SPO11 SPO11 initiator of meiotic double strand breaks [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPO11provided by HGNC
Official Full Name: SPO11 initiator of meiotic double strand breaksprovided by HGNC
Primary source: HGNC:HGNC:11250
See related: Ensembl:ENSG00000054796 MIM:605114; AllianceGenome:HGNC:11250
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CT35; TOPVIA; SPATA43; TOPOVIA
Summary: 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]
Expression: Restricted expression toward testis (RPKM 4.0) See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.31

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (57329803..57343993)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (59107550..59121740)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (55904859..55919049)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Centromeres are dismantled by foundational meiotic proteins Spo11 and Rec8.
Title: Centromeres are dismantled by foundational meiotic proteins Spo11 and Rec8.
SPO11 gene C631T polymorphism may contribute as a genetic factor susceptible to cause male infertility in Chinese.
Title: The SPO11-C631T gene polymorphism and male infertility risk: a meta-analysis.
Data suggest that the combined genotypes of glutathionine S-transferase GSTM1 (-/-), GSTT1 (+/+), GSTP1 (AA) and meiotic recombination protein SPO11 (CT) may be associated with idiopathic male infertility in ethnic Han Chinese.
Title: [Association of SPO11 and GST gene polymorphisms with idiopathic male infertility in ethnic Han Chinese].
Polymorphisms within the SPO11 gene are linked to the susceptibility of azoospermia and oligozoospermia male infertility.
Title: Study of single nucleotide polymorphism (rs28368082) in SPO11 gene and its association with male infertility.
SPO11 might has an effect on premorbid functioning, which increase susceptibility for idiopathic male reproduction
Title: An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Data show that there is no association between SPO11 gene mutation and premature ovarian failure.
Title: Genetic investigation of four meiotic genes in women with premature ovarian failure.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.
Mutations in the human SPO11 gene are not common causes of infertility in man
Title: Screening the SPO11 and EIF5A2 genes in a population of infertile men.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA negative supercoiling activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in double-strand break repair involved in meiotic recombination	IEA Inferred from Electronic Annotation more info
involved_in female gamete generation	TAS Traceable Author Statement more info	PubMed
involved_in male meiosis I	IEA Inferred from Electronic Annotation more info
involved_in meiotic DNA double-strand break formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in meiotic DNA double-strand break processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in meiotic telomere clustering	IEA Inferred from Electronic Annotation more info
involved_in oogenesis	IEA Inferred from Electronic Annotation more info
involved_in ovarian follicle development	IEA Inferred from Electronic Annotation more info
involved_in protein localization to chromosome	IEA Inferred from Electronic Annotation more info
involved_in reciprocal meiotic recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatid development	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	TAS Traceable Author Statement more info	PubMed
involved_in synaptonemal complex assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	IEA Inferred from Electronic Annotation more info
is_active_in nuclear chromosome	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: meiotic recombination protein SPO11

Names: SPO11 initiator of meiotic double stranded breaks; SPO11 meiotic protein covalently bound to DSB homolog; cancer/testis antigen 35; spermatogenesis associated 43

NP_036576.1

EC 5.6.2.2

NP_937998.1

EC 5.6.2.2

XP_005260436.1

EC 5.6.2.2

XP_005260437.1

EC 5.6.2.2

XP_005260438.1

EC 5.6.2.2

XP_005260439.1

EC 5.6.2.2

XP_011527058.1

EC 5.6.2.2

XP_011527059.1

EC 5.6.2.2

XP_054179275.1

EC 5.6.2.2

XP_054179276.1

EC 5.6.2.2

XP_054179277.1

EC 5.6.2.2

XP_054179278.1

EC 5.6.2.2

XP_054179279.1

EC 5.6.2.2

XP_054179280.1

EC 5.6.2.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_012444.3 → NP_036576.1 meiotic recombination protein SPO11 isoform a

See identical proteins and their annotated locations for NP_036576.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AF149310, AF169385, BC033591

Consensus CDS

CCDS13456.1

UniProtKB/Swiss-Prot

Q5TCI1, Q8N4V0, Q9NQM7, Q9NQM8, Q9Y5K1

UniProtKB/TrEMBL

Q5TCH7

Related

ENSP00000360310.3, ENST00000371263.8

Conserved Domains (4) summary

cd00223
Location:218 → 380

TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...

