APLN apelin [Homo sapiens (human)] - Gene

Summary

Official Symbol: APLNprovided by HGNC
Official Full Name: apelinprovided by HGNC
Primary source: HGNC:HGNC:16665
See related: Ensembl:ENSG00000171388 MIM:300297
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: APEL; XNPEP2
Summary: This gene encodes a peptide that functions as an endogenous ligand for the G-protein coupled apelin receptor. The encoded preproprotein is proteolytically processed into biologically active C-terminal peptide fragments. These peptide fragments activate different tissue specific signaling pathways that regulate diverse biological functions including fluid homeostasis, cardiovascular function and insulin secretion. This protein also functions as a coreceptor for the human immunodeficiency virus 1. [provided by RefSeq, Feb 2016]
Expression: Biased expression in placenta (RPKM 42.1), lung (RPKM 12.5) and 5 other tissues See more
Orthologs: mouse all

Genomic context

Location:: Xq26.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20200815	current	GRCh38.p13 (GCF_000001405.39)	X	NC_000023.11 (129645259..129654956, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (128779236..128788933, complement)

Chromosome X - NC_000023.11 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?

Apelin(+) Endothelial Niche Cells Control Hematopoiesis and Mediate Vascular Regeneration after Myeloablative Injury.
Title: Apelin<sup>+</sup> Endothelial Niche Cells Control Hematopoiesis and Mediate Vascular Regeneration after Myeloablative Injury.
APLN promotes hepatocellular carcinoma through activating PI3K/Akt pathway and is a druggable target.
Title: APLN promotes hepatocellular carcinoma through activating PI3K/Akt pathway and is a druggable target.
proangiogenic apelin as a key mediator of coronary vascular repair and a pharmacotherapeutic target for immune-mediated injury of the coronary vasculature.
Title: Apelin directs endothelial cell differentiation and vascular repair following immune-mediated injury.
Apelin is upregulated in lung adenocarcinoma and significantly correlated with patient survival. Apelin is a direct target of miR-195 and its overexpression efficiently inhibits the promotion of cell proliferation and invasion mediated by miR-195 mimics in lung adenocarcinoma cells.
Title: MicroRNA-195 suppresses the progression of lung adenocarcinoma by directly targeting apelin.
Results found that apelin abrogated the stimulatory effects of E2 and IGF-1 on proliferation of epithelial and granulosa ovarian cancer cell lines independently of ERK1/2 and PI3K via crosstalk of apelin receptor with estrogen receptor alpha and IGF-1 receptor, respectively.
Title: Apelin abrogates the stimulatory effects of 17β-estradiol and insulin-like growth factor-1 on proliferation of epithelial and granulosa ovarian cancer cell lines via crosstalk between APLNR and ERα/IGF1R.
the apelin/APJ system plays diversified functions and regulatory roles in digestive physiology and pathology. Further exploration of the relationship between the apelin/APJ system and the digestive system will help to find new and effective drugs for treating and alleviating the pain of digestive diseases.
Title: Function and regulation of apelin/APJ system in digestive physiology and pathology.
Study identified neutral endopeptidase (NEP) that is upregulated in human abdominal aortic aneurysm (AAA) tissue as a major enzyme that metabolizes and inactivates APLN17 peptide. NEP cleavage resistant APLN17 analog ameliorated Ang II-mediated adverse aortic remodeling and AAA formation in mouse model of AAA. Study defines a critical role of APLN in AAA formation through induction of ACE2 and protection of vascular SMCs.
Title: Apelin protects against abdominal aortic aneurysm and the therapeutic role of neutral endopeptidase resistant apelin analogs.
The apelin/APJ system plays an important role in mediating these axes, such as food intake, acute stress, steroid release, as well as, an anti-depressant-like activity.
Title: Role of apelin/APJ system in hypothalamic-pituitary axis.
Studied assocation of plasma apelin in tinnitus; results showed a negative correlation between plasma apelin levels and tinnitus severity.
Title: Can apelin play a role in the etiology of tinnitus?
decreased in maternal and cord blood in pre-eclampsia, relative to controls
Title: Evaluation of elabela, apelin and nitric oxide findings in maternal blood of normal pregnant women, pregnant women with pre-eclampsia, severe pre-eclampsia and umbilical arteries and venules of newborns.

Submit: New GeneRIF Correction See all GeneRIFs (220)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	APJ, a seven transmembrane domain G-protein-coupled receptor, functions as a coreceptor for gp120 from some HIV-1 strains; a natural peptide ligand for APJ, apelin-13, efficiently blocks APJ coreceptor activity	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91453 (e-PCR)
- UniSTS:92224

RH18197 (e-PCR)
- UniSTS:23741

APLN_3269 (e-PCR)
- UniSTS:462030

Homology

Homologs of the APLN gene: The APLN gene is conserved in dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 244 organisms have orthologs with human gene APLN
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
apelin receptor binding	IDA Inferred from Direct Assay more info	PubMed
hormone activity	IMP Inferred from Mutant Phenotype more info	PubMed
identical protein binding	IEA Inferred from Electronic Annotation more info
signaling receptor binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
angiogenesis	IEA Inferred from Electronic Annotation more info
apelin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
apelin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
coronary vasculature development	ISS Inferred from Sequence or Structural Similarity more info
drinking behavior	ISS Inferred from Sequence or Structural Similarity more info
gastrulation	IEA Inferred from Electronic Annotation more info
immune response	TAS Traceable Author Statement more info
lactation	TAS Traceable Author Statement more info
negative regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of fibroblast growth factor receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
negative regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
negative regulation of vascular smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
positive regulation of G protein-coupled receptor internalization	IDA Inferred from Direct Assay more info	PubMed
positive regulation of corticotropin secretion	IEA Inferred from Electronic Annotation more info
positive regulation of corticotropin-releasing hormone secretion	IEA Inferred from Electronic Annotation more info
positive regulation of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of heat generation	IEA Inferred from Electronic Annotation more info
positive regulation of phosphorylation	IEA Inferred from Electronic Annotation more info
positive regulation of pri-miRNA transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
positive regulation of vascular endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
regulation of respiratory gaseous exchange	IEA Inferred from Electronic Annotation more info
regulation of the force of heart contraction	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
viral process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
extracellular region	IDA Inferred from Direct Assay more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: apelin

Names: AGTRL1 ligand; APJ endogenous ligand

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.