SPO11_HUMAN
ID SPO11_HUMAN Reviewed; 396 AA.
AC Q9Y5K1; Q5TCI1; Q8N4V0; Q9NQM7; Q9NQM8;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Meiotic recombination protein SPO11;
DE EC=5.6.2.2 {ECO:0000305};
DE AltName: Full=Cancer/testis antigen 35;
DE Short=CT35;
GN Name=SPO11;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=10622720; DOI=10.1016/s0014-5793(99)01546-x;
RA Shannon M., Richardson L., Christian A., Handel M.A., Thelen M.P.;
RT "Differential gene expression of mammalian SPO11/TOP6A homologs during
RT meiosis.";
RL FEBS Lett. 462:329-334(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=10534401; DOI=10.1006/geno.1999.5955;
RA Romanienko P.J., Camerini-Otero R.D.;
RT "Cloning, characterization, and localization of mouse and human SPO11.";
RL Genomics 61:156-169(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ALA-36.
RG NIEHS SNPs program;
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Component of a topoisomerase 6 complex specifically required
CC for meiotic recombination. Together with TOP6BL, mediates DNA cleavage
CC that forms the double-strand breaks (DSB) that initiate meiotic
CC recombination. The complex promotes relaxation of negative and positive
CC supercoiled DNA and DNA decatenation through cleavage and ligation
CC cycles. Essential for the phosphorylation of SMC3, HORMAD1 and HORMAD2.
CC {ECO:0000250|UniProtKB:Q9WTK8}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=ATP-dependent breakage, passage and rejoining of double-
CC stranded DNA.; EC=5.6.2.2; Evidence={ECO:0000305};
CC -!- COFACTOR:
CC Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
CC Evidence={ECO:0000250|UniProtKB:Q57815};
CC -!- SUBUNIT: Heterotetramer of SPO11 and 2 TOP6BL chains. Interacts with
CC TOP6BL. {ECO:0000250|UniProtKB:Q9WTK8}.
CC -!- INTERACTION:
CC Q9Y5K1-2; P15884-3: TCF4; NbExp=3; IntAct=EBI-12354035, EBI-13636688;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y5K1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y5K1-2; Sequence=VSP_006533;
CC -!- TISSUE SPECIFICITY: Highly expressed in testis.
CC -!- SIMILARITY: Belongs to the TOP6A family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/spo11/";
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DR EMBL; AF149310; AAD44812.1; -; mRNA.
DR EMBL; AF169385; AAD52562.1; -; mRNA.
DR EMBL; AY957583; AAX44047.1; -; Genomic_DNA.
DR EMBL; AL135939; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC033591; AAH33591.1; -; mRNA.
DR CCDS; CCDS13456.1; -. [Q9Y5K1-1]
DR CCDS; CCDS13457.1; -. [Q9Y5K1-2]
DR RefSeq; NP_036576.1; NM_012444.2. [Q9Y5K1-1]
DR RefSeq; NP_937998.1; NM_198265.1. [Q9Y5K1-2]
DR AlphaFoldDB; Q9Y5K1; -.
DR SMR; Q9Y5K1; -.
DR BioGRID; 117158; 8.
DR IntAct; Q9Y5K1; 1.
DR STRING; 9606.ENSP00000360310; -.
DR iPTMnet; Q9Y5K1; -.
DR PhosphoSitePlus; Q9Y5K1; -.
DR BioMuta; SPO11; -.
DR DMDM; 7674367; -.
DR MassIVE; Q9Y5K1; -.
DR PaxDb; Q9Y5K1; -.
DR PeptideAtlas; Q9Y5K1; -.
DR PRIDE; Q9Y5K1; -.
DR ProteomicsDB; 86424; -. [Q9Y5K1-1]
DR ProteomicsDB; 86425; -. [Q9Y5K1-2]
DR Antibodypedia; 28951; 201 antibodies from 28 providers.
DR DNASU; 23626; -.
DR Ensembl; ENST00000345868.8; ENSP00000316034.4; ENSG00000054796.13. [Q9Y5K1-2]
DR Ensembl; ENST00000371263.8; ENSP00000360310.3; ENSG00000054796.13. [Q9Y5K1-1]
DR GeneID; 23626; -.
DR KEGG; hsa:23626; -.
DR MANE-Select; ENST00000371263.8; ENSP00000360310.3; NM_012444.3; NP_036576.1.
DR UCSC; uc002xye.4; human. [Q9Y5K1-1]
DR CTD; 23626; -.
DR DisGeNET; 23626; -.
DR GeneCards; SPO11; -.
DR HGNC; HGNC:11250; SPO11.
DR HPA; ENSG00000054796; Tissue enriched (testis).
DR MIM; 605114; gene.
DR neXtProt; NX_Q9Y5K1; -.
DR OpenTargets; ENSG00000054796; -.
DR PharmGKB; PA36080; -.
DR VEuPathDB; HostDB:ENSG00000054796; -.
DR eggNOG; KOG2795; Eukaryota.
DR GeneTree; ENSGT00390000001787; -.
DR InParanoid; Q9Y5K1; -.
DR OMA; NWGEARF; -.
DR OrthoDB; 1272299at2759; -.
DR PhylomeDB; Q9Y5K1; -.
DR TreeFam; TF314157; -.
DR PathwayCommons; Q9Y5K1; -.
DR Reactome; R-HSA-912446; Meiotic recombination.
DR SignaLink; Q9Y5K1; -.
DR BioGRID-ORCS; 23626; 9 hits in 1070 CRISPR screens.
