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FLASH GENE
Symbol INSL3 contributors: mct/npt - updated : 12-07-2018
HGNC name insulin-like 3 (Leydig cell)
HGNC id 6086
Location 19p13.11      Physical location : 17.927.321 - 17.932.320
Synonym name
  • relaxin-like factor
  • Leydig insulin-like peptide
  • relaxin-like factor
  • leydig insulin -like hormone
    • Synonym symbol(s) LEY1L, RLF, INL3, MGC119818, MGC119819, RLNL, Ley-I-L
    DNA
    TYPE functioning gene
    STRUCTURE 5.07 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 810 14.5 131 - Anand-Ivell (2008)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovary   
     male systemtestis   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveLeydig cell
    Reproductivelutein cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text leydig cells, trophoblast, membrane, only detectable in amniotic fluid from male fetuses, and highest levels occurred from weeks 15-17 of gestation
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a B-chain, a connecting C-peptide
  • an A-chain
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Insl3
    Homologene
    FAMILY
  • insulin-like superfamily
  • relaxin family
    • CATEGORY signaling hormone
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • regulating the growth and differentiation of the gubernaculum, thereby mediating intraabdominal testicular descent
  • has an important function in mediating male and female germ cell function
  • acts by binding to its specific G protein-coupled receptor RXFP2 (relaxin family peptide 2) and is involved in testicular descent during fetal development
  • may be having a role in bone metabolism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS reproduction/sex
    PATHWAY
    metabolism
    signaling hormonal
    a component
  • heterodimer of a B and A chain linked by 2 disulfide bonds
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ligand of RXFP2 (activating the RXFP2 receptor important in testis descent)
  • interaction with RXFP2 (INSL3/RXFP2 primary binding site, including interactions between RXFP2 His-B12 and LGR8 Trp-177, INSL3 Val-B19 and RXFP2 Ile-179, and INSL3 Arg-B20 with RXFP2 Asp-181 and Glu-229) (Scott 2007)
  • EEF1AKNMT facilitates the INSL3 production in testicular Leydig cells that is essential for transabdominal testis migration
  • cooperation between the orphan nuclear receptors NR2F2 and NR5A1 in the regulation of INSL3 gene expression in Leydig cells
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to testicular maldescent (not major cause)
    Variant & Polymorphism other
    Candidate gene concentration in human amniotic fluid is potentially predictive of fetal sex and pre-eclampsia, and presumably reflects the functioning of the fetal Leydig cell population
    Marker
    Therapy target
    ANIMAL & CELL MODELS