TOP6BL
entrez
79703
canonical
uniprot
Q8N6T0
canonical
ensembl
ENSG00000173715
resolver
ensp
ENSP00000432039
resolver
ensp
ENSP00000444319
resolver
genesymbol
TOP6BL
resolver
genesymbol_syn
C11orf80
resolver
hgnc
HGNC:26197
resolver
uniprot
B4DXL1
resolver
uniprot
Q9H677
resolver
uniprot_entry
TO6BL_HUMAN
resolver
uniprot_sec
B4DXL1
resolver
uniprot_sec
Q9H677
resolver
amino_acid_sequence
MVLKKFLKEIQSILPGISAKLTWTSEEGSYSQDMTGVTPFQMIFEVDEKPRTLMTDCLVIKHFLRKIIMVHPKVRFHFSVKVNGILSTEIFGVENEPTLNLGNGIALLVDSQHYVSRPNFGTIESHCSRIHPVLGHPVMLFIPEDVAGMDLLGELILTPAAALCPSPKVSSNQLNRISSVSIFLYGPLGLPLILSTWEQPMTTFFKDTSSLVDWKKYHLCMIPNLDLNLDRDLVLPDVSYQVESSEEDQSQTMDPQGQTLLLFLFVDFHSAFPVQQMEIWGVYTLLTTHLNAILVESHSVVQGSIQFTVDKVLEQHHQAAKAQQKLQASLSVAVNSIMSILTGSTRSSFRKMCLQTLQAADTQEFRTKLHKVFREITQHQFLHHCSCEVKQLTLEKKDSAQGTEDAPDNSSLELLADTSGQAENKRLKRGSPRIEEMRALRSARAPSPSEAAPRRPEATAAPLTPRGREHREAHGRALAPGRASLGSRLEDVLWLQEVSNLSEWLSPSPGP
uniprot
proteins
disease_involvement
DISEASE: Hydatidiform mole, recurrent, 4 (HYDM4) [MIM:618432]: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. {ECO:0000269|PubMed:30388401}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Note=Spermatogenic failure (PubMed:36732965, PubMed:41211863). An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia (PubMed:36732965, PubMed:41211863). Defects are caused by defects in programmed meiotic DNA double-strand break formation and meiotic arrest prior to pachytene stage of prophase I (PubMed:36732965, PubMed:41211863). The disease is caused by variants affecting the gene represented in this entry (PubMed:36732965, PubMed:41211863). {ECO:0000269|PubMed:36732965, ECO:0000269|PubMed:41211863}.
uniprot
proteins
function
FUNCTION: Non-catalytic component of a topoisomerase 6 complex specifically required for double-strand breaks (DSB) formation that initiate meiotic recombination (PubMed:36732965, PubMed:41211863). Together with SPO11, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination (By similarity). The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles (By similarity). Within the complex, TOP6BL may sense specific DNA architectures, such as bendable and underwound DNA for cleavage by SPO11 (By similarity). {ECO:0000250|UniProtKB:J3QMY9, ECO:0000269|PubMed:36732965, ECO:0000269|PubMed:41211863}.
uniprot
proteins
mass_dalton
57042
uniprot
proteins
protein_family
TOP6B-like family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
18160775
uniprot
proteins
pubmed
19880432
uniprot
proteins
pubmed
26917764
uniprot
proteins
pubmed
30388401
uniprot
proteins
pubmed
36732965
uniprot
proteins
pubmed
41211863
uniprot
proteins
sequence_length
511
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:J3QMY9}. Nucleus {ECO:0000250|UniProtKB:J3QMY9}. Note=Localizes to meiotic chromosomes together with SPO11. {ECO:0000250|UniProtKB:J3QMY9}.
uniprot
proteins