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

    Gene ID: 100506013, updated on 10-Dec-2024

    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
    NEW
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    Genomic context

    See APELA in Genome Data Viewer
    Location:
    4q32.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (164877178..164899007)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (168224846..168246738)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    General gene information

    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

    Preferred Names
    apelin receptor early endogenous ligand
    Names
    protein Elabela
    protein Toddler

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001297550.2NP_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:254
      Toddler; Apelin receptor early endogenous ligand, also called Toddler

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_017007623.2XP_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:254
      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_054348688.1XP_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.