Human Gene TOP3A (ENST00000321105.10_8) from GENCODE V47lift37
  Description: DNA topoisomerase III alpha, transcript variant 1 (from RefSeq NM_004618.5)
Gencode Transcript: ENST00000321105.10_8
Gencode Gene: ENSG00000177302.16_13
Transcript (Including UTRs)
   Position: hg19 chr17:18,174,742-18,218,308 Size: 43,567 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr17:18,178,116-18,218,092 Size: 39,977 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:18,174,742-18,218,308)mRNA (may differ from genome)Protein (1001 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TOP3A_HUMAN
DESCRIPTION: RecName: Full=DNA topoisomerase 3-alpha; EC=5.99.1.2; AltName: Full=DNA topoisomerase III alpha;
FUNCTION: Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand than undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells.
CATALYTIC ACTIVITY: ATP-independent breakage of single-stranded DNA, followed by passage and rejoining.
SUBUNIT: Directly interacts with BLM and RMI1. Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM.
TISSUE SPECIFICITY: High expression is found in testis, heart, skeletal muscle and pancreas.
SIMILARITY: Belongs to the type IA topoisomerase family.
SIMILARITY: Contains 1 Toprim domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TOP3A
Diseases sorted by gene-association score: occupational dermatitis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.20 RPKM in Testis
Total median expression: 225.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -97.10216-0.450 Picture PostScript Text
3' UTR -1388.203374-0.411 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000380 - Topo_IA
IPR003601 - Topo_IA_2
IPR023406 - Topo_IA_AS
IPR013497 - Topo_IA_cen
IPR013824 - Topo_IA_cen_sub1
IPR013826 - Topo_IA_cen_sub3
IPR023405 - Topo_IA_core_domain
IPR003602 - Topo_IA_DNA-bd
IPR013498 - Topo_IA_Znf
IPR006171 - Toprim_domain
IPR001878 - Znf_CCHC
IPR010666 - Znf_GRF

Pfam Domains:
PF01131 - DNA topoisomerase
PF01396 - Topoisomerase DNA binding C4 zinc finger
PF01751 - Toprim domain
PF06839 - GRF zinc finger

SCOP Domains:
56712 - Prokaryotic type I DNA topoisomerase
57756 - Retrovirus zinc finger-like domains
57783 - Zinc beta-ribbon

ModBase Predicted Comparative 3D Structure on Q13472
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003916 DNA topoisomerase activity
GO:0003917 DNA topoisomerase type I activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016853 isomerase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006260 DNA replication
GO:0006265 DNA topological change
GO:0051321 meiotic cell cycle

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0016605 PML body


-  Descriptions from all associated GenBank mRNAs
  DQ597686 - Homo sapiens piRNA piR-35752, complete sequence.
DQ578786 - Homo sapiens piRNA piR-46898, complete sequence.
DQ593881 - Homo sapiens piRNA piR-33993, complete sequence.
DQ590993 - Homo sapiens piRNA piR-58105, complete sequence.
JD264194 - Sequence 245218 from Patent EP1572962.
JD420243 - Sequence 401267 from Patent EP1572962.
JD105356 - Sequence 86380 from Patent EP1572962.
JD383843 - Sequence 364867 from Patent EP1572962.
JD420242 - Sequence 401266 from Patent EP1572962.
JD319323 - Sequence 300347 from Patent EP1572962.
DQ588945 - Homo sapiens piRNA piR-56057, complete sequence.
AF086042 - Homo sapiens full length insert cDNA clone YX60A04.
BC051748 - Homo sapiens topoisomerase (DNA) III alpha, mRNA (cDNA clone MGC:51761 IMAGE:6044661), complete cds.
AK126869 - Homo sapiens cDNA FLJ44921 fis, clone BRAMY3011581, highly similar to DNA topoisomerase 3-alpha (EC 5.99.1.2).
JD522247 - Sequence 503271 from Patent EP1572962.
JD556293 - Sequence 537317 from Patent EP1572962.
JD319171 - Sequence 300195 from Patent EP1572962.
JD319172 - Sequence 300196 from Patent EP1572962.
JD556292 - Sequence 537316 from Patent EP1572962.
JD211162 - Sequence 192186 from Patent EP1572962.
JD217612 - Sequence 198636 from Patent EP1572962.
U43431 - Human DNA topoisomerase III mRNA, complete cds.
AK290513 - Homo sapiens cDNA FLJ77764 complete cds.
JD521420 - Sequence 502444 from Patent EP1572962.
JD534002 - Sequence 515026 from Patent EP1572962.
AK292926 - Homo sapiens cDNA FLJ77247 complete cds, highly similar to Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.
JD226763 - Sequence 207787 from Patent EP1572962.
JD121133 - Sequence 102157 from Patent EP1572962.
JD134657 - Sequence 115681 from Patent EP1572962.
JD206237 - Sequence 187261 from Patent EP1572962.
JD325761 - Sequence 306785 from Patent EP1572962.
JD049799 - Sequence 30823 from Patent EP1572962.
JD429393 - Sequence 410417 from Patent EP1572962.
AK299764 - Homo sapiens cDNA FLJ56242 complete cds, highly similar to DNA topoisomerase 3-alpha (EC 5.99.1.2).
AK296437 - Homo sapiens cDNA FLJ60620 complete cds, highly similar to DNA topoisomerase 3-alpha (EC 5.99.1.2).
JD226577 - Sequence 207601 from Patent EP1572962.
JD307442 - Sequence 288466 from Patent EP1572962.
JD521276 - Sequence 502300 from Patent EP1572962.
AK311668 - Homo sapiens cDNA, FLJ18710.
JD217410 - Sequence 198434 from Patent EP1572962.
JD222349 - Sequence 203373 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13472 (Reactome details) participates in the following event(s):

