This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous ... See more...

Aliases for APLNR Gene

Aliases for APLNR Gene

  • Apelin Receptor 2 3 4 5
  • G-Protein Coupled Receptor HG11 3 4
  • Angiotensin II Receptor-Like 1 2 3
  • Angiotensin Receptor-Like 1 3 4
  • APJ (Apelin) Receptor 2 3
  • AGTRL1 3 4
  • APJ 3 4
  • G Protein-Coupled Receptor APJ 3
  • G-Protein Coupled Receptor APJ 4
  • HG11 Orphan Receptor 3
  • APJ Receptor 3
  • APJR 3
  • HG11 3

External Ids for APLNR Gene

Previous HGNC Symbols for APLNR Gene

  • AGTRL1

Previous GeneCards Identifiers for APLNR Gene

  • GC11M056758
  • GC11M057001
  • GC11M053349

Summaries for APLNR Gene

Entrez Gene Summary for APLNR Gene

  • This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]

GeneCards Summary for APLNR Gene

APLNR (Apelin Receptor) is a Protein Coding gene. Diseases associated with APLNR include Dementia and Integrative Agnosia. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity. An important paralog of this gene is AGTR1.

UniProtKB/Swiss-Prot Summary for APLNR Gene

  • Receptor for apelin receptor early endogenous ligand (APELA) and apelin (APLN) hormones coupled to G proteins that inhibit adenylate cyclase activity (PubMed:11090199, PubMed:25639753, PubMed:28137936). Plays a key role in early development such as gastrulation, blood vessels formation and heart morphogenesis by acting as a receptor for APELA hormone (By similarity). May promote angioblast migration toward the embryonic midline, i.e. the position of the future vessel formation, during vasculogenesis (By similarity). Promotes sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coronary blood vessel development (By similarity). Plays also a role in various processes in adults such as regulation of blood vessel formation, blood pressure, heart contractility and heart failure (PubMed:25639753, PubMed:28137936).
  • (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection; may be involved in the development of AIDS dementia (PubMed:11090199).

Tocris Summary for APLNR Gene

  • Apelin-36, apelin-13 and [Pyr1]-apelin-13 are the predominant endogenous ligands for the apelin receptor (APJ) receptor. The APJ receptor and apelin peptides act as mediators of cardiovascular function, fluid homeostasis and adipocyte endocrine secretion.

Gene Wiki entry for APLNR Gene

Additional gene information for APLNR Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APLNR Gene

Genomics for APLNR Gene

GeneHancer (GH) Regulatory Elements for APLNR Gene

Promoters and enhancers for APLNR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APLNR on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APLNR

Top Transcription factor binding sites by QIAGEN in the APLNR gene promoter:
  • GCNF
  • GCNF-1
  • GCNF-2
  • ISGF-3
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • RREB-1

Genomic Locations for APLNR Gene

Genomic Locations for APLNR Gene
chr11:57,233,577-57,237,453
(GRCh38/hg38)
Size:
3,877 bases
Orientation:
Minus strand
chr11:57,001,051-57,004,927
(GRCh37/hg19)
Size:
3,877 bases
Orientation:
Minus strand

Genomic View for APLNR Gene

Genes around APLNR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for APLNR Gene

Proteins for APLNR Gene

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

    Protein Symbol:
    P35414-APJ_HUMAN
    Recommended name:
    Apelin receptor
    Protein Accession:
    P35414

    Protein attributes for APLNR Gene

    Size:
    380 amino acids
    Molecular mass:
    42660 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for APLNR Gene

neXtProt entry for APLNR Gene

Post-translational modifications for APLNR Gene

  • Glycosylation at Asn15 and Asn175
  • Modification sites at PhosphoSitePlus

Other Protein References for APLNR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for APLNR Gene

Domains & Families for APLNR Gene

Gene Families for APLNR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Transporters

Protein Domains for APLNR Gene

Blocks:
  • APJ receptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APLNR Gene

GenScript: Design optimal peptide antigens:
  • G-protein coupled receptor HG11 (APJ_HUMAN)
  • cDNA FLJ90033 fis, clone HEMBA1001621, highly similar to PROBABLE G PROTEIN-COUPLED RECEPTOR APJ (Q8N2R3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35414

