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Q9Y5K1

- SPO11_HUMAN

UniProt

Q9Y5K1 - SPO11_HUMAN

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Protein

Meiotic recombination protein SPO11

Gene

SPO11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

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. DNA catabolic process, endonucleolytic Source: InterPro
  2. female gamete generation Source: ProtInc
  3. male meiosis I Source: Ensembl
  4. ovarian follicle development Source: Ensembl
  5. protein localization to chromosome Source: Ensembl
  6. reciprocal meiotic recombination Source: ProtInc
  7. spermatid development Source: Ensembl
  8. spermatogenesis Source: ProtInc
  9. synapsis Source: Ensembl
Complete GO annotation...

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-KW
Complete GO annotation...

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

BgeeiQ9Y5K1.
CleanExiHS_SPO11.
ExpressionAtlasiQ9Y5K1. baseline.
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.
GeneTreeiENSGT00390000001787.
HOGENOMiHOG000225930.
HOVERGENiHBG058605.
InParanoidiQ9Y5K1.
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

        10         20         30         40         50
MAFAPMGPEA SFFDVLDRHR ESLLAALRRG GREPPTGGSR LASSSEVLAS
60 70 80 90 100
IENIIQDIIT SLARNEAPAF TIDNRSSWEN IKFEDSVGLQ MVSHCTTRKI
110 120 130 140 150
KSDSPKSAQK FSLILKILSM IYKLVQSNTY ATKRDIYYTD SQLFGNQTVV
160 170 180 190 200
DNIINDISCM LKVSRRSLHI LSTSKGLIAG NLRYIEEDGT KVNCTCGATA
210 220 230 240 250
VAVPSNIQGI RNLVTDAKFV LIVEKDATFQ RLLDDNFCNK LSPCIMITGK
260 270 280 290 300
GVPDLNTRLL VKKLWDTFHV PVFTLVDADP HGIEIMCIYK YGSMSMSFEA
310 320 330 340 350
HHLTVPAIRW LGLLPSDLKR LNVPKDSLIP LTKRDQMKLD SILRRPYVTC
360 370 380 390
QPFWRKEMEI MADSKMKAEI QALTFLSSDY LSRVYLPNKL KFGGWI
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.
GeneTreei ENSGT00390000001787.
HOGENOMi HOG000225930.
HOVERGENi HBG058605.
InParanoidi Q9Y5K1.
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

Bgeei Q9Y5K1.
CleanExi HS_SPO11.
ExpressionAtlasi Q9Y5K1. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 125 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