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FLASH GENE
Symbol INSL6 contributors: mct/ - updated : 11-10-2017
HGNC name insulin-like 6
HGNC id 6089
Location 9p24.1      Physical location : 5.163.864 - 5.185.618
Synonym name relaxin/insulin-like factor 1
Synonym symbol(s) RIF1
DNA
TYPE functioning gene
STRUCTURE 21.75 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
regionally located located near INSL4 and TDFA
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 711 250 213 - 2000 10819760
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis  specific
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivegerm cell
Reproductivesperm cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal domain conserved in all eukaryotes and predicted to consist of 14–21 tandem HEAT-like (Huntingtin, Elongation factor 3, A subunit of protein phosphatase 2A, and Tor1) repeats
  • protein matching the classical signature of the insulin superfamily with B and A chain regions
  • a signal peptide, a B chain, a connecting C chain, and an A chain
  • a DNA-binding domain that resembles the alphaCTD domain of bacterial RNA polymerase alpha, and is required to resist replication stress
  • C-terminal domain with a DNA-binding domain and interacts with the BLM complex
  • HOMOLOGY
    interspecies homolog to murine Insl6
    homolog to C.elegans T08G5.3
    ortholog to rattus rat INSL6
    Homologene
    FAMILY
  • insulin family
  • insulin/IGF/relaxin family
  • CATEGORY signaling hormone
    SUBCELLULAR LOCALIZATION extracellular
    text
  • meiotic and postmeiotic germ cells of the testis are the principal sites of expression of INSL6
  • basic FUNCTION
  • having a role in sperm development and fertilization
  • required for the progression of spermatogenesis
  • confers a new DNA interface for the BLM complex to maintain normal replication
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS reproduction/sex
    PATHWAY
    metabolism
    signaling
    a component
  • integral component of the BLM complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • physically interacts with the BLM complex through a conserved C-terminal domain, and the stability of Rif1 depends on the presence of the BLM complex
  • INSL6 is a novel CUL4B substrate in male germ cells, evidenced by its direct polyubiquination and degradation by CUL4B E3 ligase
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    majority of the Insl6-deficient males on a hybrid genetic background exhibited impaired fertility, whereas females were fertile