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RXFP1 relaxin family peptide receptor 1 [ Homo sapiens (human) ]

Gene ID: 59350, updated on 3-May-2020

Summary

Official Symbol
RXFP1provided by HGNC
Official Full Name
relaxin family peptide receptor 1provided by HGNC
Primary source
HGNC:HGNC:19718
See related
Ensembl:ENSG00000171509 MIM:606654
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LGR7; RXFPR1
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 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]
Expression
Biased expression in brain (RPKM 6.2), endometrium (RPKM 3.9) and 7 other tissues See more
Orthologs

Genomic context

See RXFP1 in Genome Data Viewer
Location:
4q32.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (158521711..158653372)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (159442866..159574524)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U4 small nuclear 79, pseudogene Neighboring gene GC-rich promoter binding protein 1 pseudogene Neighboring gene chromosome 4 open reading frame 46 Neighboring gene electron transfer flavoprotein dehydrogenase Neighboring gene peptidylprolyl isomerase D

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138347, MGC142177

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
activation of adenylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hormone-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
relaxin receptor 1
Names
leucine-rich repeat-containing G protein-coupled receptor 7
relaxin/insulin like family peptide receptor 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031835.2 RefSeqGene

    Range
    5169..136659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001253727.1NP_001240656.1  relaxin receptor 1 isoform 2

    See identical proteins and their annotated locations for NP_001240656.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
    Source sequence(s)
    AK294694, BX647980, BX647985, DC334052
    Consensus CDS
    CCDS75204.1
    UniProtKB/TrEMBL
    B4DGP2
    Related
    ENSP00000405841.2, ENST00000423548.5
    Conserved Domains (5) summary
    cd00112
    Location:2762
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00116
    Location:196358
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:155178
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:451708
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam13855
    Location:179237
    LRR_8; Leucine rich repeat
  2. NM_001253728.2NP_001240657.1  relaxin receptor 1 isoform 3

    See identical proteins and their annotated locations for NP_001240657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AK300379, BX647980
    Consensus CDS
    CCDS58930.1
    UniProtKB/Swiss-Prot
    Q9HBX9
    Related
    ENSP00000420712.1, ENST00000470033.2
    Conserved Domains (5) summary
    cd00112
    Location:2762
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00116
    Location:136298
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:95118
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:391648
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam13855
    Location:119177
    LRR_8; Leucine rich repeat
  3. NM_001253729.2NP_001240658.1  relaxin receptor 1 isoform 4

    See identical proteins and their annotated locations for NP_001240658.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AY899849, BX647980, BX647985
    Consensus CDS
    CCDS58929.1
    UniProtKB/Swiss-Prot
    Q9HBX9
    Related
    ENSP00000345889.5, ENST00000343542.9
    Conserved Domains (6) summary
    cd00112
    Location:2762
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00116
    Location:169309
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:128151
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:376633
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam12799
    Location:152191
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:152210
    LRR_8; Leucine rich repeat
  4. NM_001253730.1NP_001240659.1  relaxin receptor 1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon, uses two alternate splice sites and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BC143559, BX647980, BX647985, DC334052
    Consensus CDS
    CCDS75205.1
    UniProtKB/TrEMBL
    A0A087WWV0
    Related
    ENSP00000480522.1, ENST00000613319.4
    Conserved Domains (4) summary
    sd00033
    Location:121
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:2280
    LRR_8; Leucine rich repeat
    cd15965
    Location:275561
    7tmA_RXFP1_LGR7; relaxin receptor 1 (or LGR7), member of the class A family of seven-transmembrane G protein-coupled receptors
    cl26161
    Location:39201
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
  5. NM_001253732.2NP_001240661.1  relaxin receptor 1 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) includes an alternate internal exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (6) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AB208943, BX647980, BX647985, DA308373
    UniProtKB/TrEMBL
    Q59H16
    Conserved Domains (4) summary
    sd00033
    Location:2443
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:2478
    LRR_8; Leucine rich repeat
    cd15965
    Location:274560
    7tmA_RXFP1_LGR7; relaxin receptor 1 (or LGR7), member of the class A family of seven-transmembrane G protein-coupled receptors
    cl26161
    Location:9199
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
  6. NM_001253733.1NP_001240662.1  relaxin receptor 1 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an internal exon, includes an alternate internal exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (7) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK122647, AK312470, BX647980, DA241507, DC334052
    Consensus CDS
    CCDS75206.1
    UniProtKB/TrEMBL
    A0A0A0MT52, B3KV27
    Related
    ENSP00000414885.3, ENST00000448688.6
    Conserved Domains (3) summary
    sd00033
    Location:2443
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:2478
    LRR_8; Leucine rich repeat
    cd15965
    Location:250536
    7tmA_RXFP1_LGR7; relaxin receptor 1 (or LGR7), member of the class A family of seven-transmembrane G protein-coupled receptors
  7. NM_001363776.1NP_001350705.1  relaxin receptor 1 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (8) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC019341, AC107219, AC108017, AC121161
    Consensus CDS
    CCDS87277.1
    Related
    ENSP00000423306.1, ENST00000460056.6
    Conserved Domains (3) summary
    sd00033
    Location:4770
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:71129
    LRR_8; Leucine rich repeat
    cd15965
    Location:325611
    7tmA_RXFP1_LGR7; relaxin receptor 1 (or LGR7), member of the class A family of seven-transmembrane G protein-coupled receptors
  8. NM_021634.4NP_067647.2  relaxin receptor 1 isoform 1

