Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SPO11 Gene

Aliases for SPO11 Gene

  • SPO11, Initiator Of Meiotic Double Stranded Breaks 2 3 5
  • Cancer/Testis Antigen 35 2 3 4
  • Spermatogenesis Associated 43 2 3
  • CT35 3 4
  • SPO11 Meiotic Protein Covalently Bound To DSB Homolog (S. Cerevisiae) 2
  • SPO11, Meiotic Protein Covalently Bound To DSB (S. Cerevisiae)-Like 2
  • SPO11 Meiotic Protein Covalently Bound To DSB-Like (S. Cerevisiae) 2
  • SPO11 Meiotic Protein Covalently Bound To DSB Homolog 3
  • SPO11 Meiotic Protein Covalently Bound To DSB 2
  • Meiotic Recombination Protein SPO11 3
  • EC 5.99.1.3 4
  • SPATA43 3
  • TOPVIA 3

External Ids for SPO11 Gene

Previous GeneCards Identifiers for SPO11 Gene

  • GC20P055633
  • GC20P056543
  • GC20P056590
  • GC20P055338
  • GC20P055905
  • GC20P052686

Summaries for SPO11 Gene

Entrez Gene Summary for SPO11 Gene

  • 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]

GeneCards Summary for SPO11 Gene

SPO11 (SPO11, Initiator Of Meiotic Double Stranded Breaks) is a Protein Coding gene. Among its related pathways are Meiosis and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include hydrolase activity.

UniProtKB/Swiss-Prot for SPO11 Gene

  • Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with TOP6BL, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles. Essential for the phosphorylation of SMC3, HORMAD1 and HORMAD2.

Additional gene information for SPO11 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPO11 Gene

Genomics for SPO11 Gene

GeneHancer (GH) Regulatory Elements for SPO11 Gene

Promoters and enhancers for SPO11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I057329 Promoter 1 EPDnew 550.8 +0.0 29 0.1 MEIS2 KLF1 ATF1 E2F1 CTBP1 E2F8 EGR1 VEZF1 ATF7 ZNF639 SPO11 RPL39P39 LOC105372687
GH20I057330 Enhancer 0.7 ENCODE 550.8 +0.3 261 0.2 CTCF KLF1 ATF1 E2F1 CTBP1 E2F8 EGR1 VEZF1 ZNF143 ATF7 SPO11 RPL39P39 BMP7 LOC105372687
GH20I057305 Enhancer 1 FANTOM5 ENCODE 12 -23.9 -23915 0.2 SIX4 PKNOX1 ESRRA NFIB ZNF449 SIN3A BMI1 ZBTB7B MTA3 CTBP1 RPL39P39 SPO11 BMP7 GC20P057313 PIR49257 GC20M057284 LOC105372687
GH20I057503 Enhancer 0.8 Ensembl ENCODE 9.9 +173.7 173707 0.9 JUNB BATF IRF4 GABPA BCL11A POLR2A IKZF1 ETV6 KDM1A IKZF2 MTND1P9 MTRNR2L3 LOC100291105 RBM38 RAE1 CTCFL PCK1 ZBP1 RPL39P39 SPO11
GH20I057108 Enhancer 0.7 ENCODE 10.5 -220.4 -220389 1.4 RNF2 HLF ZBTB11 CEBPB CEBPG REST DMAP1 GABPA MBD1 CEBPA RPL39P39 SPO11 ENSG00000231078 ENSG00000203266
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPO11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPO11 gene promoter:

Genomic Locations for SPO11 Gene

Genomic Locations for SPO11 Gene
chr20:57,329,759-57,343,994
(GRCh38/hg38)
Size:
14,236 bases
Orientation:
Plus strand
chr20:55,904,815-55,919,050
(GRCh37/hg19)

Genomic View for SPO11 Gene

Genes around SPO11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPO11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPO11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPO11 Gene

Proteins for SPO11 Gene

  • Protein details for SPO11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5K1-SPO11_HUMAN
    Recommended name:
    Meiotic recombination protein SPO11
    Protein Accession:
    Q9Y5K1
    Secondary Accessions:
    • Q5TCI1
    • Q8N4V0
    • Q9NQM7
    • Q9NQM8

    Protein attributes for SPO11 Gene

    Size:
    396 amino acids
    Molecular mass:
    44537 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Heterotetramer of SPO11 and 2 TOP6BL chains. Interacts with TOP6BL.

    Alternative splice isoforms for SPO11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPO11 Gene

Post-translational modifications for SPO11 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SPO11 Gene

Domains & Families for SPO11 Gene

Gene Families for SPO11 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SPO11 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5K1

UniProtKB/Swiss-Prot:

SPO11_HUMAN :
  • Belongs to the TOP6A family.
Family:
  • Belongs to the TOP6A family.
genes like me logo Genes that share domains with SPO11: view

Function for SPO11 Gene

Molecular function for SPO11 Gene

GENATLAS Biochemistry:
Yeast meiosis specific gene homolog,required for double strand break formation required for initiation of recombination in S cerevisiae,expressed in prostate,testis,? and other tissues with an alternatively spliced isoform.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP-dependent breakage, passage and rejoining of double-stranded DNA.
UniProtKB/Swiss-Prot Function:
Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with TOP6BL, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles. Essential for the phosphorylation of SMC3, HORMAD1 and HORMAD2.