UniProtKB/Swiss-Prot:

APJ_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with APLNR: view

Function for APLNR Gene

Molecular function for APLNR Gene

UniProtKB/Swiss-Prot Function:
Receptor for apelin receptor early endogenous ligand (APELA) and apelin (APLN) hormones coupled to G proteins that inhibit adenylate cyclase activity (PubMed:11090199, PubMed:25639753, PubMed:28137936). Plays a key role in early development such as gastrulation, blood vessels formation and heart morphogenesis by acting as a receptor for APELA hormone (By similarity). May promote angioblast migration toward the embryonic midline, i.e. the position of the future vessel formation, during vasculogenesis (By similarity). Promotes sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coronary blood vessel development (By similarity). Plays also a role in various processes in adults such as regulation of blood vessel formation, blood pressure, heart contractility and heart failure (PubMed:25639753, PubMed:28137936).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection; may be involved in the development of AIDS dementia (PubMed:11090199).

Phenotypes From GWAS Catalog for APLNR Gene

Gene Ontology (GO) - Molecular Function for APLNR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity TAS,IBA 21873635
GO:0005515 protein binding IPI 22200678
GO:0038023 signaling receptor activity TAS 9792798
GO:0060182 apelin receptor activity IBA 21873635
genes like me logo Genes that share ontologies with APLNR: view
genes like me logo Genes that share phenotypes with APLNR: view

Animal Models for APLNR Gene

MGI Knock Outs for APLNR:

Animal Model Products

CRISPR Products

miRNA for APLNR Gene

miRTarBase miRNAs that target APLNR

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APLNR

Clone Products

  • Addgene plasmids for APLNR

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for APLNR Gene

Localization for APLNR Gene

Subcellular locations from UniProtKB/Swiss-Prot for APLNR Gene

Cell membrane. Note=After exposure to apelin (APLN), internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane (By similarity). After exposure to apelin receptor early endogenous ligand (APELA), internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane (PubMed:25639753). {ECO:0000250 UniProtKB:Q9JHG3, ECO:0000269 PubMed:25639753}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APLNR gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for APLNR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane IBA,TAS --
GO:0005887 integral component of plasma membrane TAS 8294032
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with APLNR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for APLNR Gene

Pathways & Interactions for APLNR Gene

genes like me logo Genes that share pathways with APLNR: view

SIGNOR curated interactions for APLNR Gene

Activates:

Gene Ontology (GO) - Biological Process for APLNR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001568 blood vessel development IBA 21873635
GO:0001570 vasculogenesis ISS --
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with APLNR: view

Drugs & Compounds for APLNR Gene

(24) Drugs for APLNR Gene - From: ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
[Pyr1]-Apelin-13 Pharma Potent peptide agonist for APJ receptor 0
Apelin-17 (human, bovine) Pharma Endogenous APJ receptor agonist 0
Apelin-36 (human) Pharma Endogenous APJ receptor agonist 0
[<sup>125</sup>I](Pyr<sup>1</sup>)apelin-13 Pharma Full agonist, Agonist 0
[<sup>125</sup>I][Glp<sup>65</sup>Nle<sup>75</sup>,Tyr<sup>77</sup>]apelin-13 Pharma Full agonist, Agonist 0

(1) Additional Compounds for APLNR Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ML 233

(5) Tocris Compounds for APLNR Gene

Compound Action Cas Number
[Pyr1]-Apelin-13 Potent peptide agonist for APJ receptor 217082-60-5
Apelin-17 (human, bovine) Endogenous APJ receptor agonist 217082-57-0
Apelin-36 (human) Endogenous APJ receptor agonist 252642-12-9
Apelin-36 (rat, mouse) Endogenous APJ receptor agonist 230299-95-3
ML 233 Non-peptide apelin receptor agonist

(4) ApexBio Compounds for APLNR Gene

Compound Action Cas Number
[Pyr1]-Apelin-13 217082-60-5
Apelin-17 (human, bovine) 217082-57-0
Apelin-36 (human) 252642-12-9
ML 221 877636-42-5
genes like me logo Genes that share compounds with APLNR: view

Drug Products

Transcripts for APLNR Gene

mRNA/cDNA for APLNR Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APLNR

Clone Products

  • Addgene plasmids for APLNR

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

No ASD Table

Relevant External Links for APLNR Gene

GeneLoc Exon Structure for
APLNR

Expression for APLNR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x9.4), Spleen (x5.3), and Brain - Hypothalamus (x5.0).

