This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants... See more...

Aliases for RXFP1 Gene

Aliases for RXFP1 Gene

  • Relaxin Family Peptide Receptor 1 2 3 4 5
  • Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 7 2 3
  • Relaxin/Insulin Like Family Peptide Receptor 1 2 3
  • Relaxin Receptor 1 3 4
  • RXFPR1 2 3
  • LGR7 3 4
  • Leucine-Rich Repeat-Containing G-Protein Coupled Receptor 7 4
  • RXFP1 5

External Ids for RXFP1 Gene

Previous HGNC Symbols for RXFP1 Gene

  • LGR7

Previous GeneCards Identifiers for RXFP1 Gene

  • GC04P159655
  • GC04P159435
  • GC04P159236
  • GC04P155192

Summaries for RXFP1 Gene

Entrez Gene Summary for RXFP1 Gene

  • This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for RXFP1 Gene

RXFP1 (Relaxin Family Peptide Receptor 1) is a Protein Coding gene. Diseases associated with RXFP1 include Endometriosis and Placenta Accreta. Among its related pathways are Signaling by GPCR and Relaxin signaling pathway. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and hormone binding. An important paralog of this gene is RXFP2.

UniProtKB/Swiss-Prot Summary for RXFP1 Gene

  • Receptor for relaxins. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. Binding of the ligand may also activate a tyrosine kinase pathway that inhibits the activity of a phosphodiesterase that degrades cAMP.

Gene Wiki entry for RXFP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RXFP1 Gene

Genomics for RXFP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RXFP1 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
GH04J158521 Promoter 0.8 EPDnew Ensembl 250.1 +206.4 206390 0.6 NRF1 NONHSAG039215.2 RXFP1 ENSG00000249901 ETFDH
GH04J158312 Enhancer 0.7 Ensembl ENCODE 250.7 -0.2 -210 5 CEBPB EP300 JUND BHLHE40 SPI1 IKZF2 FOS RUNX3 RXFP1 AIDAP2 TMEM144 PPID FAM198B-AS1 HSALNG0038165 HSALNG0038162
GH04J158590 Promoter 0.3 EPDnew 250.1 +275.6 275616 0.1 RXFP1 RF00017-4435 piR-30449-124 NONHSAG039215.2 ETFDH
GH04J158371 Enhancer 0.6 Ensembl ENCODE 14.6 +55.9 55890 2 CEBPB EP300 FOS RXFP1 RNU4-79P HSALNG0038166 LOC105377510 HSALNG0038162 ETFDH
GH04J158273 Enhancer 0.2 Ensembl 10.5 -41.2 -41210 1 RXFP1 AIDAP2 MN298144 lnc-TMEM144-3 TMEM144
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RXFP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RXFP1

Top Transcription factor binding sites by QIAGEN in the RXFP1 gene promoter:
  • aMEF-2
  • E47
  • Lhx3a
  • LHX3b
  • MEF-2A
  • MZF-1
  • STAT3
  • STAT5B
  • Tal-1beta
  • TBP

Genomic Locations for RXFP1 Gene

Latest Assembly
chr4:158,315,311-158,653,372
(GRCh38/hg38)
Size:
338,062 bases
Orientation:
Plus strand

Previous Assembly
chr4:159,442,866-159,574,524
(GRCh37/hg19 by Entrez Gene)
Size:
131,659 bases
Orientation:
Plus strand

chr4:159,236,463-159,574,524
(GRCh37/hg19 by Ensembl)
Size:
338,062 bases
Orientation:
Plus strand

Genomic View for RXFP1 Gene

Genes around RXFP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RXFP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RXFP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RXFP1 Gene

Proteins for RXFP1 Gene

  • Protein details for RXFP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBX9-RXFP1_HUMAN
    Recommended name:
    Relaxin receptor 1
    Protein Accession:
    Q9HBX9
    Secondary Accessions:
    • B4DHD1
    • B4DTV2
    • Q2M215
    • Q3KU24
    • Q3KU25
    • Q3KU26

    Protein attributes for RXFP1 Gene

    Size:
    757 amino acids
    Molecular mass:
    86975 Da
    Quaternary structure:
    • Interacts with C1QTNF8.

