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Gene id

59350

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (183023459: 183145591) Exons: 28 NC_000001.11

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 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]

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: 86,975

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	LDL-receptor (26-63) LRRNT. (91-127)
Interpro:	IPR000276 IPR017452 IPR036055 IPR023415 IPR002172 IPR001611 IPR003591 IPR032675 IPR008112
Prosite:	PS50262 PS01209 PS50068 PS51450
Pfam:	PF00001 PF00057 PF13855
CDD:	cd00112
PDB:	2JM4 2M7P
PDBsum:	2JM4 2M7P
MINT:
STRING:	ENSP00000303248;

Other Databases

GeneCards: RXFP1; Malacards: RXFP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004930	G-protein coupled recepto r activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IBA	cellular_component
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:0007188	adenylate cyclase-modulat ing G-protein coupled rec eptor signaling pathway	IBA	biological_process
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0046872	metal ion binding	IEA	molecular_function
GO:0004871	signal transducer activit y	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IBA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
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:0007165	signal transduction	IEA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007188	adenylate cyclase-modulat ing G-protein coupled rec eptor signaling pathway	IBA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0046872	metal ion binding	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IBA	cellular_component
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:0007188	adenylate cyclase-modulat ing G-protein coupled rec eptor signaling pathway	IBA	biological_process

KEGG pathways

hsa04926 Relaxin signaling pathway
hsa04080 Neuroactive ligand-receptor interaction

Diseases

Associated diseases	References
Diabetes	GAD18075289
Endometriosis	PubMed19416175

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19416175	Endometrio sis						Show abstract