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FLASH GENE
Symbol SOHLH1 contributors: mct - updated : 24-03-2021
HGNC name spermatogenesis and oogenesis specific basic helix-loop-helix
HGNC id 27845
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY transcription factor
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm
intracellular,nucleus,chromatin/chromosome
text
  • (NOBOX) and LIM homeobox protein 8 (LHX8), two important regulators of postnatal oogenesis, were coexpressed with SOHLH1
    • basic FUNCTION
  • SOHLH1 and LHX8 are two germ cell-specific, critical regulators of oogenesis
  • SOHLH2 might coordinate with SOHLH1 to control spermatogonial and oocyte genes, including SOHLH1, to promote the differentiation of KIT(+) germ cells
  • first testis-specific basic helix-loop-helix transcription factor essential for spermatogonial differentiation (
  • SOHLH1 and SOHLH2, encode basic helix-loop-helix (bHLH) transcriptional regulators that are essential in spermatogonial differentiation
  • SOHLH1 and SOHLH2 suppress genes involved in spermatogonial stem cells (SSCs) maintenance, and induce genes important for spermatogonial differentiation
  • FIGLA, LHX8, NOBOX, SOHLH1, and SOHLH2 transcriptional regulators are critical for formation and maintenance of follicles
  • SOHLH1 and SOHLH2 are essential regulators of oocyte differentiation but do not affect meiosis I
  • plays a key role in the transcriptional regulation of the expression of differentiating spermatogonial genes
  • likely SOHLH1 transcriptionally regulates the expression of many target genes critical for the meiotic phase of spermatogenesis
  • major role for FIGLA, LHX8 and SOHLH1 as multifunctional regulators of networks necessary for oocyte maintenance and differentiation during early folliculogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component SOHLH2 and SOHLH1 can form a heterodimer
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SOHLH1 and SOHLH2 directly down-regulate STRA8
  • STRA8, indirectly, is able to exert a negative control on the SOHLH1-dependent stimulation of KIT expression in late differentiating spermatogonia and preleptotene spermatocytes
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ODG5 , SPGF32
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    causes infertility by disrupting spermatogonial differentiation into spermatocytes
    Susceptibility to nonobstructive azoospermia (NOA)
    Variant & Polymorphism other
  • a splice-acceptor site mutation that probably causes a nonfunctional SOHLH1 protein results in nonobstructive azoospermia by the lack of normal spermatogenesis (
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Sohlh1 knockout (KO) male mice displayed meiotic defects at the zygotene stage during spermatogenesis