COG1697
Location:43 → 391

Spo11; DNA topoisomerase VI, subunit A [Replication, recombination and repair]

pfam03533
Location:2 → 44

SPO11_like; SPO11 homologue

pfam04406
Location:107 → 170

TP6A_N; Type IIB DNA topoisomerase
NM_198265.2 → NP_937998.1 meiotic recombination protein SPO11 isoform b

See identical proteins and their annotated locations for NP_937998.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) lacks an internal segment compared to isoform a.

Source sequence(s)

AF169385, BC033591

Consensus CDS

CCDS13457.1

UniProtKB/TrEMBL

Q5TCH7

Related

ENSP00000316034.4, ENST00000345868.8

Conserved Domains (2) summary

pfam03533
Location:2 → 43

SPO11_like; SPO11 homolog

cl27161
Location:66 → 353

TP6A_N; Type IIB DNA topoisomerase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

57329803..57343993

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005260379.4 → XP_005260436.1 meiotic recombination protein SPO11 isoform X1

UniProtKB/TrEMBL

Q5TCH7

Conserved Domains (4) summary

cd00223
Location:218 → 391

TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...

COG1697
Location:43 → 402

Spo11; DNA topoisomerase VI, subunit A [Replication, recombination and repair]

pfam03533
Location:2 → 44

SPO11_like; SPO11 homologue

pfam04406
Location:107 → 170

TP6A_N; Type IIB DNA topoisomerase
XM_005260380.4 → XP_005260437.1 meiotic recombination protein SPO11 isoform X2

UniProtKB/TrEMBL

Q5TCH7

Conserved Domains (4) summary

cd00223
Location:216 → 389

TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...

PRK04342
Location:42 → 405

PRK04342; DNA topoisomerase VI subunit A; Provisional

pfam03533
Location:2 → 44

SPO11_like; SPO11 homologue

pfam04406
Location:107 → 170

TP6A_N; Type IIB DNA topoisomerase
XM_005260381.4 → XP_005260438.1 meiotic recombination protein SPO11 isoform X3

UniProtKB/TrEMBL

Q5TCH7

Conserved Domains (4) summary

cd00223
Location:216 → 378

TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...

COG1697
Location:43 → 389

Spo11; DNA topoisomerase VI, subunit A [Replication, recombination and repair]

pfam03533
Location:2 → 44

SPO11_like; SPO11 homologue

pfam04406
Location:107 → 170

TP6A_N; Type IIB DNA topoisomerase
XM_011528756.3 → XP_011527058.1 meiotic recombination protein SPO11 isoform X4

UniProtKB/TrEMBL

Q5TCH7

Conserved Domains (3) summary

cd00223
Location:180 → 353

TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...

pfam03533
Location:2 → 43

SPO11_like; SPO11 homologue

pfam04406
Location:69 → 132

TP6A_N; Type IIB DNA topoisomerase
XM_005260382.5 → XP_005260439.1 meiotic recombination protein SPO11 isoform X6

UniProtKB/TrEMBL

Q5TCH6

Related

ENSP00000413185.1, ENST00000418127.5

Conserved Domains (3) summary

cd00223
Location:218 → 305

TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...

pfam03533
Location:2 → 44

SPO11_like; SPO11 homologue

pfam04406
Location:107 → 170

TP6A_N; Type IIB DNA topoisomerase
XM_011528757.3 → XP_011527059.1 meiotic recombination protein SPO11 isoform X5

UniProtKB/TrEMBL

Q5TCH7

Conserved Domains (2) summary

cd00223
Location:128 → 301

TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...

pfam04406
Location:17 → 80

TP6A_N; Type IIB DNA topoisomerase