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FLASH GENE
Symbol SPO11 contributors: mct - updated : 03-02-2015
HGNC name SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)
HGNC id 11250
Location 20q13.31      Physical location : 55.904.830 - 55.919.048
Synonym symbol(s) CT35, TOPVIA, SPATA43
DNA
TYPE functioning gene
STRUCTURE 14.22 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
MC3R 20q13.2-q13.3 melanocortin 3 receptor C20orf108 20q13.2 chromosome 20 open reading frame 108 STK6 20q13.31 serine/threonine kinase 6 CSTF1 20q13.2-q13.3 cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa C20orf32 20q13.31 chromosome 20 open reading frame 32 RPL39P 20q13.2 ribosomal protein L39 pseudogene C20orf43 20q13.31 chromosome 20 open reading frame 43 C20orf106 20q13.2 chromosome 20 open reading frame 106 LOC388799 20 similar to dJ1153D9.4 (novel protein) RPS4L 20q13.2 ribosomal protein S4-like TFAP2C 20q13.2 transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) PTMAP6 20 prothymosin, alpha pseudogene 6 LOC388800 20 LOC388800 LOC339583 20q13.31 hypothetical LOC339583 BMP7 20q13.2 bone morphogenetic protein 7 (osteogenic protein 1) LOC284754 20q13.31 hypothetical gene supported by BC037891 SPO11 20q13.2-q13.3 SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae) RAE1 20q13.31 RAE1 RNA export 1 homolog (S. pombe) RNPC1 20q13.31 RNA-binding region (RNP1, RRM) containing 1 LOC149767 20q13.31 similar to dJ579F20.1 (high-mobility group (nonhistone chromosomal) protein 1-like 1) CTCFL 20q13.31 CCCTC-binding factor (zinc finger protein)-like PCK1 20q13.3 phosphoenolpyruvate carboxykinase 1 (soluble) ZBP1 17q21.3 Z-DNA binding protein 1 TMEPAI 20q13.31-q13.33 transmembrane, prostate androgen induced RNA C20orf85 20q13.32 chromosome 20 open reading frame 85 C20orf86 20q13.32 chromosome 20 open reading frame 86 PPP4R1L 20q13.32 protein phosphatase 4, regulatory subunit 1-like
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 1826 44 396 - 1999 10534401
isoform a
12 splicing 1712 - 358 - 1999 10534401
variant 2 lacks an alternate in-frame exon compared to variant 1, resulting in isoform b lacking an internal segment, compared to isoform a
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus    
Reproductivemale systemtestis  highly
 male systemprostate   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
cell lineage
cell lines carcinoma cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a putative active site tyrosine (region J)
  • a Toprim (topoisomerase and primase) domain
  • HOMOLOGY
    interspecies homolog to yeast meiosis specific gene
    ortholog to murine Spo11
    Homologene
    FAMILY TOP6A family
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome,telomere
    basic FUNCTION
  • DNA topoisomerase activity, required for double strand break formation
  • required for initiation of recombination in S.cerevisiae
  • meiotic recombination is initiated by programmed DNA double-strand break (DSB) formation mediated by SPO11
  • must be removed for the DNA double-strand breaks to be repaired
  • generates programmed DNA double-strand breaks (DSBs) that initiate meiotic recombination (pMID: 19799184)
  • SPO11-accessory proteins link double-strand break sites to the chromosome axis in early meiotic recombination
  • initial steps in repair of SPO11-induced DNA double-strand breaks (DSBs) are required to obtain stable homologous chromosome pairing and synapsis
  • SPO11-independent DNA repair foci contribute to the meiotic silencing of unsynapsed chromatin (MSUC) response in oocytes
  • DNA double-strand breaks (DSBs) are induced by SPO11 during meiosis to initiate recombination-mediated pairing and synapsis of homologous chromosomes
  • repair of SPO11-dependent DNA double-strand breaks (DSBs) via homologous recombination (HR) is essential for stable homologous chromosome pairing and synapsis during meiotic prophase
  • CELLULAR PROCESS nucleotide, recombination
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule nucleotide,
    ATP binding
    protein
  • POLB is critical for the repair of SPO11-induced double-strand breaks (DSBs)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to azoospermia and oligozoospermia male infertility
    Variant & Polymorphism SNP
  • polymorphism in SPO11 gene may be linked to the susceptibility of azoospermia and oligozoospermia male infertility
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    disruption of mouse Spo11 led to severe gonadal abnormalities from defective meiosis