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    INSL3 insulin like 3 [ Homo sapiens (human) ]

    Gene ID: 3640, updated on 28-Nov-2023

    Summary

    Official Symbol
    INSL3provided by HGNC
    Official Full Name
    insulin like 3provided by HGNC
    Primary source
    HGNC:HGNC:6086
    See related
    Ensembl:ENSG00000248099 MIM:146738; AllianceGenome:HGNC:6086
    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
    RLF; RLNL; ley-I-L
    Summary
    This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
    Expression
    Restricted expression toward testis (RPKM 240.7) See more
    Orthologs
    NEW
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    Genomic context

    See INSL3 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17816512..17821519, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17950620..17955630, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17927321..17932328, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10359 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:17864444-17864964 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:17864965-17865484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14284 Neighboring gene MPRA-validated peak3395 silencer Neighboring gene FCH and mu domain containing endocytic adaptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17877027-17877564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17905145-17905842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17905843-17906540 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17941863-17942447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17942448-17943031 Neighboring gene Janus kinase 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17952872-17953108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17970267-17971002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17972474-17973210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17973211-17973945 Neighboring gene small nucleolar RNA, H/ACA box 68 Neighboring gene ribosomal protein L18a

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the expression of insulin-like 3 (INSL3) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC119818, MGC119819

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables insulin receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    insulin-like 3
    Names
    insulin-like 3 (Leydig cell)
    leydig insulin -like hormone
    leydig insulin-like peptide
    prepro-INSL3
    relaxin-like factor b

    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.

    Genomic

    1. NG_012092.1 RefSeqGene

      Range
      4993..10000
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001265587.2NP_001252516.1  insulin-like 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001252516.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC005952, AY082014, BC040435
      Consensus CDS
      CCDS58655.1
      UniProtKB/Swiss-Prot
      P51460
      Related
      ENSP00000369017.4, ENST00000379695.5
      Conserved Domains (1) summary
      cd04365
      Location:3252
      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), ...
    2. NM_005543.4NP_005534.2  insulin-like 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_005534.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. Isoform 2 is shorter, compared to isoform 1.
      Source sequence(s)
      AC005952, AY082014, BC040435, BC106722
      Consensus CDS
      CCDS12365.1
      UniProtKB/Swiss-Prot
      B4DZ72, G3XAG0, P51460, Q3KPI5, Q3KPI6, Q6YNB5, Q9UEA2, Q9UPH6
      Related
      ENSP00000321724.6, ENST00000317306.8
      Conserved Domains (1) summary
      cd04365
      Location:32129
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      17816512..17821519 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      17950620..17955630 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)