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Aliases for APELA Gene

Aliases for APELA Gene

  • Apelin Receptor Early Endogenous Ligand 2 3 5
  • Protein Elabela 3 4
  • Protein Toddler 3 4
  • Tdl 3 4
  • ELA 3 4
  • ELABELA 2
  • Toddler 2
  • Ende 3

External Ids for APELA Gene

Previous GeneCards Identifiers for APELA Gene

  • GC04P165801

Summaries for APELA Gene

Entrez Gene Summary for APELA Gene

  • 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]

GeneCards Summary for APELA Gene

APELA (Apelin Receptor Early Endogenous Ligand) is a Protein Coding gene. GO annotations related to this gene include hormone activity and apelin receptor binding.

UniProtKB/Swiss-Prot for APELA Gene

  • Hormone required during early development for endoderm differentiation and heart morphogenesis by acting as a ligand for the apelin receptor (APLNR). Acts as a motogen by promoting endoderm and mesendoderm cell migration during gastrulation by binding and activating the apelin receptor, thereby driving internalization of the apelin receptor. Plays a key role during heart development by acting as a ligand for the apelin receptor (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APELA Gene

Genomics for APELA Gene

Regulatory Elements for APELA Gene

Enhancers for APELA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G164876 1 ENCODE dbSUPER 0.7 +0.2 174 0.7 TBP PKNOX1 MXI1 POLR2A RELB CHD2 MAZ MTA2 CHD1 DPF2 APELA TRIM60P14
GH04G164866 0.8 ENCODE dbSUPER 0.4 -9.9 -9905 1.0 HDAC2 POLR2A NFYB IKZF1 POU5F1 CHD7 IKZF2 RNU6-668P APELA
GH04G164884 0.7 dbSUPER 0.4 +7.5 7473 0.5 CTCF ZNF654 MTA2 TRIM22 RAD21 ZNF316 MTA1 ZNF366 ZNF512 NBN RNU6-668P APELA TRIM60P14
GH04G164802 0.6 ENCODE 0.2 -74.3 -74287 1.2 MAX CEBPB RAD21 YY1 FOXA1 JUND ATF3 ZBTB33 HNF4A RNU6-668P APELA
GH04G164798 0.6 ENCODE 0.2 -77.2 -77195 2.3 TEAD4 MAX POU5F1 ZNF24 CHD7 FOXA1 TRIM61 RNU6-668P APELA
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around APELA on UCSC Golden Path with GeneCards custom track

Genomic Location for APELA Gene

Chromosome:
4
Start:
164,876,988 bp from pter
End:
164,898,965 bp from pter
Size:
21,978 bases
Orientation:
Plus strand

Genomic View for APELA Gene

Genes around APELA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APELA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APELA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APELA Gene

Proteins for APELA Gene

  • Protein details for APELA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DMC3-ELA_HUMAN
    Recommended name:
    Apelin receptor early endogenous ligand
    Protein Accession:
    P0DMC3

    Protein attributes for APELA Gene

    Size:
    54 amino acids
    Molecular mass:
    6622 Da
    Quaternary structure:
    • Interacts with APLNR.

neXtProt entry for APELA Gene

Post-translational modifications for APELA Gene

No Post-translational modifications

Other Protein References for APELA Gene

No data available for DME Specific Peptides for APELA Gene

Domains & Families for APELA Gene

Gene Families for APELA Gene

Protein Domains for APELA Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P0DMC3

UniProtKB/Swiss-Prot:

ELA_HUMAN :
  • Belongs to the Elabela/Toddler family.
Family:
  • Belongs to the Elabela/Toddler family.
genes like me logo Genes that share domains with APELA: view

No data available for Suggested Antigen Peptide Sequences for APELA Gene

Function for APELA Gene

Molecular function for APELA Gene

UniProtKB/Swiss-Prot Function:
Hormone required during early development for endoderm differentiation and heart morphogenesis by acting as a ligand for the apelin receptor (APLNR). Acts as a motogen by promoting endoderm and mesendoderm cell migration during gastrulation by binding and activating the apelin receptor, thereby driving internalization of the apelin receptor. Plays a key role during heart development by acting as a ligand for the apelin receptor (By similarity).

