RXFP1 (relaxin family peptide receptor 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 59350
Gene name Relaxin family peptide receptor 1
Gene symbol RXFP1
Synonyms (NCBI Gene)
LGR7RXFPR1
Chromosome 4
Chromosome location 4q32.1
Summary 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 h
miRNA miRNA information provided by mirtarbase database.
5
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT023171 hsa-miR-124-3p Microarray 18668037
MIRT024094 hsa-miR-1-3p Microarray 18668037
MIRT1323241 hsa-miR-3646 CLIP-seq
MIRT1323242 hsa-miR-3942-3p CLIP-seq
MIRT1323243 hsa-miR-759 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IDA 11809971
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005515 Function Protein binding IPI 20664520, 24014093
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606654 19718 ENSG00000171509
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HBX9
Protein name Relaxin receptor 1 (Leucine-rich repeat-containing G-protein coupled receptor 7) (Relaxin family peptide receptor 1)
Protein 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
PDB 2JM4 , 2M7P , 7TMW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a 25 → 62 Low-density lipoprotein receptor domain class A Repeat
PF13855 LRR_8 126 → 186 Leucine rich repeat Repeat
PF13855 LRR_8 175 → 234 Leucine rich repeat Repeat
PF13855 LRR_8 247 → 307 Leucine rich repeat Repeat
PF00001 7tm_1 422 → 681 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain, kidney, testis, placenta, uterus, ovary, adrenal, prostate, skin and heart. Not detected in spleen. {ECO:0000269|PubMed:16051677}.
Sequence 
MTSGSVFFYILIFGKYFSHGGGQDVKCSLGYFPCGNITKCLPQLLHCNGVDDCGNQADED
NCGDNNGWSLQFDKYFASYYKMTSQYPFEAETPECLVGSVPVQCLCQGLELDCDETNLRA
VPSVSSNVTAMSLQWNLIRKLPPDCFKNYHDLQKLYLQNNKITSISIYAFRGLNSLTKLY
LSHNRITFLKPGVFEDLHRLEWLIIEDNHLSRISPPTFYGLNSLILLVLMNNVLTRLPDK
PLCQHMPRLHWLDLEGNHIHNLRNLTFISCSNLTVLVMRKNKINHLNENTFAPLQKLDEL
DLGSNKIENLPPLIFKDLKELSQLNLSYNPIQKIQANQFDYLVKLKSLSLEGIEISNIQQ
RMFRPLMNLSHIYFKKFQYCGYAPHVRSCKPNTDGISSLENLLASIIQRVFVWVVSAVTC
FGNIFVICMRPYIRSENKLYAMSIISLCCADCLMGIYLFVIGGFDLKFRGEYNKHAQLWM
ESTHCQLVGSLAILSTEVSVLLLTFLTLEKYICIVYPFRCVRPGKCRTITVLILIWITGF
IVAFIPLSNKEFFKNYYGTNGVCFPLHSEDTESIGAQIYSVAIFLGINLAAFIIIVFSYG
SMFYSVHQSAITATEIRNQVKKEMILAKRFFFIVFTDALCWIPIFVVKFLSLLQVEIPGT
ITSWVVIFILPINSALNPILYTLTTRPFKEMIHRFWYNYRQRKSMDSKGQKTYAPSFIWV
EMWPLQEMPPELMKPDLFTYPCEMSLISQSTRLNSYS
Sequence length 757
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Relaxin signaling pathway 		  G alpha (s) signalling events
Relaxin receptors
ADORA2B mediated anti-inflammatory cytokines production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (46)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 16877360
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 29949238
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 29949238 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
C-cell hyperplasia of thyroid Thyroid Hyperplasia BEFREE 15956746
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30542454
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral Vasospasm Cerebral Vasospasm BEFREE 25133183
★★★★★
★☆☆☆☆
Found in Text Mining only
CREST Syndrome CREST Syndrome BEFREE 31365333
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 16322684, 30126180
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 16322684, 30126180 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometrioma Endometrioma CTD_human_DG 21063030
★★★★★
★☆☆☆☆
Found in Text Mining only