DR GenomeRNAi; 23626; -.
DR Pharos; Q9Y5K1; Tbio.
DR PRO; PR:Q9Y5K1; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9Y5K1; protein.
DR Bgee; ENSG00000054796; Expressed in right testis and 21 other tissues.
DR ExpressionAtlas; Q9Y5K1; baseline and differential.
DR Genevisible; Q9Y5K1; HS.
DR GO; GO:0000781; C:chromosome, telomeric region; IEA:Ensembl.
DR GO; GO:0000228; C:nuclear chromosome; IBA:GO_Central.
DR GO; GO:0005524; F:ATP binding; IEA:InterPro.
DR GO; GO:0003677; F:DNA binding; IBA:GO_Central.
DR GO; GO:0003918; F:DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity; IEA:UniProtKB-EC.
DR GO; GO:0016787; F:hydrolase activity; IEA:UniProtKB-KW.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:1990918; P:double-strand break repair involved in meiotic recombination; IEA:Ensembl.
DR GO; GO:0007292; P:female gamete generation; TAS:ProtInc.
DR GO; GO:0007141; P:male meiosis I; IEA:Ensembl.
DR GO; GO:0042138; P:meiotic DNA double-strand break formation; IBA:GO_Central.
DR GO; GO:0000706; P:meiotic DNA double-strand break processing; IBA:GO_Central.
DR GO; GO:0045141; P:meiotic telomere clustering; IEA:Ensembl.
DR GO; GO:0048477; P:oogenesis; IEA:Ensembl.
DR GO; GO:0001541; P:ovarian follicle development; IEA:Ensembl.
DR GO; GO:0034502; P:protein localization to chromosome; IEA:Ensembl.
DR GO; GO:0007131; P:reciprocal meiotic recombination; IBA:GO_Central.
DR GO; GO:0007286; P:spermatid development; IEA:Ensembl.
DR GO; GO:0007283; P:spermatogenesis; TAS:ProtInc.
DR GO; GO:0007130; P:synaptonemal complex assembly; IEA:Ensembl.
DR CDD; cd00223; TOPRIM_TopoIIB_SPO; 1.
DR Gene3D; 1.10.10.10; -; 1.
DR InterPro; IPR004084; Meiosis_Spo11.
DR InterPro; IPR013048; Meiotic_Spo11.
DR InterPro; IPR002815; Spo11/TopoVI_A.
DR InterPro; IPR013049; Spo11/TopoVI_A_N.
DR InterPro; IPR036078; Spo11/TopoVI_A_sf.
DR InterPro; IPR034136; TOPRIM_Topo6A/Spo11.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR PANTHER; PTHR10848; PTHR10848; 1.
DR Pfam; PF03533; SPO11_like; 1.
DR Pfam; PF04406; TP6A_N; 1.
DR PRINTS; PR01551; SPO11HOMOLOG.
DR PRINTS; PR01550; TOP6AFAMILY.
DR SUPFAM; SSF56726; SSF56726; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Hydrolase; Isomerase; Magnesium;
KW Meiosis; Metal-binding; Nucleus; Reference proteome.
FT CHAIN 1..396
FT /note="Meiotic recombination protein SPO11"
FT /id="PRO_0000145474"
FT ACT_SITE 138
FT /note="Nucleophile"
FT /evidence="ECO:0000250|UniProtKB:Q9M4A2"
FT BINDING 224
FT /ligand="Mg(2+)"
FT /ligand_id="ChEBI:CHEBI:18420"
FT /evidence="ECO:0000250|UniProtKB:Q57815"
FT BINDING 277
FT /ligand="Mg(2+)"
FT /ligand_id="ChEBI:CHEBI:18420"
FT /evidence="ECO:0000250|UniProtKB:Q57815"
FT VAR_SEQ 44..82
FT /note="SSEVLASIENIIQDIITSLARNEAPAFTIDNRSSWENIK -> R (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_006533"
FT VARIANT 36
FT /note="T -> A (in dbSNP:rs28368062)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_023307"
FT VARIANT 91
FT /note="M -> V (in dbSNP:rs3736832)"
FT /id="VAR_052596"
FT VARIANT 202
FT /note="A -> V (in dbSNP:rs17406460)"
FT /id="VAR_052597"
FT VARIANT 211
FT /note="R -> W (in dbSNP:rs28368082)"
FT /id="VAR_029246"
SQ SEQUENCE 396 AA; 44537 MW; 117A93D1E7BEBEC8 CRC64;
MAFAPMGPEA SFFDVLDRHR ESLLAALRRG GREPPTGGSR LASSSEVLAS IENIIQDIIT
SLARNEAPAF TIDNRSSWEN IKFEDSVGLQ MVSHCTTRKI KSDSPKSAQK FSLILKILSM
IYKLVQSNTY ATKRDIYYTD SQLFGNQTVV DNIINDISCM LKVSRRSLHI LSTSKGLIAG
NLRYIEEDGT KVNCTCGATA VAVPSNIQGI RNLVTDAKFV LIVEKDATFQ RLLDDNFCNK
LSPCIMITGK GVPDLNTRLL VKKLWDTFHV PVFTLVDADP HGIEIMCIYK YGSMSMSFEA
HHLTVPAIRW LGLLPSDLKR LNVPKDSLIP LTKRDQMKLD SILRRPYVTC QPFWRKEMEI
MADSKMKAEI QALTFLSSDY LSRVYLPNKL KFGGWI