Gene Ontology (GO) - Molecular Function for APELA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity ISS --
GO:0031704 apelin receptor binding ISS --
genes like me logo Genes that share ontologies with APELA: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for APELA Gene

Localization for APELA Gene

Subcellular locations from UniProtKB/Swiss-Prot for APELA Gene

Secreted, extracellular space. Secreted.

Gene Ontology (GO) - Cellular Components for APELA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,IEA 24316148
GO:0005615 extracellular space IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with APELA: view

No data available for Subcellular locations from COMPARTMENTS for APELA Gene

Pathways & Interactions for APELA Gene

SuperPathways for APELA Gene

No Data Available

Interacting Proteins for APELA Gene

Gene Ontology (GO) - Biological Process for APELA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007369 gastrulation IEA --
GO:0007492 endoderm development ISS --
GO:0007507 heart development ISS --
GO:0060183 apelin receptor signaling pathway ISS --
genes like me logo Genes that share ontologies with APELA: view

No data available for Pathways by source and SIGNOR curated interactions for APELA Gene

Drugs & Compounds for APELA Gene

No Compound Related Data Available

Transcripts for APELA Gene

mRNA/cDNA for APELA Gene

(2) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for APELA Gene

No ASD Table

Relevant External Links for APELA Gene

GeneLoc Exon Structure for
APELA
ECgene alternative splicing isoforms for
APELA

Expression for APELA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for APELA Gene

mRNA differential expression in normal tissues according to GTEx for APELA Gene

This gene is overexpressed in Prostate (x7.4) and Skin - Not Sun Exposed (Suprapubic) (x4.8).

NURSA nuclear receptor signaling pathways regulating expression of APELA Gene:

APELA

mRNA Expression by UniProt/SwissProt for APELA Gene:

P0DMC3-ELA_HUMAN
Tissue specificity: Most highly expressed in undifferentiated embryonic stem cell and is rapidly down-regulated during differentiation.
genes like me logo Genes that share expression patterns with APELA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for APELA Gene

Orthologs for APELA Gene

Evolution for APELA Gene

ENSEMBL:
Gene Tree for APELA (if available)
TreeFam:
Gene Tree for APELA (if available)

No data available for Orthologs for APELA Gene

Paralogs for APELA Gene

No data available for Paralogs for APELA Gene

Variants for APELA Gene

Sequence variations from dbSNP and Humsavar for APELA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000001358 -- 164,884,617(+) CAAGC(C/T)CTGGC intron-variant
rs1000036066 -- 164,879,659(+) AGGCT(G/T)GTCTC intron-variant
rs1000087907 -- 164,896,378(+) CCCAA(C/T)GTTTG intron-variant, utr-variant-3-prime
rs1000102997 -- 164,881,438(+) GTCAA(C/T)TTTTC intron-variant
rs1000230742 -- 164,898,408(+) GAGGC(A/G)GGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for APELA Gene

Variant ID Type Subtype PubMed ID
esv2674138 CNV deletion 23128226
esv2759299 CNV gain 17122850
esv2760864 CNV gain 21179565
esv3603007 CNV gain 21293372
esv3603008 CNV loss 21293372
nsv1019150 CNV gain 25217958
nsv528320 CNV loss 19592680
nsv528686 CNV gain 19592680
nsv596037 CNV gain 21841781

Relevant External Links for APELA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APELA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for APELA Gene

Disorders for APELA Gene

Relevant External Links for APELA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APELA

No disorders were found for APELA Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for APELA Gene

Publications for APELA Gene

  1. ELABELA: a hormone essential for heart development signals via the apelin receptor. (PMID: 24316148) Chng S.C. … Reversade B. (Dev. Cell 2013) 2 3 4 64
  2. Toddler: an embryonic signal that promotes cell movement via Apelin receptors. (PMID: 24407481) Pauli A. … Schier A.F. (Science 2014) 2 3 64
  3. Expression of two novel transcripts in the mouse definitive endoderm. (PMID: 20153842) Hassan A.S. … Hoodless P.A. (Gene Expr. Patterns 2010) 2 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Elabela/Toddler Is an Endogenous Agonist of the Apelin APJ Receptor in the Adult Cardiovascular System, and Exogenous Administration of the Peptide Compensates for the Downregulation of Its Expression in Pulmonary Arterial Hypertension. (PMID: 28137936) Yang P. … Davenport A.P. (Circulation 2017) 3 64

Products for APELA Gene

Sources for APELA Gene

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