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    RLN1 relaxin 1 [ Homo sapiens (human) ]

    Gene ID: 6013, updated on 5-Mar-2024

    Summary

    Official Symbol
    RLN1provided by HGNC
    Official Full Name
    relaxin 1provided by HGNC
    Primary source
    HGNC:HGNC:10026
    See related
    Ensembl:ENSG00000107018 MIM:179730; AllianceGenome:HGNC:10026
    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
    H1; H1RLX; RLXH1; bA12D24.3.1; bA12D24.3.2
    Summary
    Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013]
    Expression
    Biased expression in prostate (RPKM 8.0) and testis (RPKM 0.2) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See RLN1 in Genome Data Viewer
    Location:
    9p24.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (5334930..5340916, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (5340023..5345993, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (5334930..5339876, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene INSL4 promoter region Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:5269083-5269618 Neighboring gene insulin like 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:5293254-5293796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28157 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:5327251-5327751 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 31 Neighboring gene relaxin 2 Neighboring gene plasminogen receptor with a C-terminal lysine Neighboring gene ReSE screen-validated silencer GRCh37_chr9:5418516-5418928 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:5437227-5438426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28159 Neighboring gene ring finger protein 152 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28161 Neighboring gene uncharacterized LOC124902114 Neighboring gene Sharpr-MPRA regulatory region 9164 Neighboring gene CD274 molecule

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in female pregnancy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    prorelaxin H1
    Names
    preprorelaxin H1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_006911.4NP_008842.1  prorelaxin H1 preproprotein

      See identical proteins and their annotated locations for NP_008842.1

      Status: REVIEWED

      Source sequence(s)
      AI363233, AL135786, AV742436, BC005956
      Consensus CDS
      CCDS6462.1
      UniProtKB/Swiss-Prot
      P04808, Q99936, Q9UQJ1
      Related
      ENSP00000223862.1, ENST00000223862.2
      Conserved Domains (1) summary
      cd04365
      Location:31185
      IlGF_relaxin_like; IlGF_like family, relaxin_like subgroup, specific to vertebrates. Members include a number of active peptides including (pro)relaxin, mammalian Leydig cell-specific insulin-like peptide (gene INSL3), early placenta insulin-like peptide (ELIP; gene INSL4), ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      5334930..5340916 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423706.1XP_047279662.1  prorelaxin H1 isoform X2

    2. XM_047423703.1XP_047279659.1  prorelaxin H1 isoform X1

    3. XM_047423705.1XP_047279661.1  prorelaxin H1 isoform X2

    4. XM_047423704.1XP_047279660.1  prorelaxin H1 isoform X2

      Related
      ENST00000487557.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      5340023..5345993 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363495.1XP_054219470.1  prorelaxin H1 isoform X2

    2. XM_054363492.1XP_054219467.1  prorelaxin H1 isoform X1

    3. XM_054363494.1XP_054219469.1  prorelaxin H1 isoform X2

    4. XM_054363493.1XP_054219468.1  prorelaxin H1 isoform X2