R-HSA-5686398 SPIDR binds BLM:TOP3A:RMI1:RMI2
R-HSA-5685985 EXO1 or DNA2 in complex with BLM or WRN binds initially resected DNA DSBs along with BRIP1 recruitment
R-HSA-5686410 BLM mediates dissolution of double Holliday junction
R-HSA-5686657 ERCC1:XPF cleaves flaps generated by SSA
R-HSA-5693589 D-loop dissociation and strand annealing
R-HSA-5693542 Association of RPA complexes with ssDNA at resected DNA DSBs
R-HSA-5685994 Long-range resection of DNA DSBs by EXO1 or DNA2
R-HSA-5684887 Activation of CHEK1 at resected DNA DSBs
R-HSA-5684882 CHEK1 is recruited to resected DNA DSBs
R-HSA-5693561 RAD51 binds BRCA2 at resected DNA DSBs
R-HSA-5693580 Association of RAD52 with the RPA complex at resected DNA DSBs
R-HSA-5685156 ATR phosphorylates RPA2
R-HSA-5685341 BCDX2 complex stabilizes RAD51 filament
R-HSA-5685838 CX3 complex binds D-loop structures
R-HSA-5693620 D-loop formation mediated by PALB2, BRCA2 and RAD51
R-HSA-5684875 Binding of ATR:ATRIP to RPA at resected DNA DSBs
R-HSA-5693564 Association of RAD51 with RAD52:DNA double-strand break ends
R-HSA-5693593 D-loop extension by DNA polymerases
R-HSA-5693584 Cleavage of Holliday junctions by GEN1 or SLX1A:SLX4:MUS81:EME1,(MUS81:EME2)
R-HSA-5686440 MUS81:EME1,EME2 cleaves D-loop
R-HSA-5685011 ATR activation at DNA DSBs
R-HSA-5686642 RAD52 promotes single strand annealing at resected DNA DSBs
R-HSA-6799332 ATR phosphorylates TP53
R-HSA-912446 Meiotic recombination
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-1500620 Meiosis
R-HSA-5693537 Resolution of D-Loop Structures
R-HSA-1474165 Reproduction
R-HSA-1640170 Cell Cycle
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-5685938 HDR through Single Strand Annealing (SSA)
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
R-HSA-5693538 Homology Directed Repair
R-HSA-5693532 DNA Double-Strand Break Repair
R-HSA-73894 DNA Repair
R-HSA-69473 G2/M DNA damage checkpoint
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-69481 G2/M Checkpoints
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A8KA61, B4DK80, D3DXC7, ENST00000321105.1, ENST00000321105.2, ENST00000321105.3, ENST00000321105.4, ENST00000321105.5, ENST00000321105.6, ENST00000321105.7, ENST00000321105.8, ENST00000321105.9, NM_004618, Q13472, Q13473, TOP3, TOP3A_HUMAN, uc317qzp.1, uc317qzp.2
UCSC ID: ENST00000321105.10_8
RefSeq Accession: NM_004618.5
Protein: Q13472 (aka TOP3A_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.