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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KBTBD11 Gene

protein-coding   GIFtS: 43
GCID: GC08P001912

kelch repeat and BTB (POZ) domain containing 11
 Explore 1 disease affiliated with
KBTBD11 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KBTBD11    

Aliases
for KBTBD11 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Kelch Repeat And BTB (POZ) Domain Containing 111 2     Kelch Domain-Containing Protein 7B2 3
KLHDC7C1 2 3     Kelch Repeat And BTB Domain-Containing Protein 112
KIAA07111 3     CMLAP3
Chronic Myelogenous Leukemia-Associated Protein2 3     

External Ids:    HGNC: 291041   Entrez Gene: 99202   Ensembl: ENSG000001765957   UniProtKB: O948193   

Export aliases for KBTBD11 gene to outside databases

Previous GC identifers: GC08U900604 GC08P001764


Summaries
for KBTBD11 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
  --

Genomic Views
for KBTBD11 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_023736.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KBTBD11 gene promoter:
         Bach1   HOXA9B   HOXA9   Elk-1   NF-kappaB   Nkx6-1   NF-kappaB2   Meis-1a   NF-kappaB1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KBTBD11 promoter sequence
   Search SABiosciences Chromatin IP Primers for KBTBD11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KBTBD11


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p23.3   Ensembl cytogenetic band:  8p23.3   HGNC cytogenetic band: 8p23.3

KBTBD11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KBTBD11 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P001912:  view genomic region     (about GC identifiers)

Start:
 1,922,044 bp from pter      End:
 1,955,109 bp from pter
Size:
 33,066 bases      Orientation:
 plus strand

Proteins
for KBTBD11 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: KBTBB_HUMAN, O94819 (See protein sequence)
Recommended Name: Kelch repeat and BTB domain-containing protein 11  
Size: 623 amino acids; 65720 Da
Sequence caution: Sequence=BAA34431.2; Type=Erroneous initiation;
Secondary accessions: Q3L1I0

Explore the universe of human proteins at neXtProt for KBTBD11: NX_O94819

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O94819

    • KBTBD11 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055682.1  
    ENSEMBL proteins: 
     ENSP00000321544  

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    Protein Domains /
    Families
    for KBTBD11 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KBTBD11 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000210 BTB/POZ-like
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ
     IPR015915 Kelch-typ_b-propeller

    Graphical View of Domain Structure for InterPro Entry O94819

    ProtoNet protein and cluster: O94819

    1 Blocks protein family: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: KBTBB_HUMAN, O94819
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 4 Kelch repeats


    Function
    for KBTBD11 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    hsa-miR-498 hsa-miR-668 hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-3692 hsa-miR-629* hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmid: KBTBD11 3' UTR sequence
    Inhib. RNA
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    2 GenomeRNAi human phenotypes for KBTBD11:
     Increased cell death HMECs cel  Synthetic lethal with c-Myc af 


    Pathways & Interactions
    for KBTBD11 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KBTBD11

    1 Interacting protein for KBTBD11 (O948193) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2IPQ96RT13I2D: score=1 
    About this table

    Drugs & Compounds
    for KBTBD11 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KBTBD11
    Search CenterWatch for drugs/clinical trials and news about KBTBD11 / KBTBB 

    Transcripts
    for KBTBD11 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KBTBD11 gene: 
    NM_014867.2  

    Unigene Cluster for KBTBD11:

    Kelch repeat and BTB (POZ) domain containing 11
    Hs.5333  [show with all ESTs]
    Unigene Representative Sequence: NM_014867
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000320248(uc003wpw.4)

    miRNA
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    hsa-miR-498 hsa-miR-668 hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-3692 hsa-miR-629* hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmid: KBTBD11 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KBTBD11
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KBTBD11
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KBTBD11

    Additional cDNA sequence: 

    AB018254.1 AF009203.1 AY762229.1 

    4 DOTS entries:

    DT.455724  DT.100675662  DT.92421510  DT.95374626 

    GeneLoc Exon Structure


    Expression
    for KBTBD11 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KBTBD11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCGAGATGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KBTBD11 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    EyeRetinaEye
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

    See KBTBD11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KBTBD11

    SOURCE GeneReport for Unigene cluster: Hs.5333
        SABiosciences Custom PCR Arrays for KBTBD11
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KBTBD11