    Three dimensional structures from OCA and Proteopedia for RXFP1 Gene

    Alternative splice isoforms for RXFP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RXFP1 Gene

Post-translational modifications for RXFP1 Gene

  • Glycosylation at Asn36, Asn127, Asn325, Asn264, Asn272, and Asn368
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RXFP1 Gene

Domains & Families for RXFP1 Gene

Gene Families for RXFP1 Gene

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

Protein Domains for RXFP1 Gene

InterPro:
Blocks:
  • Cysteine-rich flanking region, N-terminal
  • Low density lipoprotein-receptor, class A
  • Relaxin receptor family signature
ProtoNet:

Suggested Antigen Peptide Sequences for RXFP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61255, highly similar to Relaxin receptor 1 (B4DHD1_HUMAN)
  • Relaxin family peptide receptor 1 (RXFP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HBX9

UniProtKB/Swiss-Prot:

RXFP1_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 RXFP1: view

Function for RXFP1 Gene

Molecular function for RXFP1 Gene

UniProtKB/Swiss-Prot Function:
Receptor for relaxins. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. Binding of the ligand may also activate a tyrosine kinase pathway that inhibits the activity of a phosphodiesterase that degrades cAMP.

Phenotypes From GWAS Catalog for RXFP1 Gene

Gene Ontology (GO) - Molecular Function for RXFP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA,IDA 11809971
GO:0005515 protein binding IEA,IPI 20664520
GO:0008528 G protein-coupled peptide receptor activity IBA 21873635
GO:0042562 hormone binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RXFP1: view
genes like me logo Genes that share phenotypes with RXFP1: view

Animal Models for RXFP1 Gene

MGI Knock Outs for RXFP1:

Animal Models for research

  • Taconic Biosciences Mouse Models for RXFP1

miRNA for RXFP1 Gene

miRTarBase miRNAs that target RXFP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RXFP1

Clone products for research

  • Addgene plasmids for RXFP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RXFP1 Gene

Localization for RXFP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RXFP1 Gene

Cell membrane. Multi-pass membrane protein.

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 RXFP1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RXFP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RXFP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RXFP1 Gene

Pathways & Interactions for RXFP1 Gene

genes like me logo Genes that share pathways with RXFP1: view

Pathways by source for RXFP1 Gene

2 Qiagen pathways for RXFP1 Gene
  • Activation of PKC through GPCR
  • Relaxin Pathway

SIGNOR curated interactions for RXFP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RXFP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA,TAS --
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway IEA --
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA 21873635
GO:0007190 activation of adenylate cyclase activity IBA 21873635
genes like me logo Genes that share ontologies with RXFP1: view

Drugs & Compounds for RXFP1 Gene

(12) Drugs for RXFP1 Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
B-R13/17K H2 relaxin Pharma Antagonist 0
europium-labelled H2 relaxin Pharma Agonist, Full agonist 0
H1 relaxin Pharma Agonist, Full agonist 0
H2 relaxin Pharma Agonist, Full agonist 0

(2) Additional Compounds for RXFP1 Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>33</sup>P]H2 relaxin
Agonist, Full agonist
genes like me logo Genes that share compounds with RXFP1: view

Transcripts for RXFP1 Gene

mRNA/cDNA for RXFP1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RXFP1

Clone products for research

  • Addgene plasmids for RXFP1

Alternative Splicing Database (ASD) splice patterns (SP) for RXFP1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b · 23c
SP1: - - -
SP2: - - - -
SP3: - - - - - -
SP4: - -
SP5: - - - - -
SP6: - - - - - -
SP7:

Relevant External Links for RXFP1 Gene

GeneLoc Exon Structure for
RXFP1

Expression for RXFP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RXFP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RXFP1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x10.5), Brain - Anterior cingulate cortex (BA24) (x9.4), and Brain - Cortex (x8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RXFP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RXFP1

SOURCE GeneReport for Unigene cluster for RXFP1 Gene:

Hs.591686

mRNA Expression by UniProt/SwissProt for RXFP1 Gene:

Q9HBX9-RXFP1_HUMAN
Tissue specificity: Expressed in the brain, kidney, testis, placenta, uterus, ovary, adrenal, prostate, skin and heart. Not detected in spleen.

Evidence on tissue expression from TISSUES for RXFP1 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with RXFP1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RXFP1 Gene