Protein differential expression in normal tissues from HIPED for APLNR Gene

This gene is overexpressed in Spinal cord (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APLNR Gene



Protein tissue co-expression partners for APLNR Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APLNR

SOURCE GeneReport for Unigene cluster for APLNR Gene:

Hs.438311

mRNA Expression by UniProt/SwissProt for APLNR Gene:

P35414-APJ_HUMAN
Tissue specificity: Expressed in heart, brain, kidney, stomach, spleen, thymus, lung, ovary, small intestine and colon, adipose tissues and pancreas (PubMed:8294032, PubMed:25639753). Expressed in glial cells, astrocytes and neuronal subpopulations (PubMed:8294032). Expressed in embryonic (ESCs) and induced (iPSCs) pluripotent stem cells (PubMed:25639753).

Evidence on tissue expression from TISSUES for APLNR Gene

  • Nervous system(4.9)
  • Heart(2.9)
  • Muscle(2.6)
  • Spleen(2.4)
genes like me logo Genes that share expression patterns with APLNR: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for APLNR Gene

Orthologs for APLNR Gene

This gene was present in the common ancestor of chordates.

Orthologs for APLNR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APLNR 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APLNR 31 30
  • 90.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aplnr 17 31 30
  • 87.41 (n)
rat
(Rattus norvegicus)
Mammalia Aplnr 30
  • 87.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia APLNR 31
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APLNR 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves APLNR 31 30
  • 71.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 67 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii aplnra 31 31
  • 48 (a)
OneToMany
aplnrb 31
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToMany
Species where no ortholog for APLNR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for APLNR Gene

ENSEMBL:
Gene Tree for APLNR (if available)
TreeFam:
Gene Tree for APLNR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APLNR: view image

Paralogs for APLNR Gene

Paralogs for APLNR Gene

(31) SIMAP similar genes for APLNR Gene using alignment to 1 proteins:

  • APJ_HUMAN
genes like me logo Genes that share paralogs with APLNR: view

Variants for APLNR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APLNR Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
731279 Likely Benign: not provided 57,236,924(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
731441 Likely Benign: not provided 57,236,848(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
760747 Likely Benign: not provided 57,236,033(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
785348 Benign: not provided 57,236,107(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs7943508 - p.Val300Ile

Additional dbSNP identifiers (rs#s) for APLNR Gene

Variation tolerance for APLNR Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.23; 40.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APLNR Gene

Human Gene Mutation Database (HGMD)
APLNR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APLNR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for APLNR Gene

Disorders for APLNR Gene

MalaCards: The human disease database

(5) MalaCards diseases for APLNR Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dementia
  • dementias
integrative agnosia
immune deficiency disease
  • primary immunodeficiency disease
hypertension, essential
  • eht
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search APLNR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APLNR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with APLNR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APLNR Gene

Publications for APLNR Gene

  1. A human gene that shows identity with the gene encoding the angiotensin receptor is located on chromosome 11. (PMID: 8294032) O'Dowd BF … Nguyen T (Gene 1993) 2 3 4 23 54
  2. Family-based analysis of apelin and AGTRL1 gene polymorphisms with hypertension in Han Chinese. (PMID: 19307984) Li WW … Zhu DL (Journal of hypertension 2009) 3 23 41 54
  3. Validation of the association between AGTRL1 polymorphism and coronary artery disease in the Japanese and Korean populations. (PMID: 19680269) Hinohara K … Kimura A (Journal of human genetics 2009) 3 23 41 54
  4. Elabela-apelin receptor signaling pathway is functional in mammalian systems. (PMID: 25639753) Wang Z … Gong DW (Scientific reports 2015) 3 4 54
  5. Correlation between plasma levels of apelin and myocardial hypertrophy in rats and humans: possible target for treatment? (PMID: 20055692) Falcão-Pires I … Leite-Moreira A (Expert opinion on therapeutic targets 2010) 3 23 54

Products for APLNR Gene

Sources for APLNR Gene