isoform X1

UniProtKB/Swiss-Prot

P0DMC3

UniProtKB/TrEMBL

X5D2P3

Related

ENSP00000478306.1, ENST00000510062.5

Conserved Domains (1) summary

cd20244
Location:2 → 54

Toddler; Apelin receptor early endogenous ligand, also called Toddler

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

168224846..168246738

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054348688.1 → XP_054204663.1 apelin receptor early endogenous ligand isoform X1

UniProtKB/Swiss-Prot

P0DMC3

UniProtKB/TrEMBL

X5D2P3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_038825.1: Suppressed sequence

Description

NR_038825.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.