Orthologs for RXFP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RXFP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RXFP1 30 31
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RXFP1 30 31
  • 92.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RXFP1 30 31
  • 88.99 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RXFP1 31
  • 87 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Rxfp1 30 17 31
  • 85.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rxfp1 30
  • 85.25 (n)
Chicken
(Gallus gallus)
Aves RXFP1 30 31
  • 76.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RXFP1 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rxfp1 30
  • 71.5 (n)
Str.18185 30
Zebrafish
(Danio rerio)
Actinopterygii rxfp1 30 31
  • 64.52 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG34411 30 31
  • 44.11 (n)
ManyToMany
Lgr3 31
  • 31 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta GPRGPH 30
  • 43.19 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 26 (a)
ManyToMany
-- 31
  • 24 (a)
ManyToMany
-- 31
  • 23 (a)
ManyToMany
-- 31
  • 23 (a)
ManyToMany
-- 31
  • 21 (a)
ManyToMany
-- 31
  • 21 (a)
ManyToMany
-- 31
  • 21 (a)
ManyToMany
-- 31
  • 21 (a)
ManyToMany
-- 31
  • 20 (a)
ManyToMany
-- 31
  • 20 (a)
ManyToMany
-- 31
  • 20 (a)
ManyToMany
-- 31
  • 20 (a)
ManyToMany
-- 31
  • 20 (a)
ManyToMany
-- 31
  • 19 (a)
ManyToMany
-- 31
  • 19 (a)
ManyToMany
-- 31
  • 19 (a)
ManyToMany
-- 31
  • 18 (a)
ManyToMany
-- 31
  • 18 (a)
ManyToMany
-- 31
  • 17 (a)
ManyToMany
-- 31
  • 17 (a)
ManyToMany
-- 31
  • 17 (a)
ManyToMany
-- 31
  • 17 (a)
ManyToMany
-- 31
  • 16 (a)
ManyToMany
-- 31
  • 16 (a)
ManyToMany
-- 31
  • 16 (a)
ManyToMany
-- 31
  • 16 (a)
ManyToMany
-- 31
  • 15 (a)
ManyToMany
-- 31
  • 15 (a)
ManyToMany
-- 31
  • 13 (a)
ManyToMany
Species where no ortholog for RXFP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RXFP1 Gene

ENSEMBL:
Gene Tree for RXFP1 (if available)
TreeFam:
Gene Tree for RXFP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RXFP1: view image

Paralogs for RXFP1 Gene

(4) SIMAP similar genes for RXFP1 Gene using alignment to 4 proteins:

  • RXFP1_HUMAN
  • B4DHD1_HUMAN
  • E9PCA3_HUMAN
  • E9PIF0_HUMAN
genes like me logo Genes that share paralogs with RXFP1: view

Variants for RXFP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RXFP1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
974730 Uncertain Significance: Aganglionic megacolon 158,620,033(+) ACTCAGATTTTACAAC
NG_031835.1(PPID):g.103322_138659del

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RXFP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RXFP1 Gene

Variant ID Type Subtype PubMed ID
dgv1536e212 CNV loss 25503493
esv2669435 CNV deletion 23128226
esv2728610 CNV deletion 23290073
esv3569762 CNV loss 25503493
esv3569766 CNV loss 25503493
esv3602833 CNV gain 21293372
nsv830124 CNV gain 17160897

Variation tolerance for RXFP1 Gene

Residual Variation Intolerance Score: 25.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RXFP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RXFP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RXFP1 Gene

Disorders for RXFP1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RXFP1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
endometriosis
placenta accreta
radiation cystitis
  • irradiation cystitis
acrocallosal syndrome
  • acls
cryptorchidism, unilateral or bilateral
  • undescended testis
- elite association - COSMIC cancer census association via MalaCards
Search RXFP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RXFP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RXFP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RXFP1 Gene

Publications for RXFP1 Gene

  1. Identification of the N-linked glycosylation sites of the human relaxin receptor and effect of glycosylation on receptor function. (PMID: 18533687) Yan Y … Bathgate RA (Biochemistry 2008) 3 4 23
  2. The NMR solution structure of the relaxin (RXFP1) receptor lipoprotein receptor class A module and identification of key residues in the N-terminal region of the module that mediate receptor activation. (PMID: 17148455) Hopkins EJ … Gooley PR (The Journal of biological chemistry 2007) 3 4 23
  3. Receptors for relaxin family peptides. (PMID: 15956688) Bathgate RA … Summers RJ (Annals of the New York Academy of Sciences 2005) 2 3 23
  4. H3 relaxin is a specific ligand for LGR7 and activates the receptor by interacting with both the ectodomain and the exoloop 2. (PMID: 12506116) Sudo S … Hsueh AJ (The Journal of biological chemistry 2003) 3 4 23
  5. C1q-tumour necrosis factor-related protein 8 (CTRP8) is a novel interaction partner of relaxin receptor RXFP1 in human brain cancer cells. (PMID: 24014093) Glogowska A … Klonisch T (The Journal of pathology 2013) 3 4

Products for RXFP1 Gene

Sources for RXFP1 Gene