    Orthologs
    for KBTBD11 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for KBTBD11 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves KBTBD111 kelch repeat and BTB (POZ) domain containing 11 68.12(n)
    65.34(a)    		   428648  XM_426206.3  XP_426206.1 
    lizard
    (Anolis carolinensis)    		 Reptilia KBTBD116
    		 --
    		 59(a)
    		 1 ↔ 1
    		 1(158555912-158557192)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5574671 kelch repeat and BTB domain-containing protein 11-like 56.46(n)
    53.74(a)    		   557467  XM_680547.5  XP_685639.4 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG18126
    		 --
    		 19(a)
    		 1 → many
    		 X(20382574-20386859)


    ENSEMBL Gene Tree for KBTBD11 (if available)
    TreeFam Gene Tree for KBTBD11 (if available) 

    Paralogs
    for KBTBD11 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KBTBD11 gene
    KLHL422  KLHL132  KLHL222  KLHL262  KLHL342  KBTBD132  KLHL312  KLHL92  
    KLHL322  KLHL142  KLHDC7B2  KLHL152  KLHL362  KLHL332  KLHDC7A2  
    1 SIMAP similar gene for KBTBD11 using alignment to 1 protein entry:     KBTBB_HUMAN:
    KLHDC7B

    KBTBD11 for paralogs           About GeneDecksing



    Genomic Variants
    for KBTBD11 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/987 NCBI SNPs in KBTBD11 are shown (see all 987)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1419412851,2
    		--1920223(+) GGACTC/TCCCAC 1 -- us2k10--------
    rs762240131,2
    		F,--1920242(+) TATCTA/GCCAGA 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs44908841,2
    		C,F,A,H,--1920390(-) ACCATC/TCTGCC 1 -- us2k131Minor allele frequency- T:0.14NS EA NA WA CSA 2781
    rs42425471,2
    		C,F,A,H,--1920411(-) AAGCCC/TGACAG 1 -- us2k112Minor allele frequency- T:0.36NA WA CSA EA 376
    rs1168426801,2
    		--1920458(+) GGCCTT/CTGGAG 1 -- us2k11Minor allele frequency- C:0.01NA 120
    rs42425461,2
    		C,F,A,H,--1920461(-) GGCCTT/CCAAAG 1 -- us2k125Minor allele frequency- C:0.24NS EA NA WA CSA 2356
    rs1469026971,2
    		--1920532(+) GAAAA-/GAATGG 1 -- us2k10--------
    rs42425451,2
    		C,F,A,H,--1920626(-) GTCTCT/GATCTC 1 -- us2k111Minor allele frequency- G:0.22NA WA CSA EA 138
    rs1457408441,2
    		--1920752(+) CTTGAA/GCCCAG 1 -- us2k10--------
    rs1812163381,2
    		--1920781(+) AGCCGA/CGATTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KBTBD11 (1922044 - 1955109 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for KBTBD11
         2 CNVs: 70206 65023
         4 Indels: 60689 28885 70205 28884

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    Disorders / Diseases
    for KBTBD11 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    KBTBD11 for disorders           About GeneDecksing

    1 disease for KBTBD11:    About MalaCards
    leukemia


    Export disorders for KBTBD11 gene to outside databases

    Publications
    for KBTBD11 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KBTBD11 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KBTBD11)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2 Nagase T.... Ohara O. (1998)
    2. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    3. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1 Rush J.... Comb M.J. (2005)
    4. Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. (PubMed id 14508709)1 Verhoeven K.... Timmerman V. (2003)
    5. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
    6. High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. (PubMed id 9314494)1 Ranta S....Gilliam T.C. (1997)

    External Searches for KBTBD11 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing KBTBD11 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9920 HGNC: 29104 Ensembl:ENSG00000176595 euGenes: HUgn9920 ECgene: KBTBD11
    H-InvDB: KBTBD11

    Other Databases showing KBTBD11 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0711

    Specialized Databases showing KBTBD11 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KBTBD11 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for KBTBD11 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for KBTBD11 gene:
    Search GeneIP for patents involving KBTBD11

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for KBTBD11 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    von Willebrand factor
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