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_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (129645259..129654956, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (127964047..127973744, complement)
105.20220307	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?

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.
Therapeutic potential of apelin and Elabela in cardiovascular disease.
Title: Therapeutic potential of apelin and Elabela in cardiovascular disease.
Apelin and Visfatin Expression in Placental Tissue in Women With Preeclampsia and Overweight/Obesity.
Title: Apelin and Visfatin Expression in Placental Tissue in Women With Preeclampsia and Overweight/Obesity.
Apelin is found in human sperm and testis and is raised in inflammatory pathological conditions.
Title: Apelin is found in human sperm and testis and is raised in inflammatory pathological conditions.
Heterodimerization of apelin and opioid receptor-like 1 receptors mediates apelin-13-induced G protein biased signaling.
Title: Heterodimerization of apelin and opioid receptor-like 1 receptors mediates apelin-13-induced G protein biased signaling.
Rbpj Deficiency Disrupts Vascular Remodeling via Abnormal Apelin and Cdc42 (Cell Division Cycle 42) Activity in Brain Arteriovenous Malformation.
Title: Rbpj Deficiency Disrupts Vascular Remodeling via Abnormal Apelin and Cdc42 (Cell Division Cycle 42) Activity in Brain Arteriovenous Malformation.

Submit: New GeneRIF Correction See all GeneRIFs (297)

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

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
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 coronary vasculature development	ISS Inferred from Sequence or Structural Similarity more info
involved_in drinking behavior	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity more info
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 vascular associated smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of G protein-coupled receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of vascular endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
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	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor 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.