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Protein

Type 2 DNA topoisomerase 6 subunit B-like

Gene

TOP6BL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Isoform 3: Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with SPO11, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Meiosis

Names & Taxonomyi

Protein namesi
Recommended name:
Type 2 DNA topoisomerase 6 subunit B-likeBy similarity
Alternative name(s):
Type 2 DNA topoisomerase VI subunit B-likeBy similarity
Short name:
TOPOVIBLBy similarity
Gene namesi
Name:TOP6BL1 Publication
Synonyms:C11orf80Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:26197. C11orf80.

Subcellular locationi

  • Chromosome By similarity

  • Note: Localizes to meiotic chromosomes.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Chromosome

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162377704.

Polymorphism and mutation databases

BioMutaiC11orf80.
DMDMi519668662.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 577577Type 2 DNA topoisomerase 6 subunit B-likePRO_0000296622Add
BLAST

Proteomic databases

EPDiQ8N6T0.
PaxDbiQ8N6T0.
PRIDEiQ8N6T0.

PTM databases

iPTMnetiQ8N6T0.

Expressioni

Tissue specificityi

Detected in lung, spleen,colon and in skeletal muscle.1 Publication

Gene expression databases

BgeeiQ8N6T0.
CleanExiHS_C11orf80.
ExpressionAtlasiQ8N6T0. baseline and differential.
GenevisibleiQ8N6T0. HS.

Organism-specific databases

HPAiHPA038932.
HPA038933.

Interactioni

Subunit structurei

Isoform 3: Heterotetramer of SPO11 and 2 TOP6BL chains. Isoform 3: Interacts with SPO11.By similarity

Family & Domainsi

Domaini

Isoform 3: Despite a weak sequence similarity, retains most of the structural features of the ancestral archaeal Top6B subunit (AC O05207), including the transducer domain that interacts with the SPO11 subunit and the ATP-binding fold, also named GHKL fold.By similarity

Sequence similaritiesi

Belongs to the TOP6B-like family.Curated

Phylogenomic databases

eggNOGiENOG410IGZ1. Eukaryota.
ENOG410YW9Q. LUCA.
GeneTreeiENSGT00390000009327.
HOGENOMiHOG000168638.
HOVERGENiHBG103677.
InParanoidiQ8N6T0.
OMAiGTIESHC.
OrthoDBiEOG7PS1FM.
PhylomeDBiQ8N6T0.
TreeFamiTF337039.

Family and domain databases

InterProiIPR028040. TopoVIB-like.
[Graphical view]
PANTHERiPTHR14652. PTHR14652. 1 hit.
PfamiPF15091. DUF4554. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 3 (identifier: Q8N6T0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEGTAVAVFE ILRFLIIHWK CDIDVSKGAL LEGQLVISIE GLNSKHQANA
60 70 80 90 100
LHCVTTVASA GSLFGGMVLK KFLKEIQSIL PGISAKLTWT SEEGSYSQDM
110 120 130 140 150
TGVTPFQMIF EVDEKPRTLM TDCLVIKHFL RKIIMVHPKV RFHFSVKVNG
160 170 180 190 200
ILSTEIFGVE NEPTLNLGNG IALLVDSQHY VRPNFGTIES HCSRIHPVLG
210 220 230 240 250
HPVMLFIPED VAGMDLLGEL ILTPAAALCP SPKVSSNQLN RISSVSIFLY
260 270 280 290 300
GPLGLPLILS TWEQPMTTFF KDTSSLVDWK KYHLCMIPNL DLNLDRDLVL
310 320 330 340 350
PDVSYQVESS EEDQSQTMDP QGQTLLLFLF VDFHSAFPVQ QMEIWGVYTL
360 370 380 390 400
LTTHLNAILV ESHSVVQGSI QFTVDKVLEQ HHQAAKAQQK LQASLSVAVN
410 420 430 440 450
SIMSILTGST RSSFRKMCLQ TLQAADTQEF RTKLHKVFRE ITQHQFLHHC
460 470 480 490 500
SCEVKQQLTL EKKDSAQGTE DAPDNSSLEL LADTSGQAEN KRLKRGSPRI
510 520 530 540 550
EEMRALRSAR APSPSEAAPR RPEATAAPLT PRGREHREAH GRALAPGRAS
560 570
LGSRLEDVLW LQEVSNLSEW LSPSPGP
Note: No experimental confirmation available.
Length:577
Mass (Da):64,047
Last modified:May 11, 2016 - v3
Checksum:i4CA7E34C0E212484
GO
Isoform 1 (identifier: Q8N6T0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGSRCRAWAWTRAWALAEFQARAEEGAAAAAAAAGGYPSTGRCRCSLRGM
     56-56: T → TRWSLTLLPRPECSGAVSAHCNLHLPGSSDSHASVPRVAGITDAHHHAWLIM

Note: Contains a signal peptide sequence at position 1-23.Sequence analysis
Show »
Length:677
Mass (Da):74,636
Checksum:iBA61390D27B9612F
GO
Isoform 2 (identifier: Q8N6T0-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     56-56: T → TRWSLTLLPRPECSGAVSAHCNLHLPGSSDSHASVPRVAGITDAHHHAWLIM
     387-423: Missing.

