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Q9Y5K1

- SPO11_HUMAN

UniProt

Q9Y5K1 - SPO11_HUMAN

Protein

Meiotic recombination protein SPO11

Gene

SPO11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    Functioni

    Required for meiotic recombination. Mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination By similarity. Essential for the phosphorylation of SMC3, HORMAD1 and HORMAD2 By similarity.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei138 – 1381NucleophileBy similarity

    GO - Molecular functioni

    1. ATP binding Source: InterPro
    2. DNA binding Source: ProtInc
    3. hydrolase activity Source: UniProtKB-KW

    GO - Biological processi

    1. female gamete generation Source: ProtInc
    2. male meiosis I Source: Ensembl
    3. ovarian follicle development Source: Ensembl
    4. protein localization to chromosome Source: Ensembl
    5. reciprocal meiotic recombination Source: ProtInc
    6. spermatid development Source: Ensembl
    7. spermatogenesis Source: ProtInc
    8. synapsis Source: Ensembl

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Meiosis

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_27271. Meiotic recombination.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Meiotic recombination protein SPO11
    Alternative name(s):
    Cancer/testis antigen 35
    Short name:
    CT35
    Gene namesi
    Name:SPO11
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:11250. SPO11.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. chromosome, telomeric region Source: Ensembl
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA36080.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 396396Meiotic recombination protein SPO11PRO_0000145474Add
    BLAST

    Proteomic databases

    PaxDbiQ9Y5K1.
    PRIDEiQ9Y5K1.

    PTM databases

    PhosphoSiteiQ9Y5K1.

    Expressioni

    Tissue specificityi

    Highly expressed in testis.

    Gene expression databases

    ArrayExpressiQ9Y5K1.
    BgeeiQ9Y5K1.
    CleanExiHS_SPO11.
    GenevestigatoriQ9Y5K1.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000360310.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y5K1.
    SMRiQ9Y5K1. Positions 108-390.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TOP6A family.Curated

    Phylogenomic databases

    eggNOGiCOG1697.
    HOGENOMiHOG000225930.
    HOVERGENiHBG058605.
    KOiK10878.
    OMAiCIMVTGK.
    OrthoDBiEOG72ZCF6.
    PhylomeDBiQ9Y5K1.
    TreeFamiTF314157.

    Family and domain databases

    Gene3Di1.10.10.10. 1 hit.
    InterProiIPR004084. Meiosis_Spo11.
    IPR013048. Meiotic_Spo11.
    IPR002815. Spo11/TopoVI_A.
    IPR013049. Spo11/TopoVI_A_N.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view]
    PANTHERiPTHR10848. PTHR10848. 1 hit.
    PfamiPF03533. SPO11_like. 1 hit.
    PF04406. TP6A_N. 1 hit.
    [Graphical view]
    PRINTSiPR01551. SPO11HOMOLOG.
    PR01550. TOP6AFAMILY.
    SUPFAMiSSF56726. SSF56726. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y5K1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAFAPMGPEA SFFDVLDRHR ESLLAALRRG GREPPTGGSR LASSSEVLAS    50
    IENIIQDIIT SLARNEAPAF TIDNRSSWEN IKFEDSVGLQ MVSHCTTRKI 100
    KSDSPKSAQK FSLILKILSM IYKLVQSNTY ATKRDIYYTD SQLFGNQTVV 150
    DNIINDISCM LKVSRRSLHI LSTSKGLIAG NLRYIEEDGT KVNCTCGATA 200
    VAVPSNIQGI RNLVTDAKFV LIVEKDATFQ RLLDDNFCNK LSPCIMITGK 250
    GVPDLNTRLL VKKLWDTFHV PVFTLVDADP HGIEIMCIYK YGSMSMSFEA 300
    HHLTVPAIRW LGLLPSDLKR LNVPKDSLIP LTKRDQMKLD SILRRPYVTC 350
    QPFWRKEMEI MADSKMKAEI QALTFLSSDY LSRVYLPNKL KFGGWI 396
    Length:396
    Mass (Da):44,537
    Last modified:November 1, 1999 - v1
    Checksum:i117A93D1E7BEBEC8
    GO
    Isoform 2 (identifier: Q9Y5K1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         44-82: SSEVLASIENIIQDIITSLARNEAPAFTIDNRSSWENIK → R

    Note: No experimental confirmation available.

