• Gene id: 8940

Gene Summary

• Gene Symbol: TOP3B   Gene   UCSC   Ensembl
• Aliases: TOP3B1
• Gene name: DNA topoisomerase III beta
• Alternate names: DNA topoisomerase 3-beta-1, DNA topoisomerase III beta-1, topoisomerase (DNA) III beta, topoisomerase III beta,
• Gene location: 22q11.22 (21982786: 21957024)     Exons: 21     NC_000022.11
• Gene summary(Entrez): This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one a
• OMIM: 608188

Protein Summary

• Protein general information: O95985  
  • Name: DNA topoisomerase 3 beta 1 (EC 5.6.2.1) (DNA topoisomerase III beta 1)
  • Length: 862  
  • Mass: 96662
  • Tissue specificity: Isoform 1 is found in testis, heart and skeletal muscle. A 4 kb transcript which probably represents isoform 2 is found in thymus, kidney and pancreas. {ECO
• Sequence:

  MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGHVMTLDFLGKYNKWDK
  VDPAELFSQAPTEKKEANPKLNMVKFLQVEGRGCDYIVLWLDCDKEGENICFEVLDAVLPVMNKAHGGEKTVFRA
  RFSSITDTDICNAMACLGEPDHNEALSVDARQELDLRIGCAFTRFQTKYFQGKYGDLDSSLISFGPCQTPTLGFC
  VERHDKIQSFKPETYWVLQAKVNTDKDRSLLLDWDRVRVFDREIAQMFLNMTKLEKEAQVEATSRKEKAKQRPLA
  LNTVEMLRVASSSLGMGPQHAMQTAERLYTQGYISYPRTETTHYPENFDLKGSLRQQANHPYWADTVKRLLAEGI
  NRPRKGHDAGDHPPITPMKSATEAELGGDAWRLYEYITRHFIATVSHDCKYLQSTISFRIGPELFTCSGKTVLSP
  GFTEVMPWQSVPLEESLPTCQRGDAFPVGEVKMLEKQTNPPDYLTEAELITLMEKHGIGTDASIPVHINNICQRN
  YVTVESGRRLKPTNLGIVLVHGYYKIDAELVLPTIRSAVEKQLNLIAQGKADYRQVLGHTLDVFKRKFHYFVDSI
  AGMDELMEVSFSPLAATGKPLSRCGKCHRFMKYIQAKPSRLHCSHCDETYTLPQNGTIKLYKELRCPLDDFELVL
  WSSGSRGKSYPLCPYCYNHPPFRDMKKGMGCNECTHPSCQHSLSMLGIGQCVECESGVLVLDPTSGPKWKVACNK
  CNVVAHCFENAHRVRVSADTCSVCEAALLDVDFNKAKSPLPGDETQHMGCVFCDPVFQELVELKHAASCHPMHRG
  GPGRRQGRGRGRARRPPGKPNPRRPKDKMSALAAYFV

• Structural information:
  • Protein Domains: (3..15-)
    (/note="Toprim-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00995"-)
  • Interpro: IPR000380  IPR003601  IPR023406  IPR013497  IPR013824   IPR013825  IPR013826  IPR023405  IPR003602  IPR006171  IPR034144  
  • Prosite: PS00396 PS50880
  • CDD: cd00186 cd03362
  • PDB: 5GVC 5GVE
  • PDBsum: 5GVC 5GVE
  • STRING: ENSP00000381773
• Other Databases: GeneCards:  TOP3B  Malacards:  TOP3B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003916	DNA topoisomerase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006265	DNA topological change	IBA	biological process
GO:0003917	DNA topoisomerase type I (single strand cut, ATP-independent) activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003916	DNA topoisomerase activity	IEA	molecular function
GO:0006265	DNA topological change	IEA	biological process
GO:0003916	DNA topoisomerase activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003916	DNA topoisomerase activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0003917	DNA topoisomerase type I (single strand cut, ATP-independent) activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007059	chromosome segregation	IEA	biological process
GO:0000793	condensed chromosome	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R