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FLASH GENE
Symbol RXFP1 contributors: mct/npt - updated : 29-11-2014
HGNC name relaxin/insulin-like family peptide receptor 1
HGNC id 19718
DNA
TYPE breakpoint
STRUCTURE 131.66 kb     18 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 3874 - 757 - 2008 18079195
- - 1775 - 189 - 2008 18079195
  • higher in the chorion and decidua before, compared with after, spontaneous labor
  • could be functionally significant in the peripartal period by inhibiting the function of WT-LGR7 and dampening the responsiveness of these tissues to endogenous relaxin
  • retained within the endoplasmic reticulum but also secreted into the medium
  • C-terminal deleted RXFP1 variant had a similar level of constitutive agonist-independent internalization as the wild-type RXFP1 but lost sensitivity to agonist stimulation
  • 17 - 3796 - 626 - 2008 18079195
    18 - 3955 - 784 - 2008 18079195
    19 - 3958 - 625 - 2008 18079195
    16 - 3730 - 709 - 2008 18079195
  • LGR 7-2
  • higher in the chorion and decidua before, compared with after, spontaneous labor
  • could be functionally significant in the peripartal period by inhibiting the function of WT-LGR7 and dampening the responsiveness of these tissues to endogenous relaxin
  • retained within the endoplasmic reticulum
  • 17 - 3775 - 724 - 2008 18079195
  • LGR 7-10
  • higher in the chorion and decidua before, compared with after, spontaneous labor
  • could be functionally significant in the peripartal period by inhibiting the function of WT-LGR7 and dampening the responsiveness of these tissues to endogenous relaxin
  • retained within the endoplasmic reticulum
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonhypothalamus   Homo sapiens
    Reproductivefemale systemuterus    Homo sapiens
     male systemtestis  highly Homo sapiens
     male systemmale genital tractvas deferens highly Homo sapiens
    Visualeyeanterior segmentconjunctiva   Homo sapiens
     eyeanterior segmentcornea   Homo sapiens
     eyelacrimal gland    Homo sapiens
     eyepalpebra    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningendometrium   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell
    ReproductiveSertoli cell
    Reproductivespermatid
    Skeletonosteoclast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a low density lipoprotein receptor cysteine-rich motif, class A (LDL-A) module at the N terminus, influencing receptor maturation, cell surface expression, and relaxin-activated signal transduction, and essential for receptor activation
  • 10 LRR domains
  • six putative Asn-linked glycosylation sites in the ectodomain at positions Asn-14, Asn-105, Asn-242, Asn-250, Asn-303, and Asn-346 (Yan 2008)
  • seven transmembrane region
  • a unique C-terminal tail with LDLa module and a phosphorylation site, important in agonist-stimulated receptor internalization (Kern 2009), and four acidic AAs in the C-terminal region of the RXFP1 LDLa with the ligand binding domain (LB2) modules whose ligation of a Ca2+ is crucial for maintaining structural integrity
  • secondary structure
  • large extracellular domain containing the characteristic leucine-rich repeats formed by alph-helices and beta-sheets (
  • mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • leucine-rich repeat containing G protein-coupled receptors subgroup C
  • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • homodimerization of WT-LGR7 has been shown here to take place in the endoplasmic reticulum (Kern 2008)
  • nonsecretory adaptor protein that localizes to endosomal vesicles (Del Fattore2008)
  • basic FUNCTION
  • relaxin receptor having rhodopsin-like receptor activity
  • forms dimers/oligomers during its biosynthesis and trafficking to the plasma membrane (Kern 2009)
  • membrane receptor, critically involved in relaxin agonist interaction with glucocorticoid receptor (GR) (Dschietzig 2009)
  • on spermatids and Sertoli cells may be important in spermatogenesis (Filonzi 2007)
  • cognate relaxin receptor that mainly signals through cyclic AMP second messenger.
  • RXFP1 and RXFP2 are unique in both the leucine-rich repeat-containing GPCR and GPCR family in that they have a low density lipoprotein receptor (LDLr) class A (LDLa) module at their N termini (pMID: 23926099)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • receptor for relaxins (RLN1 and RLN2)
  • RLN3 is thought to act in the brain via the RXFP3 receptor, although the RXFP1 receptor may also play a role
  • RLN3 exerts antifibrotic actions via RXFP1 and may enhance the collagen-inhibitory effects of RLN2
  • relaxin mediated activation of RXFP1 requires multiple, coordinated interactions between the ligand and various receptor domains including a high affinity interaction involving the LRRs, and a predicted lower affinity interaction involving the extracellular loops (ELs)
  • cell & other
    REGULATION
    induced by relaxin in osteoclasts (Ferlin 2010)
    Other regulated by the LDLa module (essential role in RXFP2 and RXFP1 function)
    regulated by N-glycosylation (N-glycosylation is essential for the transport of the receptor to the cell surface and likely glycosylation is also essential for the conformational changes required for G-protein coupling and subsequent cAMP signaling) (Yan 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in endometrium during the secretory phase of the menstrual cycle
    constitutional     --low  
    in scleroderma skin, with a lack of staining in most cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS