TOP3B (DNA topoisomerase III beta)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8940
Gene name DNA topoisomerase III beta
Gene symbol TOP3B
Synonyms (NCBI Gene)
TOP3B1
Chromosome 22
Chromosome location 22q11.22
Summary 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
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
miRTarBase ID miRNA Experiments Reference
MIRT1447331 hsa-miR-1184 CLIP-seq
MIRT1447332 hsa-miR-183 CLIP-seq
MIRT1447333 hsa-miR-346 CLIP-seq
MIRT1447334 hsa-miR-4288 CLIP-seq
MIRT1447335 hsa-miR-4418 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000793 Component Condensed chromosome IEA
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding TAS
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003916 Function DNA topoisomerase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603582 11993 ENSG00000100038
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95985
Protein name DNA topoisomerase 3-beta-1 (EC 5.6.2.1) (DNA topoisomerase III beta-1)
Protein 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 targ
PDB 5GVC , 5GVE , 9C9W , 9C9Y , 9CA0 , 9CA1 , 9CA4 , 9CAG , 9CAH , 9CAJ , 9CAK , 9CAL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01751 Toprim 4 → 155 Toprim domain Family
PF01131 Topoisom_bac 169 → 583 DNA topoisomerase Family
Tissue specificity 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:0000269|PubMed:9927731}.
Sequence 
MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGH
VMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVEGRGCDYIVLWLDCDK
EGENICFEVLDAVLPVMNKAHGGEKTVFRARFSSITDTDICNAMACLGEPDHNEALSVDA
RQELDLRIGCAFTRFQTKYFQGKYGDLDSSLISFGPCQTPTLGFCVERHDKIQSFKPETY
WVLQAKVNTDKDRSLLLDWDRVRVFDREIAQMFLNMTKLEKEAQVEATSRKEKAKQRPLA
LNTVEMLRVASSSLGMGPQHAMQTAERLYTQGYISYPRTETTHYPENFDLKGSLRQQANH
PYWADTVKRLLAEGINRPRKGHDAGDHPPITPMKSATEAELGGDAWRLYEYITRHFIATV
SHDCKYLQSTISFRIGPELFTCSGKTVLSPGFTEVMPWQSVPLEESLPTCQRGDAFPVGE
VKMLEKQTNPPDYLTEAELITLMEKHGIGTDASIPVHINNICQRNYVTVESGRRLKPTNL
GIVLVHGYYKIDAELVLPTIRSAVEKQLNLIAQGKADYRQVLGHTLDVFKRKFHYFVDSI
AGMDELMEVSFSPLAATGKPLSRCGKCHRFMKYIQAKPSRLHCSHCDETYTLPQNGTIKL
YKELRCPLDDFELVLWSSGSRGKSYPLCPYCYNHPPFRDMKKGMGCNECTHPSCQHSLSM
LGIGQCVECESGVLVLDPTSGPKWKVACNKCNVVAHCFENAHRVRVSADTCSVCEAALLD
VDFNKAKSPLPGDETQHMGCVFCDPVFQELVELKHAASCHPMHRGGPGRRQGRGRGRARR
PPGKPNPRRPKDKMSALAAYFV
Sequence length 862
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Homologous recombination
Fanconi anemia pathway 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TOP3B-related disorder Uncertain significance; Likely benign; Benign rs762052661, rs1227425196, rs114760416, rs115645260, rs139565922, rs75602167, rs9610728, rs146766833, rs2517656923, rs145530716, rs114332012, rs201634829, rs115039918, rs116048331, rs34867208
View all (9 more)		 RCV003406025
RCV003394311
RCV003939261
RCV003909268
RCV003979633
RCV003984710
RCV003973988
RCV003964468
RCV003964219
RCV003931479
RCV003934405
RCV003932156
RCV003934089
RCV003934172
RCV003956751
RCV003969702
RCV003976286
RCV003933309
RCV003928452
RCV003926230
RCV003950652
RCV003958392
RCV003903320
RCV003928416
TOP3B-related neurodevelopmental condition Uncertain significance rs887274171 RCV005864704
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 27880953
Carcinoma Ovarian Epithelial Associate 27315793
Cleft Palate Associate 31204702
Cognition Disorders Associate 23912948, 27880953, 31204702
Congenital Abnormalities Associate 27880953
Developmental Disabilities Associate 23912948
DiGeorge Syndrome Associate 31204702
Facial Dysmorphism with Multiple Malformations Associate 27880953
Fragile X Syndrome Associate 23912948, 27880953
Heart Defects Congenital Associate 25376777