• Gene id: 59350

Gene Summary

• Gene Symbol: RXFP1   Gene   UCSC   Ensembl
• Aliases: LGR7, RXFPR1
• Gene name: relaxin family peptide receptor 1
• Alternate names: relaxin receptor 1, leucine-rich repeat-containing G protein-coupled receptor 7, relaxin/insulin like family peptide receptor 1,
• Gene location: 4q32.1 (158521710: 158653371)     Exons: 23     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 606654

Protein Summary

• Protein general information: Q9HBX9  
  • Name: Relaxin receptor 1 (Leucine rich repeat containing G protein coupled receptor 7) (Relaxin family peptide receptor 1)
  • Length: 757  
  • Mass: 86975
  • Tissue specificity: Expressed in the brain, kidney, testis, placenta, uterus, ovary, adrenal, prostate, skin and heart. Not detected in spleen. {ECO
• Sequence:

  MTSGSVFFYILIFGKYFSHGGGQDVKCSLGYFPCGNITKCLPQLLHCNGVDDCGNQADEDNCGDNNGWSLQFDKY
  FASYYKMTSQYPFEAETPECLVGSVPVQCLCQGLELDCDETNLRAVPSVSSNVTAMSLQWNLIRKLPPDCFKNYH
  DLQKLYLQNNKITSISIYAFRGLNSLTKLYLSHNRITFLKPGVFEDLHRLEWLIIEDNHLSRISPPTFYGLNSLI
  LLVLMNNVLTRLPDKPLCQHMPRLHWLDLEGNHIHNLRNLTFISCSNLTVLVMRKNKINHLNENTFAPLQKLDEL
  DLGSNKIENLPPLIFKDLKELSQLNLSYNPIQKIQANQFDYLVKLKSLSLEGIEISNIQQRMFRPLMNLSHIYFK
  KFQYCGYAPHVRSCKPNTDGISSLENLLASIIQRVFVWVVSAVTCFGNIFVICMRPYIRSENKLYAMSIISLCCA
  DCLMGIYLFVIGGFDLKFRGEYNKHAQLWMESTHCQLVGSLAILSTEVSVLLLTFLTLEKYICIVYPFRCVRPGK
  CRTITVLILIWITGFIVAFIPLSNKEFFKNYYGTNGVCFPLHSEDTESIGAQIYSVAIFLGINLAAFIIIVFSYG
  SMFYSVHQSAITATEIRNQVKKEMILAKRFFFIVFTDALCWIPIFVVKFLSLLQVEIPGTITSWVVIFILPINSA
  LNPILYTLTTRPFKEMIHRFWYNYRQRKSMDSKGQKTYAPSFIWVEMWPLQEMPPELMKPDLFTYPCEMSLISQS
  TRLNSYS

• Structural information:
  • Protein Domains: (26..6-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (91..12-)
    (/note="LRRNT"-)
  • Interpro: IPR000276  IPR017452  IPR036055  IPR023415  IPR002172   IPR001611  IPR003591  IPR032675  IPR008112  
  • Prosite: PS50262 PS01209 PS50068 PS51450
  • CDD: cd00112
  • PDB: 2JM4 2M7P
  • PDBsum: 2JM4 2M7P
  • STRING: ENSP00000405841
• Other Databases: GeneCards:  RXFP1  Malacards:  RXFP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0008528	G protein-coupled peptide receptor activity	IBA	molecular function
GO:0007190	activation of adenylate cyclase activity	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IDA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04926	Relaxin signaling pathway

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray