Q9Y5K1 (SPO11_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Meiotic recombination protein SPO11

Alternative name(s):
Cancer/testis antigen 35
Short name=CT35

Gene names

Name:

SPO11

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	396 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	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.
Subcellular location	Nucleus By similarity.
Tissue specificity	Highly expressed in testis.
Sequence similarities	Belongs to the TOP6A family.

Ontologies

Keywords
Biological process	Meiosis
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	female gamete generation Traceable author statement Ref.2. Source: ProtInc male meiosis I Inferred from electronic annotation. Source: Compara ovarian follicle development Inferred from electronic annotation. Source: Compara protein localization to chromosome Inferred from electronic annotation. Source: Compara reciprocal meiotic recombination Traceable author statement Ref.2. Source: ProtInc spermatid development Inferred from electronic annotation. Source: Compara spermatogenesis Traceable author statement Ref.2. Source: ProtInc zygotene Inferred from electronic annotation. Source: Compara
Cellular_component	chromosome, telomeric region Inferred from electronic annotation. Source: Compara nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	ATP binding Inferred from electronic annotation. Source: InterPro DNA binding Traceable author statement Ref.2. Source: ProtInc hydrolase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y5K1-1)

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.

Isoform 2 (identifier: Q9Y5K1-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 396	396	Meiotic recombination protein SPO11		PRO_0000145474
Sites
	Active site	138	1	Nucleophile By similarity
Natural variations
	Alternative sequence	44 – 82	39	SSEVL…WENIK → R in isoform 2.		VSP_006533
	Natural variant	36	1	T → A. Ref.3 Corresponds to variant rs28368062 [ dbSNP | Ensembl ].		VAR_023307
	Natural variant	91	1	M → V. Corresponds to variant rs3736832 [ dbSNP | Ensembl ].		VAR_052596
	Natural variant	202	1	A → V. Corresponds to variant rs17406460 [ dbSNP | Ensembl ].		VAR_052597
	Natural variant	211	1	R → W. Corresponds to variant rs28368082 [ dbSNP | Ensembl ].		VAR_029246

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 117A93D1E7BEBEC8	FASTA	396	44,537
	10 20 30 40 50 60 MAFAPMGPEA SFFDVLDRHR ESLLAALRRG GREPPTGGSR LASSSEVLAS IENIIQDIIT 70 80 90 100 110 120 SLARNEAPAF TIDNRSSWEN IKFEDSVGLQ MVSHCTTRKI KSDSPKSAQK FSLILKILSM 130 140 150 160 170 180 IYKLVQSNTY ATKRDIYYTD SQLFGNQTVV DNIINDISCM LKVSRRSLHI LSTSKGLIAG 190 200 210 220 230 240 NLRYIEEDGT KVNCTCGATA VAVPSNIQGI RNLVTDAKFV LIVEKDATFQ RLLDDNFCNK 250 260 270 280 290 300 LSPCIMITGK GVPDLNTRLL VKKLWDTFHV PVFTLVDADP HGIEIMCIYK YGSMSMSFEA 310 320 330 340 350 360 HHLTVPAIRW LGLLPSDLKR LNVPKDSLIP LTKRDQMKLD SILRRPYVTC QPFWRKEMEI 370 380 390 MADSKMKAEI QALTFLSSDY LSRVYLPNKL KFGGWI
	Isoform 2 [UniParc]. Checksum: 0277826777623625	FASTA	358	40,364
	10 20 30 40 50 60 MAFAPMGPEA SFFDVLDRHR ESLLAALRRG GREPPTGGSR LASRFEDSVG LQMVSHCTTR 70 80 90 100 110 120 KIKSDSPKSA QKFSLILKIL SMIYKLVQSN TYATKRDIYY TDSQLFGNQT VVDNIINDIS 130 140 150 160 170 180 CMLKVSRRSL HILSTSKGLI AGNLRYIEED GTKVNCTCGA TAVAVPSNIQ GIRNLVTDAK 190 200 210 220 230 240 FVLIVEKDAT FQRLLDDNFC NKLSPCIMIT GKGVPDLNTR LLVKKLWDTF HVPVFTLVDA 250 260 270 280 290 300 DPHGIEIMCI YKYGSMSMSF EAHHLTVPAI RWLGLLPSDL KRLNVPKDSL IPLTKRDQMK 310 320 330 340 350 LDSILRRPYV TCQPFWRKEM EIMADSKMKA EIQALTFLSS DYLSRVYLPN KLKFGGWI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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.
+	Additional computationally mapped references.

Web resources

NIEHS-SNPs

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00181896. IPI00843905.
RefSeq	NP_036576.1. NM_012444.2. NP_937998.1. NM_198265.1.
UniGene	Hs.159737.
3D structure databases
ProteinModelPortal	Q9Y5K1.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000360310.
PTM databases
PhosphoSite	Q9Y5K1.
Polymorphism databases
DMDM	7674367.
Proteomic databases
PaxDb	Q9Y5K1.
PRIDE	Q9Y5K1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000345868; ENSP00000316034; ENSG00000054796. ENST00000371263; ENSP00000360310; ENSG00000054796.
GeneID	23626.
KEGG	hsa:23626.
UCSC	uc002xye.3. human. uc002xyf.3. human.
Organism-specific databases
CTD	23626.
GeneCards	GC20P055905.
HGNC	HGNC:11250. SPO11.
MIM	605114. gene.
neXtProt	NX_Q9Y5K1.
PharmGKB	PA36080.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1697.
HOGENOM	HOG000225930.
HOVERGEN	HBG058605.
KO	K10878.
OMA	CTTRKIK.
OrthoDB	EOG44J2J4.
PhylomeDB	Q9Y5K1.
Enzyme and pathway databases
Reactome	REACT_111183. Meiosis.
Gene expression databases
ArrayExpress	Q9Y5K1.
Bgee	Q9Y5K1.
CleanEx	HS_SPO11.
Genevestigator	Q9Y5K1.
GermOnline	ENSG00000054796. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.10. 1 hit.
InterPro	IPR004084. Meiosis_Spo11. IPR013048. Meiotic_Spo11. IPR002815. Spo11/TopoVI_A. IPR013049. Spo11/TopoVI_A_N. IPR011991. WHTH_DNA-bd_dom. [Graphical view]
PANTHER	PTHR10848. PTHR10848. 1 hit.
Pfam	PF03533. SPO11_like. 1 hit. PF04406. TP6A_N. 1 hit. [Graphical view]
PRINTS	PR01551. SPO11HOMOLOG. PR01550. TOP6AFAMILY.
SUPFAM	SSF56726. Spo11/TopoVI_A. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	23626.
NextBio	46390.
SOURCE	Search...

Entry information

Entry name

SPO11_HUMAN

Accession

Primary (citable) accession number: Q9Y5K1
Secondary accession number(s): Q5TCI1 , Q8N4V0, Q9NQM7, Q9NQM8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	November 1, 1999
Last modified:	May 1, 2013
This is version 112 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.