    See identical proteins and their annotated locations for NP_067647.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    BX647980
    Consensus CDS
    CCDS43276.1
    UniProtKB/Swiss-Prot
    Q9HBX9
    Related
    ENSP00000303248.5, ENST00000307765.10
    Conserved Domains (4) summary
    cd00112
    Location:2762
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    sd00033
    Location:128151
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:152210
    LRR_8; Leucine rich repeat
    cd15965
    Location:406692
    7tmA_RXFP1_LGR7; relaxin receptor 1 (or LGR7), member of the class A family of seven-transmembrane G protein-coupled receptors

RNA

  1. NR_045579.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an exon and includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK295040, BX647980, BX647985, DA519897
  2. NR_045580.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate internal splice site, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC143558, BX647980, BX647985
  3. NR_045581.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) uses an alternate internal splice site, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC143556, BX647980, BX647985
    Related
    ENST00000342048.9
  4. NR_045582.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks two consecutive internal exons and uses two alternate splice sites, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC143557, BX647980, BX647985
  5. NR_045583.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) lacks an internal exon and uses two alternate splice sites, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK307889, BX647980, CR748189
  6. NR_045584.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) contains an alternate internal exon and an alternate terminal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI653269, AY899848, BX647985, DA156504
    Related
    ENST00000471616.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    158521711..158653372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008525.1XP_016864014.1  relaxin receptor 1 isoform X12

  2. XM_017008520.1XP_016864009.1  relaxin receptor 1 isoform X6

    Conserved Domains (3) summary
    sd00033
    Location:7497
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:98156
    LRR_8; Leucine rich repeat
    cd15965
    Location:352638
    7tmA_RXFP1_LGR7; relaxin receptor 1 (or LGR7), member of the class A family of seven-transmembrane G protein-coupled receptors
  3. XM_017008522.1XP_016864011.1  relaxin receptor 1 isoform X8

  4. XM_011532174.1XP_011530476.1  relaxin receptor 1 isoform X1

    Conserved Domains (5) summary
    cd00112
    Location:2762
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00116
    Location:196358
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:155178
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:450707
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam13855
    Location:179237
    LRR_8; Leucine rich repeat
  5. XM_011532179.2XP_011530481.1  relaxin receptor 1 isoform X9

    Conserved Domains (4) summary
    cd00112
    Location:2762
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00116
    Location:196358
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:155178
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:179237
    LRR_8; Leucine rich repeat
  6. XM_011532175.1XP_011530477.1  relaxin receptor 1 isoform X2

    Conserved Domains (5) summary
    cd00112
    Location:2762
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00116
    Location:167334
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:155178
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:427684
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam13855
    Location:179237
    LRR_8; Leucine rich repeat
  7. XM_017008517.1XP_016864006.1  relaxin receptor 1 isoform X3

  8. XM_017008523.2XP_016864012.1  relaxin receptor 1 isoform X10

  9. XM_017008518.2XP_016864007.1  relaxin receptor 1 isoform X4

  10. XM_011532176.2XP_011530478.1  relaxin receptor 1 isoform X5

    Conserved Domains (5) summary
    cd00112
    Location:2762
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00116
    Location:140307
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:128151
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:400657
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam13855
    Location:152210
    LRR_8; Leucine rich repeat
  11. XM_017008524.2XP_016864013.1  relaxin receptor 1 isoform X11

  12. XM_017008519.1XP_016864008.1  relaxin receptor 1 isoform X6

    Conserved Domains (3) summary
    sd00033
    Location:7497
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:98156
    LRR_8; Leucine rich repeat
    cd15965
    Location:352638
    7tmA_RXFP1_LGR7; relaxin receptor 1 (or LGR7), member of the class A family of seven-transmembrane G protein-coupled receptors
  13. XM_017008526.1XP_016864015.1  relaxin receptor 1 isoform X13

    UniProtKB/TrEMBL
    A0A0A0MT52
    Conserved Domains (3) summary
    sd00033
    Location:2443
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:2478
    LRR_8; Leucine rich repeat
    cd15965
    Location:250536
    7tmA_RXFP1_LGR7; relaxin receptor 1 (or LGR7), member of the class A family of seven-transmembrane G protein-coupled receptors
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