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

Gene ID: 100506013, updated on 8-Mar-2024

Summary

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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

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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_000004.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75752 Neighboring gene CHORDC1 pseudogene 3 Neighboring gene MPRA-validated peak5145 silencer Neighboring gene small integral membrane protein 31 Neighboring gene RNA, U6 small nuclear 668, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:165720294-165720912 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:165720913-165721532 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:165794162-165794662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22107 Neighboring gene tripartite motif containing 60 pseudogene 14 Neighboring gene ribosomal protein L26 pseudogene 16

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A Case-Control Study of the APELA Gene and Hypertensive Disorders of Pregnancy. Shimada N, et al. Medicina (Kaunas), 2022 Apr 26. PMID 35630008, Free PMC Article
  2. Plasma Level of Elabela in Patients with Coronary Heart Disease and Its Correlation with the Disease Classification. Tian QP, et al. Int Heart J, 2021 Jul 30. PMID 34276017
  3. Elabela/toddler: New peptide with a promising future in cancer diagnostic and therapy. Liet B, et al. Biochim Biophys Acta Mol Cell Res, 2021 Aug. PMID 34090960
  4. Elabela levels in patients with type 2 diabetes: can it be a marker for diabetic nephropathy? Onalan E, et al. Afr Health Sci, 2020 Jun. PMID 33163050, Free PMC Article
  5. Association between ELABELA Serum Concentrations in First Trimester and Pregnancy-Induced Hypertension. Ma S, et al. Biomed Res Int, 2020. PMID 33062670, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Therapeutic potential of apelin and Elabela in cardiovascular disease.
    Title: Therapeutic potential of apelin and Elabela in cardiovascular disease.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Serum Elabela Levels Are Elevated in Patients with Hyperthyroidism.
    Title: Serum Elabela Levels Are Elevated in Patients with Hyperthyroidism.
  10. 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)

Genotypes

General gene information

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Homology

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)

  1. 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

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    164877178..164899007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    168224846..168246738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  1. 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DMC3.1 GenPept UniProtKB/Swiss-Prot:P0DMC3

Gene LinkOut

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