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KBTBD10 Gene

protein-coding   GIFtS: 53

GC02P170074
kelch repeat and BTB (POZ) domain containing 10
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
KRP1 3
OTTHUMP00000163060 2
SARCOSIN 1, 2
Sarcosin 3
Descriptions
Kel-like protein 23 3
Kelch-related protein 1 3
kelch repeat and BTB (POZ) domain containing 10 2
kelch repeat and BTB domain containing 10 1
sarcomeric muscle protein 2
External Ids
HGNC: 169051
Entrez Gene: 103242
UniProtKB: O606623
Ensembl: ENSG000001544747
Search outside databases for aliases for KBTBD10 gene

Previous GC identifers: GC02P170568 GC02P170191

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: KBTBA_HUMAN, O60662
Function: Required for pseudopod elongation in transformed cells. Substrate-specific adapter of an
E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal
degradation of target proteins

Gene Wiki entry for KBTBD10

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the KBTBD10 gene  

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2p14-q14.3

KBTBD10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P170074:     (about GC identifiers)

Start:
170,074,458 bp from pter
End:
170,091,018 bp from pter
Size:
16,561 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000002.10  NT_005403.16  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: KBTBA_HUMAN, O60662 (See protein sequence)
Recommended Name: Kelch repeat and BTB domain-containing protein 10  
Size: 606 amino acids; 68037 Da
Subunit: Interacts with NRAP (By similarity). Part of a complex that contains CUL3, RBX1 and
KBTBD10
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, pseudopodium. Cell
projection, ruffle. Note=Predominantly cytoplasmic but can co-localize with F-actin at the
membrane ruffle-like structures at the tips of transformation-specific pseudopodia
Secondary accessions: Q53R42
Alternative splicing: 2 isoforms:  O60662-1   O60662-2   

Post-translational modifications:

  • Ubiquitinated and probably targeted for proteasome-independent degradation1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_006054.2  

    ENSEMBL proteins: 
    ENSP00000284669 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (KBTBD10)
    Human Recombinant Proteins from Abnova (KBTBD10)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    GO:0005856 cytoskeleton IEA--
    GO:0042995 cell projection IEA--
    About this table

    Antibodies for KBTBD10: 
    Browse Antibodies Central at Invitrogen
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    Sigma-Aldrich Antibodies for KBTBD10
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    Antibodies from Abcam (KBTBD10), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (KBTBD10)
    Novus Biologicals Antibodies for KBTBD10

    Assays for KBTBD10: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    5/8 InterPro domains/families (see all 8 ):
     IPR017096 Kelch-like_gigaxonin
     IPR000210 BTB/POZ-like
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ


       GeneDecks  KBTBD10 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O60662

    ProtoNet protein and cluster: O60662

    4 Blocks protein families:
    IPB000210 BTB/POZ domain
    IPB001497 Methylated-DNA-[protein]-cysteine S-methyltransferase
    IPB006651 Kelch repeat signature
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KBTBA_HUMAN, O60662
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 5 Kelch repeats

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KBTBD10)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006063

                  Applied Biosystems Silencer® siRNAs for KBTBD10

                  Sigma-Aldrich siRNA and siRNA Panels for KBTBD10  
                         Sigma-Aldrich shRNA for KBTBD10  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_006063
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_006063
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_006063 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_006063

    UniProtKB/Swiss-Prot: KBTBA_HUMAN, O60662
    Function: Required for pseudopod elongation in transformed cells. Substrate-specific adapter of an
    E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal
    degradation of target proteins

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    UniProtKB/Swiss-Prot: KBTBA_HUMAN, O60662
    Pathway: Protein modification; protein ubiquitination

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006941 striated muscle contraction TAS9655184
    GO:0019941 modification-dependent protein catabolic process IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for KBTBD10

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KBTBD10)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006063

                  Sigma-Aldrich siRNA and siRNA Panels for KBTBD10  
                         Sigma-Aldrich shRNA for KBTBD10  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_006063  

    REFSEQ mRNAs for KBTBD10 gene: 

    NM_006063.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_006063  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_006063
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_006063
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_006063 

    Additional cDNA sequence: 

    AF056929.1 AF333387.1 AK316571.1 AY364252.1 BC006534.2 

    6 DOTS entries:

    DT.318408  DT.100781183  DT.120973591  DT.100781185  DT.95358215  DT.95370555 

    24/236 AceView cDNA sequences (see all 236 ):

    AA393742 NM_006063 BM142673 AI668950 AI131111 BC006534 AA653726 BX641882 
    CB857422 BM977128 BU737302 AA418529 W21178 BX099518 F29300 BE250269 
    AI695762 AF333387 BQ960982 AU121012 BU581368 AI144214 AI367745 BI793162 

    highest scoring ESTs for KBTBD10:

    AA213904 AA055063 AA086230 AA086338 AA086367 AA086385 AA181365 AA192617 AA192620 AA193197 

    Unigene Cluster for KBTBD10:

    Kelch repeat and BTB (POZ) domain containing 10
    Hs.50550  [show with all ESTs]
    Unigene Representative Sequence: NM_006063


    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD10

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7
    SP1:        -     -     -                                       
    SP2:                                                            
    SP3:                    -                                       

    About this scheme

    ECgene alternative splicing isoforms for KBTBD10

    1 Ensembl transcript including schematic representation:
    ENST00000284669  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    KBTBD10 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for KBTBD10

    1 / 2 / 3

    6 probe-sets matching KBTBD10 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    45794_at2, 3 U95-B 2 1.00 0.97 1.00 0.87 AA213904 1.00 1.00 1.00 1
    58856_at2, 3 U95-C 1 0.69 1.00 1.00 1.15 AI972216 0.80 1.00 0.91 1

    219106_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_006063 0.60 1.00 0.82 1

    222827_s_at2, 3 U133-B 1 1.00 1.00 -- -- AI126808 0.60 1.00 0.82 1

    219106_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    222827_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  KBTBD10 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CCATAAGATG

    SOURCE GeneReport for Unigene cluster: Hs.50550

    UniProtKB/Swiss-Prot: KBTBA_HUMAN, O60662
    Tissue specificity: Sarcomeric muscle

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for KBTBD10 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    KBTBD101   -- kelch repeat and BTB (POZ) domain containing 10 93.45(n)
    97.19(a)
    478784  XM_854156.1  XP_859249.1 
    chimpanzee
    (Pan troglodytes)
    KBTBD101   -- kelch repeat and BTB (POZ) domain containing 10 99.94(n)
    100(a)
    459715  XM_001135383.1  XP_001135383.1 
    cow
    (Bos taurus)
    KBTBD101   -- kelch repeat and BTB (POZ) domain containing 10 94(n)
    97.52(a)
    505794  XM_582139.3  XP_582139.3 
    rat
    (Rattus norvegicus)
    Kbtbd101   -- kelch repeat and BTB (POZ) domain containing 10 88.12(n)
    95.21(a)
    117537  NM_057191.1  NP_476539.1 
    mouse
    (Mus musculus)
    Kbtbd101, 5 25
    kelch repeat and BTB (POZ) domain containing 101, 5 88.67(n)1
    95.38(a)1
    2280031  NM_001081087.11  NP_001074556.11 
     AA9143125  AK1326225  (see all 8)
    About this table        Species with no ortholog for KBTBD10

    ENSEMBL Gene Tree for KBTBD10
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for KBTBD10 gene
    KBTBD52  KBTBD82  KBTBD32  CCIN2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/81 NCBI SNPs in KBTBD10 are shown (see all 81 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 44)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs37549221,2
    C,F,H170072481(+) TGTTTT/GTTTCA 1 -- ng51 tfbs38Minor allele frequency- G:0.05EU EA WA 836
    rs346230171,2
    C,F170083010(-) TTTCAT/CTGGAG 1 V/M mis15Minor allele frequency- C:0.02NA EU EA WA 498
    rs287638681,2
    C,F170075345(+) ATGCCG/ACGAAG 1 T/A mis1 ese35Minor allele frequency- A:0.04NA EU EA WA 496
    rs287308671,2
    C170074542(+) GGATTC/TCCAGC 1 S/F mis1 ese31Minor allele frequency- T:0.01NA 74
    --
    rs168570081,2
    F170090777(+) TATCCT/CTAAAC 1 -- ut313Minor allele frequency- C:0.01NA 142
    rs37549231,2
    H170073846(+) TTCCAT/CGTAAG 1 -- ng514Minor allele frequency- C:0.00EU EA WA 418
    rs22930581,2
    C,F,H,O170079222(+) GATATT/CTGACT 1 -- int112Minor allele frequency- C:0.26EA NA EU WA 1688
    rs67389341,2
    A,C,F,H170085983(+) TGGGCG/AGGCCT 1 -- int14Minor allele frequency- A:0.15EU EA WA 418
    rs134173701,2
    A,C,F,H170081837(+) AGAACA/GTGATT 1 -- int17Minor allele frequency- G:0.36EU EA WA NA 558
    rs126929121,2
    C,F,H170084177(+) GTTTTT/CGAAGA 1 -- int14Minor allele frequency- C:0.09EU EA WA 408
    About this table

    HapMap Linkage Disequilibrium images for KBTBD10 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 607701

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/12 PubMed articles for KBTBD10 gene (see all 12 ):
    (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)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 10324 HGNC: 16905 AceView: KBTBD10 Ensembl:ENSG00000154474 euGenes: HUgn10324
    ECgene: KBTBD10 H-InvDB: KBTBD10
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for KBTBD10 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for KBTBD10:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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