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Aliases for C11orf80 Gene

Aliases for C11orf80 Gene

  • Chromosome 11 Open Reading Frame 80 2 3 5
  • Type 2 DNA Topoisomerase VI Subunit B-Like 3 4
  • TOPOVIBL 3 4
  • TOP6BL 3 4
  • Type 2 DNA Topoisomerase 6 Subunit B-Like 3

External Ids for C11orf80 Gene

Previous GeneCards Identifiers for C11orf80 Gene

  • GC11P066269
  • GC11P066512
  • GC11P062840

Summaries for C11orf80 Gene

GeneCards Summary for C11orf80 Gene

C11orf80 (Chromosome 11 Open Reading Frame 80) is a Protein Coding gene.

UniProtKB/Swiss-Prot for C11orf80 Gene

  • 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C11orf80 Gene

Genomics for C11orf80 Gene

Regulatory Elements for C11orf80 Gene

Enhancers for C11orf80 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F066799 0.7 ENCODE 31.3 +56.8 56776 3.0 HDAC1 PKNOX1 ATF1 CBX3 CREB3L1 SIN3A USF2 TBX21 CREB3 TFDP1 C11orf80 ACTN3 RCE1 SPTBN2 RN7SL12P LRFN4 PC RHOD LOC100505504 GC11M066772
GH11F066879 0.6 Ensembl ENCODE 19.6 +137.5 137540 4.8 TBP PKNOX1 SREBF2 ZNF76 ARID4B SIN3A ZNF2 RAD21 RFX5 ZNF143 C11orf80 ACTN3 CTSF RAD9A RCE1 LRFN4 PC RNU7-23P RHOD LOC100505504
GH11F066841 0.2 ENCODE 19 +98.9 98907 3.6 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 FOS KLF13 ZNF263 C11orf80 CTSF ACTN3 MRPL11 PC CD248 CLCF1 RHOD CDK2AP2 RIN1
GH11F066903 0.9 Ensembl ENCODE 18.9 +162.2 162182 5.6 ARID4B DMAP1 YY1 FOS SP5 NFYC PPARG ZNF623 MAFF ZSCAN16 PC C11orf80 RHOD ACTN3 CTSF RIN1 C11orf86 LRFN4 SYT12 LOC100505504
GH11F066694 0.8 Ensembl ENCODE 12.1 -49.6 -49601 1.0 HDGF ARNT CREB3L1 ARID4B SIN3A ZNF48 BRCA1 ZNF2 SLC30A9 CBX5 SPTBN2 C11orf80 RCE1 ACTN3 ZDHHC24 LRFN4 PC RNU7-23P BRD9P1 RNU1-84P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C11orf80 on UCSC Golden Path with GeneCards custom track

Promoters for C11orf80 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000564064 349 2401 CREB3L1 ARID4B SIN3A YY1 GTF3C2 GLIS2 ZNF143 KLF7 FOS KLF13

Genomic Location for C11orf80 Gene

Chromosome:
11
Start:
66,744,451 bp from pter
End:
66,843,516 bp from pter
Size:
99,066 bases
Orientation:
Plus strand

Genomic View for C11orf80 Gene

Genes around C11orf80 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C11orf80 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C11orf80 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C11orf80 Gene

Proteins for C11orf80 Gene

  • Protein details for C11orf80 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6T0-TO6BL_HUMAN
    Recommended name:
    Type 2 DNA topoisomerase 6 subunit B-like
    Protein Accession:
    Q8N6T0
    Secondary Accessions:
    • Q9H677

    Protein attributes for C11orf80 Gene

    Size:
    577 amino acids
    Molecular mass:
    64047 Da
    Quaternary structure:
    • Isoform 3: Heterotetramer of SPO11 and 2 TOP6BL chains. Isoform 3: Interacts with SPO11.
    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.
    SequenceCaution:
    • Sequence=AAH28240.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15387.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for C11orf80 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C11orf80 Gene

Post-translational modifications for C11orf80 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C11orf80 Gene

Domains & Families for C11orf80 Gene

Protein Domains for C11orf80 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C11orf80 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N6T0

UniProtKB/Swiss-Prot:

TO6BL_HUMAN :
  • 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.
  • Belongs to the TOP6B-like family.
Domain:
  • 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.
Family:
  • Belongs to the TOP6B-like family.
genes like me logo Genes that share domains with C11orf80: view

No data available for Gene Families for C11orf80 Gene

Function for C11orf80 Gene

Molecular function for C11orf80 Gene

UniProtKB/Swiss-Prot Function:
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.
genes like me logo Genes that share phenotypes with C11orf80: view

Animal Model Products

miRNA for C11orf80 Gene

miRTarBase miRNAs that target C11orf80

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C11orf80 Gene

Localization for C11orf80 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C11orf80 Gene

Chromosome. Note=Localizes to meiotic chromosomes. {ECO:0000250 UniProtKB:J3QMY9}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C11orf80 Gene COMPARTMENTS Subcellular localization image for C11orf80 gene
Compartment Confidence
cytoskeleton 3
nucleus 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for C11orf80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with C11orf80: view

Pathways & Interactions for C11orf80 Gene

SuperPathways for C11orf80 Gene

No Data Available

Interacting Proteins for C11orf80 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000354227%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000354227 for C11orf80 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for C11orf80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007131 reciprocal meiotic recombination ISS --
GO:0042138 meiotic DNA double-strand break formation IEA,ISS --
GO:0051321 meiotic cell cycle IEA --
genes like me logo Genes that share ontologies with C11orf80: view

No data available for Pathways by source and SIGNOR curated interactions for C11orf80 Gene

Transcripts for C11orf80 Gene

Unigene Clusters for C11orf80 Gene

Chromosome 11 open reading frame 80:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C11orf80 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - -
SP2: - - - - -
SP3: - - -
SP4:
SP5:
SP6: -
SP7: - - -
SP8:

Relevant External Links for C11orf80 Gene

GeneLoc Exon Structure for
C11orf80
ECgene alternative splicing isoforms for
C11orf80

Expression for C11orf80 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C11orf80 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C11orf80 Gene

This gene is overexpressed in Tlymphocyte (46.7) and Heart (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C11orf80 Gene



Protein tissue co-expression partners for C11orf80 Gene

NURSA nuclear receptor signaling pathways regulating expression of C11orf80 Gene:

C11orf80

SOURCE GeneReport for Unigene cluster for C11orf80 Gene:

Hs.292088

mRNA Expression by UniProt/SwissProt for C11orf80 Gene:

Q8N6T0-TO6BL_HUMAN
Tissue specificity: Detected in lung, spleen,colon and in skeletal muscle.
genes like me logo Genes that share expression patterns with C11orf80: view

Primer Products

No data available for mRNA differential expression in normal tissues for C11orf80 Gene

Orthologs for C11orf80 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C11orf80 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C11H11orf80 34
  • 99.02 (n)
C11orf80 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C29H11orf80 34
  • 82.45 (n)
C11orf80 35
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C18H11orf80 34
  • 80.87 (n)
C11orf80 35
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm960 34 16 35
  • 74.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C11orf80 35
  • 39 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:195212 34
  • 40.67 (n)
C14H11orf80 35
  • 19 (a)
OneToOne
Species where no ortholog for C11orf80 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C11orf80 Gene

ENSEMBL:
Gene Tree for C11orf80 (if available)
TreeFam:
Gene Tree for C11orf80 (if available)

Paralogs for C11orf80 Gene

No data available for Paralogs for C11orf80 Gene

Variants for C11orf80 Gene

Sequence variations from dbSNP and Humsavar for C11orf80 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs10128594 -- 66,832,017(+) aaaaa(A/C)aaaaa intron-variant
rs10750790 -- 66,814,739(+) GAGAA(A/G)TGCTT intron-variant
rs10791890 -- 66,751,519(+) TTTTA(C/T)AGAGA intron-variant
rs10791891 -- 66,761,223(+) aaaat(C/T)agccg intron-variant
rs10791892 -- 66,782,269(+) TCTAG(C/G)TAGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C11orf80 Gene

Variant ID Type Subtype PubMed ID
esv2665794 CNV deletion 23128226
esv2744640 CNV deletion 23290073
esv2744642 CNV deletion 23290073
esv3547920 CNV deletion 23714750
esv3626698 CNV loss 21293372
nsv1134146 CNV deletion 24896259
nsv364 CNV insertion 18451855
nsv468602 CNV loss 19166990
nsv508638 CNV deletion 20534489
nsv516087 CNV gain 19592680
nsv555225 CNV loss 21841781
nsv555226 CNV gain 21841781
nsv951020 CNV deletion 24416366

Variation tolerance for C11orf80 Gene

Residual Variation Intolerance Score: 34.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C11orf80 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C11orf80

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C11orf80 Gene

Disorders for C11orf80 Gene

Relevant External Links for C11orf80

Genetic Association Database (GAD)
C11orf80
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C11orf80

No disorders were found for C11orf80 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C11orf80 Gene

Publications for C11orf80 Gene

  1. The TopoVIB-Like protein family is required for meiotic DNA double- strand break formation. (PMID: 26917764) Robert T. … de Massy B. (Science 2016) 2 3 4 64
  2. The molecular basis of the folate-sensitive fragile site FRA11A at 11q13. (PMID: 18160775) Debacker K. … Kooy F. (Cytogenet. Genome Res. 2007) 2 3 4 64
  3. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) (Nat. Genet. 2011) 3 46 64
  4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4 64

Products for C11orf80 Gene

Sources for C11orf80 Gene

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