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Aliases for APLNR Gene

Aliases for APLNR Gene

  • Apelin Receptor 2 3 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 Pulmonary Venoocclusive Disease. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and receptor activity. An important paralog of this gene is AGTR1.

UniProtKB/Swiss-Prot 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 and heart morphogenesis by acting as a receptor for APELA hormone (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 by acting as a receptor for APLN hormone (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 , fRNAdb sequence ontologies and piRNA Summary for APLNR Gene

Genomics for APLNR Gene

GeneHancer (GH) Regulatory Elements for APLNR Gene

Promoters and enhancers for APLNR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I057233 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 555.8 +1.7 1707 4.8 HDGF HDAC1 MEIS2 KLF1 PKNOX1 ATF1 ETV1 E4F1 CTBP1 NCOR1 APLNR SSRP1 PRG2 LOC105369309
GH11I057276 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -41.3 -41267 4.1 HDAC1 PKNOX1 ATF1 SIN3A FEZF1 RAD21 YY1 ZNF766 ZNF143 RCOR1 SSRP1 APLNR TNKS1BP1 ENSG00000254662 P2RX3 SLC43A3 UBE2L6 GC11P057311
GH11I057212 Enhancer 1 Ensembl ENCODE dbSUPER 16.9 +23.4 23449 2.4 MEIS2 PKNOX1 USF1 SOX6 ZSCAN4 CDC5L ZNF148 MCM7 SP1 VEZF1 APLNR LRRC55 LOC105369309 GC11P057188
GH11I057155 Enhancer 0.9 ENCODE dbSUPER 15.2 +81.2 81161 1.5 HDAC1 LEF1 TEAD4 ZMYM3 FOSL1 NFATC1 RCOR1 CHD2 SMARCE1 SOX6 APLNR LRRC55 PRG2 GC11P057137
GH11I057291 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.1 -57.0 -56986 4.9 FOXA2 ZFP64 YY1 ZNF335 ZNF121 TCF12 EGR2 RXRA CEBPB NR2F2 TNKS1BP1 SSRP1 ENSG00000254662 P2RX3 APLNR MED19 GC11P057311
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around APLNR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APLNR gene promoter:

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)

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

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

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 and heart morphogenesis by acting as a receptor for APELA hormone (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 by acting as a receptor for APLN hormone (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:0004872 receptor activity TAS 9792798
GO:0004930 G-protein coupled receptor activity TAS,IEA --
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:

miRNA for APLNR Gene

miRTarBase miRNAs that target 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 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for APLNR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane 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

Interacting Proteins for APLNR Gene

Gene Ontology (GO) - Biological Process for APLNR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis ISS --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0007275 multicellular organism development IEA --
GO:0007369 gastrulation IEA --
genes like me logo Genes that share ontologies with APLNR: view

No data available for SIGNOR curated interactions for APLNR Gene

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

(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

Unigene Clusters for APLNR Gene

Apelin receptor:
Representative Sequences:

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
ECgene alternative splicing isoforms for
APLNR

Expression for APLNR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for APLNR Gene



Protein tissue co-expression partners for APLNR Gene

NURSA nuclear receptor signaling pathways regulating expression of APLNR Gene:

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(2.8)
  • 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 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia APLNR 33 34
  • 90.79 (n)
mouse
(Mus musculus)
Mammalia Aplnr 33 16 34
  • 87.41 (n)
rat
(Rattus norvegicus)
Mammalia Aplnr 33
  • 87.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia APLNR 34
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APLNR 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves APLNR 33 34
  • 71.31 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 67 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii aplnra 34 34
  • 48 (a)
OneToMany
aplnrb 34
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for APLNR Gene

Paralogs for APLNR Gene

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

Variants for APLNR Gene

Sequence variations from dbSNP and Humsavar for APLNR Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000024506 -- 57,233,942(-) G/A 3_prime_UTR_variant, intron_variant
rs1000546107 -- 57,233,680(-) A/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1000614668 -- 57,236,379(-) C/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1002101080 -- 57,234,979(-) A/C 3_prime_UTR_variant, intron_variant
rs1002383000 -- 57,237,132(-) C/T 5_prime_UTR_variant, non_coding_transcript_variant

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

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

(1) MalaCards diseases for APLNR Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
pulmonary venoocclusive disease
  • pulmonary veno-occlusive disease
- 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 22 58
  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 22 44 58
  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 22 44 58
  4. Elabela-apelin receptor signaling pathway is functional in mammalian systems. (PMID: 25639753) Wang Z … Gong DW (Scientific reports 2015) 3 4 58
  5. The fate of the internalized apelin receptor is determined by different isoforms of apelin mediating differential interaction with beta-arrestin. (PMID: 20353754) Lee DK … O'Dowd BF (Biochemical and biophysical research communications 2010) 3 22 58

Products for APLNR Gene

Sources for APLNR Gene

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