Human Gene RXFP1 (ENST00000307765.10) from GENCODE V44
  Description: Homo sapiens relaxin family peptide receptor 1 (RXFP1), transcript variant 12, non-coding RNA. (from RefSeq NR_045583)
RefSeq Summary (NM_021634): 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].
Gencode Transcript: ENST00000307765.10
Gencode Gene: ENSG00000171509.16
Transcript (Including UTRs)
   Position: hg38 chr4:158,521,882-158,653,372 Size: 131,491 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg38 chr4:158,521,977-158,652,055 Size: 130,079 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:158,521,882-158,653,372)mRNA (may differ from genome)Protein (757 aa)
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BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RXFP1_HUMAN
DESCRIPTION: RecName: Full=Relaxin receptor 1; AltName: Full=Leucine-rich repeat-containing G-protein coupled receptor 7; AltName: Full=Relaxin family peptide receptor 1;
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.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Expressed in the brain, kidney, testis, placenta, uterus, ovary, adrenal, prostate, skin and heart. Not detected in spleen.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
SIMILARITY: Contains 1 LDL-receptor class A domain.
SIMILARITY: Contains 9 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 LRRNT domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RXFP1
Diseases sorted by gene-association score: endometriosis (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.30 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 21.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.4095-0.120 Picture PostScript Text
3' UTR -290.901317-0.221 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR017452 - GPCR_Rhodpsn_supfam
IPR023415 - LDLR_class-A_CS
IPR002172 - LDrepeatLR_classA_rpt
IPR001611 - Leu-rich_rpt
IPR003591 - Leu-rich_rpt_typical-subtyp
IPR000372 - LRR-contain_N
IPR008112 - Relaxin_rcpt

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)
PF00057 - Low-density lipoprotein receptor domain class A

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2JM4 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9HBX9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK122647 - Homo sapiens cDNA FLJ16077 fis, clone MESAN2007440, highly similar to Relaxin receptor 1.
BX647985 - Homo sapiens mRNA; cDNA DKFZp686M0152 (from clone DKFZp686M0152).
BX647975 - Homo sapiens mRNA; cDNA DKFZp686G1052 (from clone DKFZp686G1052).
BX647980 - Homo sapiens mRNA; cDNA DKFZp686I1552 (from clone DKFZp686I1552).
AK307889 - Homo sapiens cDNA, FLJ97837.
AK300379 - Homo sapiens cDNA FLJ53293 complete cds, highly similar to Relaxin receptor 1.
AK312470 - Homo sapiens cDNA, FLJ92826.
AK295040 - Homo sapiens cDNA FLJ61255 complete cds, highly similar to Relaxin receptor 1.
BC113617 - Homo sapiens relaxin/insulin-like family peptide receptor 1, mRNA (cDNA clone MGC:142177 IMAGE:8322669), complete cds.
BC143557 - Homo sapiens cDNA clone IMAGE:9052068, with apparent retained intron.
BC143558 - Homo sapiens cDNA clone IMAGE:9052069.
BC143559 - Homo sapiens cDNA clone IMAGE:9052070.
BC112142 - Homo sapiens relaxin/insulin-like family peptide receptor 1, mRNA (cDNA clone MGC:138347 IMAGE:8327610), complete cds.
BC143556 - Homo sapiens cDNA clone IMAGE:9052067.
AK294694 - Homo sapiens cDNA FLJ53318 complete cds, highly similar to Relaxin receptor 1.
AB208943 - Homo sapiens mRNA for leucine-rich repeat-containing G protein-coupled receptor 7 variant protein.
AY899848 - Homo sapiens LGR7.1 mRNA, complete cds, alternatively spliced.
HQ258496 - Synthetic construct Homo sapiens clone IMAGE:100072925 relaxin/insulin-like family peptide receptor 1 (RXFP1) (RXFP1) gene, encodes complete protein.
KJ894486 - Synthetic construct Homo sapiens clone ccsbBroadEn_03880 RXFP1 gene, encodes complete protein.
AF190500 - Homo sapiens leucine-rich repeat-containing G protein-coupled receptor 7 (LGR7) mRNA, complete cds.
AY899849 - Homo sapiens LGR7.2 mRNA, complete cds, alternatively spliced.
AY899850 - Homo sapiens LGR7.10 mRNA, complete cds, alternatively spliced.
MB483341 - JP 2019528312-A/2: MRNA-MEDIATED IMMUNIZATION METHODS.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein Q9HBX9 (Reactome details) participates in the following event(s):

R-HSA-444838 Relaxin receptor 1 binds relaxin 2 and 3
R-HSA-744886 The Ligand:GPCR:Gs complex dissociates
R-HSA-744887 Liganded Gs-activating GPCRs bind inactive heterotrimeric Gs
R-HSA-379044 Liganded Gs-activating GPCR acts as a GEF for Gs
R-HSA-444821 Relaxin receptors
R-HSA-418555 G alpha (s) signalling events
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-388396 GPCR downstream signalling
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-372790 Signaling by GPCR
R-HSA-500792 GPCR ligand binding
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B4DTV2, ENST00000307765.1, ENST00000307765.2, ENST00000307765.3, ENST00000307765.4, ENST00000307765.5, ENST00000307765.6, ENST00000307765.7, ENST00000307765.8, ENST00000307765.9, LGR7, NR_045583, Q2M215, Q3KU24, Q3KU25, Q3KU26, Q9HBX9, RXFP1_HUMAN, uc003ipz.1, uc003ipz.2, uc003ipz.3, uc003ipz.4, uc003ipz.5
UCSC ID: ENST00000307765.10
RefSeq Accession: NM_021634
Protein: Q9HBX9 (aka RXFP1_HUMAN)
CCDS: CCDS43276.1, CCDS58930.1, CCDS75204.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.