    Show »
    Length:358
    Mass (Da):40,364
    Checksum:i0277826777623625
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361T → A.1 Publication
    Corresponds to variant rs28368062 [ dbSNP | Ensembl ].
    VAR_023307
    Natural varianti91 – 911M → V.
    Corresponds to variant rs3736832 [ dbSNP | Ensembl ].
    VAR_052596
    Natural varianti202 – 2021A → V.
    Corresponds to variant rs17406460 [ dbSNP | Ensembl ].
    VAR_052597
    Natural varianti211 – 2111R → W.
    Corresponds to variant rs28368082 [ dbSNP | Ensembl ].
    VAR_029246

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei44 – 8239SSEVL…WENIK → R in isoform 2. 1 PublicationVSP_006533Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF149310 mRNA. Translation: AAD44812.1.
    AF169385 mRNA. Translation: AAD52562.1.
    AY957583 Genomic DNA. Translation: AAX44047.1.
    AL135939 Genomic DNA. Translation: CAI21521.1.
    AL135939 Genomic DNA. Translation: CAI21522.1.
    BC033591 mRNA. Translation: AAH33591.1.
    CCDSiCCDS13456.1. [Q9Y5K1-1]
    CCDS13457.1. [Q9Y5K1-2]
    RefSeqiNP_036576.1. NM_012444.2. [Q9Y5K1-1]
    NP_937998.1. NM_198265.1. [Q9Y5K1-2]
    UniGeneiHs.159737.

    Genome annotation databases

    EnsembliENST00000345868; ENSP00000316034; ENSG00000054796. [Q9Y5K1-2]
    ENST00000371263; ENSP00000360310; ENSG00000054796. [Q9Y5K1-1]
    GeneIDi23626.
    KEGGihsa:23626.
    UCSCiuc002xye.3. human. [Q9Y5K1-1]
    uc002xyf.3. human. [Q9Y5K1-2]

    Polymorphism databases

    DMDMi7674367.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF149310 mRNA. Translation: AAD44812.1 .
    AF169385 mRNA. Translation: AAD52562.1 .
    AY957583 Genomic DNA. Translation: AAX44047.1 .
    AL135939 Genomic DNA. Translation: CAI21521.1 .
    AL135939 Genomic DNA. Translation: CAI21522.1 .
    BC033591 mRNA. Translation: AAH33591.1 .
    CCDSi CCDS13456.1. [Q9Y5K1-1 ]
    CCDS13457.1. [Q9Y5K1-2 ]
    RefSeqi NP_036576.1. NM_012444.2. [Q9Y5K1-1 ]
    NP_937998.1. NM_198265.1. [Q9Y5K1-2 ]
    UniGenei Hs.159737.

    3D structure databases

    ProteinModelPortali Q9Y5K1.
    SMRi Q9Y5K1. Positions 108-390.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000360310.

    PTM databases

    PhosphoSitei Q9Y5K1.

    Polymorphism databases

    DMDMi 7674367.

    Proteomic databases

    PaxDbi Q9Y5K1.
    PRIDEi Q9Y5K1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000345868 ; ENSP00000316034 ; ENSG00000054796 . [Q9Y5K1-2 ]
    ENST00000371263 ; ENSP00000360310 ; ENSG00000054796 . [Q9Y5K1-1 ]
    GeneIDi 23626.
    KEGGi hsa:23626.
    UCSCi uc002xye.3. human. [Q9Y5K1-1 ]
    uc002xyf.3. human. [Q9Y5K1-2 ]

    Organism-specific databases

    CTDi 23626.
    GeneCardsi GC20P055905.
    HGNCi HGNC:11250. SPO11.
    MIMi 605114. gene.
    neXtProti NX_Q9Y5K1.
    PharmGKBi PA36080.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1697.
    HOGENOMi HOG000225930.
    HOVERGENi HBG058605.
    KOi K10878.
    OMAi CIMVTGK.
    OrthoDBi EOG72ZCF6.
    PhylomeDBi Q9Y5K1.
    TreeFami TF314157.

    Enzyme and pathway databases

    Reactomei REACT_27271. Meiotic recombination.

    Miscellaneous databases

    GenomeRNAii 23626.
    NextBioi 46390.
    PROi Q9Y5K1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y5K1.
    Bgeei Q9Y5K1.
    CleanExi HS_SPO11.
    Genevestigatori Q9Y5K1.

    Family and domain databases

    Gene3Di 1.10.10.10. 1 hit.
    InterProi IPR004084. Meiosis_Spo11.
    IPR013048. Meiotic_Spo11.
    IPR002815. Spo11/TopoVI_A.
    IPR013049. Spo11/TopoVI_A_N.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    PANTHERi PTHR10848. PTHR10848. 1 hit.
    Pfami PF03533. SPO11_like. 1 hit.
    PF04406. TP6A_N. 1 hit.
    [Graphical view ]
    PRINTSi PR01551. SPO11HOMOLOG.
    PR01550. TOP6AFAMILY.
    SUPFAMi SSF56726. SSF56726. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Differential gene expression of mammalian SPO11/TOP6A homologs during meiosis."
      Shannon M., Richardson L., Christian A., Handel M.A., Thelen M.P.
      FEBS Lett. 462:329-334(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Testis.
    2. "Cloning, characterization, and localization of mouse and human SPO11."
      Romanienko P.J., Camerini-Otero R.D.
      Genomics 61:156-169(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Testis.
    3. NIEHS SNPs program
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-36.
    4. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.

    Entry informationi

    Entry nameiSPO11_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y5K1
    Secondary accession number(s): Q5TCI1
    , Q8N4V0, Q9NQM7, Q9NQM8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 124 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3