Enzyme Numbers (IUBMB) for SPO11 Gene

Phenotypes From GWAS Catalog for SPO11 Gene

Gene Ontology (GO) - Molecular Function for SPO11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IBA,IEA --
GO:0003824 catalytic activity IEA --
GO:0003918 DNA topoisomerase type II (ATP-hydrolyzing) activity IBA --
GO:0005515 protein binding IPI 26917763
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with SPO11: view
genes like me logo Genes that share phenotypes with SPO11: view

Animal Models for SPO11 Gene

MGI Knock Outs for SPO11:

miRNA for SPO11 Gene

miRTarBase miRNAs that target SPO11

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPO11 Gene

Localization for SPO11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPO11 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPO11 gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SPO11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IBA --
GO:0000781 chromosome, telomeric region IEA --
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with SPO11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPO11 Gene

Pathways & Interactions for SPO11 Gene

SuperPathways for SPO11 Gene

SuperPathway Contained pathways
1 Meiosis
.73
2 Cell Cycle, Mitotic
genes like me logo Genes that share pathways with SPO11: view

Pathways by source for SPO11 Gene

3 Reactome pathways for SPO11 Gene

Gene Ontology (GO) - Biological Process for SPO11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000706 meiotic DNA double-strand break processing IBA --
GO:0000737 DNA catabolic process, endonucleolytic IEA --
GO:0001541 ovarian follicle development IEA --
GO:0006259 DNA metabolic process IEA --
GO:0007129 synapsis IEA --
genes like me logo Genes that share ontologies with SPO11: view

No data available for SIGNOR curated interactions for SPO11 Gene

Drugs & Compounds for SPO11 Gene

No Compound Related Data Available

Transcripts for SPO11 Gene

mRNA/cDNA for SPO11 Gene

Unigene Clusters for SPO11 Gene

SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPO11 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - -
SP2: - - -
SP3: - -
SP4: - -

Relevant External Links for SPO11 Gene

GeneLoc Exon Structure for
SPO11
ECgene alternative splicing isoforms for
SPO11

Expression for SPO11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPO11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPO11 Gene

This gene is overexpressed in Testis (x53.0).

Protein differential expression in normal tissues from HIPED for SPO11 Gene

This gene is overexpressed in Plasma (48.5) and Cerebrospinal fluid (20.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPO11 Gene



Protein tissue co-expression partners for SPO11 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPO11 Gene:

SPO11

SOURCE GeneReport for Unigene cluster for SPO11 Gene:

Hs.159737

mRNA Expression by UniProt/SwissProt for SPO11 Gene:

Q9Y5K1-SPO11_HUMAN
Tissue specificity: Highly expressed in testis.

Evidence on tissue expression from TISSUES for SPO11 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with SPO11: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SPO11 Gene

Orthologs for SPO11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPO11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPO11 34 33
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SPO11 34 33
  • 90.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPO11 33 34
  • 89.45 (n)
oppossum
(Monodelphis domestica)
Mammalia SPO11 34
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spo11 16 34 33
  • 81.9 (n)
rat
(Rattus norvegicus)
Mammalia Spo11 33
  • 81.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPO11 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPO11 33
  • 75.45 (n)
zebrafish
(Danio rerio)
Actinopterygii spo11 34 33
  • 59.98 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mei-W68 35 33 34
  • 46.08 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010898 33
  • 46.03 (n)
worm
(Caenorhabditis elegans)
Secernentea spo-11 35 34
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPO11 36
thale cress
(Arabidopsis thaliana)
eudicotyledons RHL2 33
  • 48.38 (n)
rice
(Oryza sativa)
Liliopsida Os03g0284800 33
  • 44.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToOne
Species where no ortholog for SPO11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SPO11 Gene

ENSEMBL:
Gene Tree for SPO11 (if available)
TreeFam:
Gene Tree for SPO11 (if available)

Paralogs for SPO11 Gene

No data available for Paralogs for SPO11 Gene

Variants for SPO11 Gene

Sequence variations from dbSNP and Humsavar for SPO11 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000010226 -- 57,337,785(+) A/G intron_variant
rs1000148419 -- 57,343,889(+) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000177783 -- 57,331,285(+) C/T intron_variant
rs1000232361 -- 57,330,008(+) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000372374 -- 57,336,673(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SPO11 Gene

Variant ID Type Subtype PubMed ID
nsv1055983 CNV gain 25217958
nsv459027 CNV loss 19166990
nsv586311 CNV loss 21841781
nsv955139 CNV duplication 24416366

Variation tolerance for SPO11 Gene

Residual Variation Intolerance Score: 62.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPO11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPO11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPO11 Gene

Disorders for SPO11 Gene

Additional Disease Information for SPO11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SPO11 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPO11 Gene

Publications for SPO11 Gene

  1. Cloning, characterization, and localization of mouse and human SPO11. (PMID: 10534401) Romanienko PJ … Camerini-Otero RD (Genomics 1999) 2 3 4 58
  2. Differential gene expression of mammalian SPO11/TOP6A homologs during meiosis. (PMID: 10622720) Shannon M … Thelen MP (FEBS letters 1999) 3 4 22 58
  3. A new light on the meiotic DSB catalytic complex. (PMID: 26995551) Robert T … Grelon M (Seminars in cell & developmental biology 2016) 2 3 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. (PMID: 20378615) Aston KI … Carrell DT (Human reproduction (Oxford, England) 2010) 3 44 58

Products for SPO11 Gene

Sources for SPO11 Gene

Content
Loading form....