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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
Corresponding disease
ODG5 ovarian dysgenesis 5
SPGF32 spermatogenic failure 32
Location 9q34.3      Physical location : 138.585.256 - 138.591.374
Genatlas name testis and ovary expressed basic helix-loop-helix (bHLH) transcription factor
Synonym symbol(s) TEB2, bHLHe80, C9orf157, NOHLH, ODG5, SPATA27, SPGF32, bA100C15.3
DNA
TYPE functioning gene
STRUCTURE 6.12 kb     8 Exon(s)
regulatory sequence Promoter
text structure
  • SOHLH2 and SOHLH1 synergistically upregulate the SOHLH1 gene through E-boxes upstream of the SOHLH1 promoter
    • MAPPING cloned Y linked N status
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1425 - 387 - 2010 20506135
    7 - 1997 - 328 - 2010 20506135
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovaryovarian follicle predominantly Homo sapiens
     male systemtestis  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveLeydig cell Homo sapiens
    Reproductiveoocyte Homo sapiens
    ReproductiveSertoli cell Homo sapiens
    Reproductivespermatogonia Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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