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; AllianceGenome:HGNC:16665
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
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Genomic context

Location:: Xq26.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (129645259..129654956, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (127964047..127973744, complement)
RS_2024_09	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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Apelin (APLN) is a biomarker contributing to the diagnosis and prognosis of hepatocellular carcinoma.
Title: Apelin (APLN) is a biomarker contributing to the diagnosis and prognosis of hepatocellular carcinoma.
Reciprocal Interactions Between Apelin and Noncoding RNAs in Cancer Progression.
Title: Reciprocal Interactions Between Apelin and Noncoding RNAs in Cancer Progression.
Apelin - A New Kid on the Block in Periodontology.
Title: Apelin - A New Kid on the Block in Periodontology.
Lack of association between serum apelin levels and sarcopenia in elderly malnourished subjects.
Title: Lack of association between serum apelin levels and sarcopenia in elderly malnourished subjects.
Apelin and the gut microbiome: Potential interaction in human MASLD.
Title: Apelin and the gut microbiome: Potential interaction in human MASLD.
The regulatory role of the apelin/APJ axis in scarring: Identification of upstream and downstream mechanisms.
Title: The regulatory role of the apelin/APJ axis in scarring: Identification of upstream and downstream mechanisms.
Targeting the apelin system for the treatment of cardiovascular diseases.
Title: Targeting the apelin system for the treatment of cardiovascular diseases.
Plasma Level of Apelin as a Promising Factor for Retinopathy of Prematurity.
Title: Plasma Level of Apelin as a Promising Factor for Retinopathy of Prematurity.
Circulating apelin, IL22RA2 and VEGF in pre-capillary pulmonary hypertension.
Title: Circulating apelin, IL22RA2 and VEGF in pre-capillary pulmonary hypertension.
The regulatory effects of the apelin/APJ system on depression: A prospective therapeutic target.
Title: The regulatory effects of the apelin/APJ system on depression: A prospective therapeutic target.

Submit: New GeneRIF Correction See all GeneRIFs (302)

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)

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

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

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within G protein-coupled receptor internalization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within G protein-coupled receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within apelin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in apelin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in apelin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within apelin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apelin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in coronary vasculature development	IEA Inferred from Electronic Annotation more info
involved_in coronary vasculature development	ISS Inferred from Sequence or Structural Similarity more info
involved_in drinking behavior	IEA Inferred from Electronic Annotation more info
involved_in drinking behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in feeding behavior	IEA Inferred from Electronic Annotation more info
involved_in gastrulation	IEA Inferred from Electronic Annotation more info
involved_in immune response	TAS Traceable Author Statement more info
involved_in lactation	TAS Traceable Author Statement more info
involved_in negative regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of cardiac muscle hypertrophy in response to stress	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of fibroblast growth factor receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of vascular associated smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of G protein-coupled receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of G protein-coupled receptor internalization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of cardiac muscle hypertrophy	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within positive regulation of cardiac muscle hypertrophy in response to stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of corticotropin secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of corticotropin-releasing hormone secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of heart contraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of heart rate	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of heat generation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of body fluid levels	IEA Inferred from Electronic Annotation more info
involved_in regulation of the force of heart contraction	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

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