TOP3A
entrez
7156
canonical
uniprot
Q13472
canonical
ensembl
ENSG00000177302
resolver
ensembl
ENSG00000284238
resolver
ensp
ENSP00000321636
resolver
ensp
ENSP00000595039
resolver
ensp
ENSP00000733905
resolver
genesymbol
TOP3A
resolver
genesymbol_syn
TOP3
resolver
hgnc
HGNC:11992
resolver
uniprot
A8KA61
resolver
uniprot
B4DK80
resolver
uniprot
D3DXC7
resolver
uniprot
Q13473
resolver
uniprot_entry
TOP3A_HUMAN
resolver
uniprot_sec
A8KA61
resolver
uniprot_sec
B4DK80
resolver
uniprot_sec
D3DXC7
resolver
uniprot_sec
Q13473
resolver
amino_acid_sequence
MIFPVARYALRWLRRPEDRAFSRAAMEMALRGVRKVLCVAEKNDAAKGIADLLSNGRMRRREGLSKFNKIYEFDYHLYGQNVTMVMTSVSGHLLAHDFQMQFRKWQSCNPLVLFEAEIEKYCPENFVDIKKTLERETRQCQALVIWTDCDREGENIGFEIIHVCKAVKPNLQVLRARFSEITPHAVRTACENLTEPDQRVSDAVDVRQELDLRIGAAFTRFQTLRLQRIFPEVLAEQLISYGSCQFPTLGFVVERFKAIQAFVPEIFHRIKVTHDHKDGIVEFNWKRHRLFNHTACLVLYQLCVEDPMATVVEVRSKPKSKWRPQALDTVELEKLASRKLRINAKETMRIAEKLYTQGYISYPRTETNIFPRDLNLTVLVEQQTPDPRWGAFAQSILERGGPTPRNGNKSDQAHPPIHPTKYTNNLQGDEQRLYEFIVRHFLACCSQDAQGQETTVEIDIAQERFVAHGLMILARNYLDVYPYDHWSDKILPVYEQGSHFQPSTVEMVDGETSPPKLLTEADLIALMEKHGIGTDATHAEHIETIKARMYVGLTPDKRFLPGHLGMGLVEGYDSMGYEMSKPDLRAELEADLKLICDGKKDKFVVLRQQVQKYKQVFIEAVAKAKKLDEALAQYFGNGTELAQQEDIYPAMPEPIRKCPQCNKDMVLKTKKNGGFYLSCMGFPECRSAVWLPDSVLEASRDSSVCPVCQPHPVYRLKLKFKRGSLPPTMPLEFVCCIGGCDDTLREILDLRFSGGPPRASQPSGRLQANQSLNRMDNSQHPQPADSRQTGSSKALAQTLPPPTAAGESNSVTCNCGQEAVLLTVRKEGPNRGRQFFKCNGGSCNFFLWADSPNPGAGGPPALAYRPLGASLGCPPGPGIHLGGFGNPGDGSGSGTSCLCSQPSVTRTVQKDGPNKGRQFHTCAKPREQQCGFFQWVDENTAPGTSGAPSWTGDRGRTLESEARSKRPRASSSDMGSTAKKPRKCSLCHQPGHTRPFCPQNR
uniprot
proteins
disease_involvement
DISEASE: Microcephaly, growth restriction, and increased sister chromatid exchange 2 (MGRISCE2) [MIM:618097]: An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. {ECO:0000269|PubMed:30057030}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 (PEOB5) [MIM:618098]: A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB5 features include slowly progressive ptosis, intermittent double vision, cardiac arrhythmias, exercise intolerance, proximal limb and neck muscle weakness, and cerebellar ataxia. Patients skeletal muscle biopsy show numerous COX-deficient ragged-red fibers, increased mtDNA deletions, and extensive variable mtDNA rearrangements. {ECO:0000269|PubMed:29290614}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.6.2.1
uniprot
proteins
function
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 then 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. As an essential component of the RMI complex it is involved in chromosome separation and the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Has DNA decatenation activity (PubMed:30057030). It is required for mtDNA decatenation and segregation after completion of replication, in a process that does not require BLM, RMI1 and RMI2 (PubMed:29290614). {ECO:0000269|PubMed:20445207, ECO:0000269|PubMed:29290614, ECO:0000269|PubMed:30057030, ECO:0000269|PubMed:8622991}.
uniprot
proteins
mass_dalton
112372
uniprot
proteins
mutagenesis
MUTAGEN 362; /note="Y->F: Decreased DNA decatenation."; /evidence="ECO:0000269|PubMed:29290614
uniprot
proteins
protein_family
Type IA topoisomerase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15775963
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18923082
uniprot
proteins
pubmed
18923083
uniprot
proteins
pubmed
20445207
uniprot
proteins
pubmed
20843780
uniprot
proteins
pubmed
23509288
uniprot
proteins
pubmed
29290614
uniprot
proteins
pubmed
30057030
uniprot
proteins
pubmed
8622991
uniprot
proteins
sequence_length
1001
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:29290614}.
uniprot
proteins