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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]
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.
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 |
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide ligand-binding receptors | ||
2 | Signaling by GPCR | ||
3 | Relaxin signaling pathway | ||
4 | CREB Pathway |
Activation of PKC through GPCR
.63
|
|
5 | G-Beta Gamma Signaling |
Relaxin Pathway
.37
|
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
[<sup>33</sup>P]H2 relaxin |
|
Agonist, Full agonist |
|
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RXFP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RXFP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RXFP1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RXFP1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Rxfp1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rxfp1 30 |
|
||
Chicken (Gallus gallus) |
Aves | RXFP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RXFP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rxfp1 30 |
|
||
Str.18185 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | rxfp1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG34411 30 31 |
|
ManyToMany | |
Lgr3 31 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | GPRGPH 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
endometriosis |
|
|
placenta accreta |
|
|
radiation cystitis |
|
|
acrocallosal syndrome |
|
|
cryptorchidism, unilateral or bilateral |
|
|