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    SPO11 SPO11, initiator of meiotic double stranded breaks [ Homo sapiens (human) ]

    Gene ID: 23626, updated on 25-May-2017
    Official Symbol
    SPO11provided by HGNC
    Official Full Name
    SPO11, initiator of meiotic double stranded breaksprovided by HGNC
    Primary source
    HGNC:HGNC:11250
    See related
    Ensembl:ENSG00000054796 MIM:605114; Vega:OTTHUMG00000032817
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT35; TOPVIA; SPATA43
    Summary
    Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    20q13.31
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (57329757..57343993)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (55904831..55919049)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372687 Neighboring gene microRNA 4325 Neighboring gene ribosomal protein L39 pseudogene 39 Neighboring gene nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 5-1 Neighboring gene ribonucleic acid export 1 Neighboring gene MT-RNR2-like 3 Neighboring gene mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 9

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • Meiotic recombination, organism-specific biosystem (from REACTOME)
      Meiotic recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...

    Markers

    Homology

    Clone Names

    • MGC39953

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA topoisomerase type II (ATP-hydrolyzing) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    endodeoxyribonuclease activity, producing 3'-phosphomonoesters IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA catabolic process, endonucleolytic IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair involved in meiotic recombination IEA
    Inferred from Electronic Annotation
    more info
     
    female gamete generation TAS
    Traceable Author Statement
    more info
    PubMed 
    male meiosis I IEA
    Inferred from Electronic Annotation
    more info
     
    meiotic DNA double-strand break formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    meiotic DNA double-strand break processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    meiotic telomere clustering IEA
    Inferred from Electronic Annotation
    more info
     
    oogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    synaptonemal complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    chromosome, telomeric region IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    meiotic recombination protein SPO11
    Names
    SPO11 meiotic protein covalently bound to DSB homolog
    cancer/testis antigen 35
    spermatogenesis associated 43
    NP_036576.1
    NP_937998.1
    XP_005260436.1
    XP_005260437.1
    XP_005260438.1
    XP_005260439.1
    XP_011527058.1
    XP_011527059.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_012444.2NP_036576.1  meiotic recombination protein SPO11 isoform a

      See identical proteins and their annotated locations for NP_036576.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AF149310, AF169385, BC033591
      Consensus CDS
      CCDS13456.1
      UniProtKB/Swiss-Prot
      Q9Y5K1
      Related
      ENSP00000360310.3, OTTHUMP00000031360, ENST00000371263.7, OTTHUMT00000079836
      Conserved Domains (4) summary
      cd00223
      Location:218380
      TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
      COG1697
      Location:43391
      Spo11; DNA topoisomerase VI, subunit A [Replication, recombination and repair]
      pfam03533
      Location:244
      SPO11_like; SPO11 homologue
      pfam04406
      Location:107170
      TP6A_N; Type IIB DNA topoisomerase
    2. NM_198265.1NP_937998.1  meiotic recombination protein SPO11 isoform b

      See identical proteins and their annotated locations for NP_937998.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) lacks an internal segment compared to isoform a.
      Source sequence(s)
      AF169385, BC033591
      Consensus CDS
      CCDS13457.1
      UniProtKB/Swiss-Prot
      Q9Y5K1
      Related
      ENSP00000316034.4, OTTHUMP00000031361, ENST00000345868.8, OTTHUMT00000079837
      Conserved Domains (3) summary
      cd00223
      Location:180342
      TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
      pfam03533
      Location:243
      SPO11_like; SPO11 homologue
      pfam04406
      Location:69132
      TP6A_N; Type IIB DNA topoisomerase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      57329757..57343993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260380.3XP_005260437.1  meiotic recombination protein SPO11 isoform X2

      Conserved Domains (4) summary
      cd00223
      Location:216389
      TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
      PRK04342
      Location:42405
      PRK04342; DNA topoisomerase VI subunit A; Provisional
      pfam03533
      Location:244
      SPO11_like; SPO11 homologue
      pfam04406
      Location:107170
      TP6A_N; Type IIB DNA topoisomerase
    2. XM_011528756.2XP_011527058.1  meiotic recombination protein SPO11 isoform X4

      Conserved Domains (3) summary
      cd00223
      Location:180353
      TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
      pfam03533
      Location:243
      SPO11_like; SPO11 homologue
      pfam04406
      Location:69132
      TP6A_N; Type IIB DNA topoisomerase
    3. XM_005260379.3XP_005260436.1  meiotic recombination protein SPO11 isoform X1

      Conserved Domains (4) summary
      cd00223
      Location:218391
      TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
      COG1697
      Location:43402
      Spo11; DNA topoisomerase VI, subunit A [Replication, recombination and repair]
      pfam03533
      Location:244
      SPO11_like; SPO11 homologue
      pfam04406
      Location:107170
      TP6A_N; Type IIB DNA topoisomerase
    4. XM_005260381.3XP_005260438.1  meiotic recombination protein SPO11 isoform X3

      Conserved Domains (4) summary
      cd00223
      Location:216378
      TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
      COG1697
      Location:43389
      Spo11; DNA topoisomerase VI, subunit A [Replication, recombination and repair]
      pfam03533
      Location:244
      SPO11_like; SPO11 homologue
      pfam04406
      Location:107170
      TP6A_N; Type IIB DNA topoisomerase
    5. XM_005260382.4XP_005260439.1  meiotic recombination protein SPO11 isoform X6

      Related
      ENSP00000413185.1, OTTHUMP00000031363, ENST00000418127.5, OTTHUMT00000079839
      Conserved Domains (3) summary
      cd00223
      Location:218305
      TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
      pfam03533
      Location:244
      SPO11_like; SPO11 homologue
      pfam04406
      Location:107170
      TP6A_N; Type IIB DNA topoisomerase
    6. XM_011528757.2XP_011527059.1  meiotic recombination protein SPO11 isoform X5

      Conserved Domains (2) summary
      cd00223
      Location:128301
      TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
      pfam04406
      Location:1780
      TP6A_N; Type IIB DNA topoisomerase

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      55805942..55820160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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