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Aliases for RXFP1 Gene

Aliases for RXFP1 Gene

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

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/Insulin Like Family Peptide Receptor 1) is a Protein Coding gene. Diseases associated with RXFP1 include Endometriosis. Among its related pathways are G alpha (s) signalling events and Signaling by GPCR. 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 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

Additional gene information for RXFP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RXFP1 Gene

Genomics for RXFP1 Gene

Regulatory Elements for RXFP1 Gene

Enhancers for RXFP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H158371 0.5 ENCODE 10.8 +56.1 56053 0 JUND JUN CEBPB FOS EP300 RNU4-79P RXFP1 LOC105377510
GH04H158274 0.2 ENCODE 10.5 -40.2 -40208 0 RXFP1 LOC646890
GH04H158312 0.9 Ensembl ENCODE 0.7 -0.4 -419 4 STAT1 JUN CEBPB EP300 JUND GATA3 FOS RUNX3 IKZF2 SPI1 LOC646890 TMEM144 RXFP1
GH04H158298 0.6 ENCODE 0.4 -15.5 -15488 2 SOX13 ZFP64 PPARG EP300 RFX5 HNF1A HMBOX1 RCOR1 HNF4A LOC646890 RXFP1
GH04H158301 0.5 ENCODE 0.4 -12.8 -12816 1 GATA3 CEBPB KLF4 LOC646890 RXFP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RXFP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RXFP1 Gene

Chromosome:
4
Start:
158,315,311 bp from pter
End:
158,653,372 bp from pter
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:
    No Data Available

    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, isoforms=2, 4264, isoforms=2, 4272, Asn325, and Asn368
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Suggested Antigen Peptide Sequences for RXFP1 Gene

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 IDA,IEA 11809971
GO:0005515 protein binding IPI 20664520
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 Model Products

  • Taconic Biosciences Mouse Models for RXFP1

CRISPR Products

miRNA for RXFP1 Gene

miRTarBase miRNAs that target RXFP1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RXFP1
  • Applied Biological Materials Clones for RXFP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 1

Gene Ontology (GO) - Cellular Components for RXFP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IBA --
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

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 --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA,IEA --
GO:0007567 parturition IEA --
GO:0030154 cell differentiation IEA --
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 Full agonist, Agonist 0
H1 relaxin Pharma Full agonist, Agonist 0
H2 relaxin Pharma Full agonist, 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
Full agonist, Agonist
genes like me logo Genes that share compounds with RXFP1: view

Transcripts for RXFP1 Gene

Unigene Clusters for RXFP1 Gene

Relaxin/insulin-like family peptide receptor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RXFP1
  • Applied Biological Materials Clones for RXFP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
RXFP1

Expression for RXFP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for RXFP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of RXFP1 Gene:

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(4.6)
genes like me logo Genes that share expression patterns with RXFP1: view

Primer Products

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 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia RXFP1 33 34
  • 92.16 (n)
cow
(Bos Taurus)
Mammalia RXFP1 33 34
  • 88.99 (n)
oppossum
(Monodelphis domestica)
Mammalia RXFP1 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rxfp1 33 16 34
  • 85.73 (n)
rat
(Rattus norvegicus)
Mammalia Rxfp1 33
  • 85.25 (n)
chicken
(Gallus gallus)
Aves RXFP1 33 34
  • 76.1 (n)
lizard
(Anolis carolinensis)
Reptilia RXFP1 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rxfp1 33
  • 71.5 (n)
Str.18185 33
zebrafish
(Danio rerio)
Actinopterygii rxfp1 33 34
  • 64.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG34411 33 34
  • 44.11 (n)
Lgr3 34
  • 31 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta GPRGPH 33
  • 43.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
-- 34
  • 21 (a)
ManyToMany
-- 34
  • 21 (a)
ManyToMany
-- 34
  • 21 (a)
ManyToMany
-- 34
  • 21 (a)
ManyToMany
-- 34
  • 20 (a)
ManyToMany
-- 34
  • 20 (a)
ManyToMany
-- 34
  • 20 (a)
ManyToMany
-- 34
  • 20 (a)
ManyToMany
-- 34
  • 20 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
-- 34
  • 18 (a)
ManyToMany
-- 34
  • 18 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
-- 34
  • 16 (a)
ManyToMany
-- 34
  • 16 (a)
ManyToMany
-- 34
  • 16 (a)
ManyToMany
-- 34
  • 16 (a)
ManyToMany
-- 34
  • 15 (a)
ManyToMany
-- 34
  • 15 (a)
ManyToMany
-- 34
  • 13 (a)
ManyToMany
Species where no ortholog for RXFP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for RXFP1 Gene

Paralogs for RXFP1 Gene

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

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

Variants for RXFP1 Gene

Sequence variations from dbSNP and Humsavar for RXFP1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000001207 -- 158,537,443(+) GTCTT(G/T)GTGGA intron-variant
rs10000021 -- 158,520,305(+) TGAGA(G/T)ATTAA upstream-variant-2KB
rs1000069684 -- 158,526,931(+) TCAAC(C/T)CCTCC intron-variant
rs1000076956 -- 158,575,838(+) TATCA(A/G)TTAGC intron-variant
rs1000080262 -- 158,620,343(+) AAATG(C/T)GTAAA intron-variant

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)

Relevant External Links for RXFP1 Gene

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

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

Disorders for RXFP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RXFP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
endometriosis
- elite association - COSMIC cancer census association via MalaCards
Search RXFP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RXFP1

Genetic Association Database (GAD)
RXFP1
Human Genome Epidemiology (HuGE) Navigator
RXFP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RXFP1
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 22 60
  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 22 60
  3. Receptors for relaxin family peptides. (PMID: 15956688) Bathgate RA … Summers RJ (Annals of the New York Academy of Sciences 2005) 2 3 22 60
  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 22 60
  5. Relaxin signaling activates peroxisome proliferator-activated receptor gamma. (PMID: 19712722) Singh S … Bennett RG (Molecular and cellular endocrinology 2010) 3 22 60

Products for RXFP1 Gene

  • Addgene plasmids for RXFP1

Sources for RXFP1 Gene

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