Show »
Length:591
Mass (Da):65,512
Checksum:i6762F4EE3BCAF491
GO

Sequence cautioni

The sequence AAH28240.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15387.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MGSRCRAWAWTRAWALAEFQ ARAEEGAAAAAAAAGGYPST GRCRCSLRGM in isoform 1. 1 PublicationVSP_058330
Alternative sequencei56 – 561T → TRWSLTLLPRPECSGAVSAH CNLHLPGSSDSHASVPRVAG ITDAHHHAWLIM in isoform 1 and isoform 2. 2 PublicationsVSP_058331
Alternative sequencei387 – 42337Missing in isoform 2. 1 PublicationVSP_058332Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP000485 Genomic DNA. No translation available.
AP001157 Genomic DNA. No translation available.
BC028240 mRNA. Translation: AAH28240.1. Different initiation.
AK026184 mRNA. Translation: BAB15387.1. Different initiation.
CCDSiCCDS53664.1. [Q8N6T0-4]
RefSeqiNP_001289013.1. NM_001302084.1.
NP_078926.3. NM_024650.3. [Q8N6T0-4]
UniGeneiHs.292088.

Genome annotation databases

EnsembliENST00000525908; ENSP00000432039; ENSG00000173715. [Q8N6T0-1]
GeneIDi79703.
KEGGihsa:79703.
UCSCiuc021qmd.2. human. [Q8N6T0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP000485 Genomic DNA. No translation available.
AP001157 Genomic DNA. No translation available.
BC028240 mRNA. Translation: AAH28240.1. Different initiation.
AK026184 mRNA. Translation: BAB15387.1. Different initiation.
CCDSiCCDS53664.1. [Q8N6T0-4]
RefSeqiNP_001289013.1. NM_001302084.1.
NP_078926.3. NM_024650.3. [Q8N6T0-4]
UniGeneiHs.292088.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

PTM databases

iPTMnetiQ8N6T0.

Polymorphism and mutation databases

BioMutaiC11orf80.
DMDMi519668662.

Proteomic databases

EPDiQ8N6T0.
PaxDbiQ8N6T0.
PRIDEiQ8N6T0.

Protocols and materials databases

DNASUi79703.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000525908; ENSP00000432039; ENSG00000173715. [Q8N6T0-1]
GeneIDi79703.
KEGGihsa:79703.
UCSCiuc021qmd.2. human. [Q8N6T0-1]

Organism-specific databases

CTDi79703.
GeneCardsiC11orf80.
HGNCiHGNC:26197. C11orf80.
HPAiHPA038932.
HPA038933.
MIMi616109. gene.
neXtProtiNX_Q8N6T0.
PharmGKBiPA162377704.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGZ1. Eukaryota.
ENOG410YW9Q. LUCA.
GeneTreeiENSGT00390000009327.
HOGENOMiHOG000168638.
HOVERGENiHBG103677.
InParanoidiQ8N6T0.
OMAiGTIESHC.
OrthoDBiEOG7PS1FM.
PhylomeDBiQ8N6T0.
TreeFamiTF337039.

Miscellaneous databases

ChiTaRSiC11orf80. human.
GenomeRNAii79703.
PROiQ8N6T0.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N6T0.
CleanExiHS_C11orf80.
ExpressionAtlasiQ8N6T0. baseline and differential.
GenevisibleiQ8N6T0. HS.

Family and domain databases

InterProiIPR028040. TopoVIB-like.
[Graphical view]
PANTHERiPTHR14652. PTHR14652. 1 hit.
PfamiPF15091. DUF4554. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 16-577 (ISOFORM 2).
  4. Cited for: TISSUE SPECIFICITY.
  5. "The TopoVIB-Like protein family is required for meiotic DNA double-strand break formation."
    Robert T., Nore A., Brun C., Maffre C., Crimi B., Bourbon H.M., de Massy B.
    Science 351:943-949(2016) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION (ISOFORM 3).

Entry informationi

Entry nameiTO6BL_HUMAN
AccessioniPrimary (citable) accession number: Q8N6T0
Secondary accession number(s): Q9H677
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: May 11, 2016
Last modified: July 6, 2016
This is version 85 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Expansion of a polymorphic CGG repeat within the 5'-UTR of this gene may be the cause of folate-sensitive fragile site FRA11A. The expansion is identified in the 15-year-old proband with mental retardation as well as in phenotypically normal members of the family.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.