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BTRC Gene

protein-coding   GIFtS: 65
GCID: GC10P103103

Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase

(Previous name: beta-transducin repeat containing)
  See BTRC-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase1 2     BETA-TRCP2
Epididymis Tissue Protein Li 2a2 3     FBXW12
E3RSIkappaB2 3     FWD12
FBW1A2 3     bTrCP2
FBXW1A2 3     bTrCP12
F-Box And WD Repeats Protein Beta-TrCP2 3     beta-TrCP12
PIkappaBalpha-E3 Receptor Subunit2 3     betaTrCP2
BTRCP3 5     F-Box And WD-Repeat Protein 1B2
Beta-Transducin Repeat Containing1     F-Box/WD Repeat-Containing Protein 1A2

External Ids:    HGNC: 11441   Entrez Gene: 89452   Ensembl: ENSG000001661677   OMIM: 6034825   UniProtKB: Q9Y2973   
ORGUL members:         

Export aliases for BTRC gene to outside databases

Previous GC identifers: GC10P102007 GC10P102347 GC10P103245 GC10P102778 GC10P096744


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BTRC Gene:
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid
motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex
called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins
are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs
containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by
this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The
encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to
ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor,
alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript
variants have been described. A related pseudogene exists in chromosome 6. (provided by RefSeq, Mar 2012)

GeneCards Summary for BTRC Gene:
BTRC (beta-transducin repeat containing E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with BTRC include split-hand/foot malformation 6, and cerebellar medulloblastoma. GO annotations related to this gene include ubiquitin-protein ligase activity and beta-catenin binding. An important paralog of this gene is FBXW7.

UniProtKB/Swiss-Prot: FBW1A_HUMAN, Q9Y297
Function: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex
which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds
to phosphorylated target proteins. SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt
signaling. SCF(BTRC) mediates the ubiquitination of NFKBIA, NFKBIB and NFKBIE; the degradation frees the
associated NFKB1 to translocate into the nucleus and to activate transcription. Ubiquitination of NFKBIA occurs
at 'Lys-21' and 'Lys-22'. SCF(BTRC) mediates the ubiquitination of phosphorylated NFKB1/nuclear factor NF-kappa-B
p105 subunit, ATF4, SMAD3, SMAD4, CDC25A, DLG1, FBXO5 and probably NFKB2. SCF(BTRC) mediates the ubiquitination
of phosphorylated SNAI1. May be involved in ubiquitination and subsequent proteasomal degradation through a
DBB1-CUL4 E3 ubiquitin-protein ligase. Required for activation of NFKB-mediated transcription by IL1B, MAP3K14,
MAP3K1, IKBKB and TNF. Required for proteolytic processing of GLI3

Gene Wiki entry for BTRC 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BTRC gene promoter:
         AML1a   MIF-1   STAT5A   Cdc5   Evi-1   HNF-1A   HNF-1   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBTRC promoter sequence
   Search Chromatin IP Primers for BTRC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BTRC


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

Entrez Gene cytogenetic band: 10q24.32   Ensembl cytogenetic band:  10q24.32   HGNC cytogenetic band: 10q24.32

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P103103:  view genomic region     (about GC identifiers)

Start:
103,113,820 bp from pter      End:
103,317,078 bp from pter
Size:
203,259 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FBW1A_HUMAN, Q9Y297 (See protein sequence)
Recommended Name: F-box/WD repeat-containing protein 1A  
Size: 605 amino acids; 68867 Da
Subunit: Homodimer. Self-associates. Component of the SCF(BTRC) complex formed of CUL1, SKP1, RBX1 and a BTRC
dimer. Direct interaction with SKP1 occurs via the F-box domain. Interacts with phosphorylated ubiquitination
substrates SMAD3 and SMAD4. Interacts with phosphorylated ubiquitination substrates CTNNB1, NFKBIA, NFKBIB,
NFKBIE, NFKB1/nuclear factor NF-kappa-B p105 subunit, ATF4, CDC25A, DLG1, FBXO5 and SNAI1; the interaction
requires the phosphorylation of the 2 serine residues in the substrate destruction motif D-S-G-X(2,3,4)-S. Binds
UBQLN1. Interacts with CDC34 and UBE2R2. Interacts with FBXW11. Interacts with CUL4A and DDB1. Part of a
SCF(BTRC)-like complex lacking CUL1, which is associated with phosphorylated NKBIA and RELA; RELA interacts
directly with NFKBIA. Interacts with HIV-1 Vpu. Interacts with the phosphorylated form of GLI3. Interacts with
CLU
2 PDB 3D structures from and Proteopedia for BTRC:
1P22 (3D)        2P64 (3D)    
Secondary accessions: B5MD49 Q5W141 Q5W142 Q9Y213
Alternative splicing: 2 isoforms:  Q9Y297-1   Q9Y297-2   

Explore the universe of human proteins at neXtProt for BTRC: NX_Q9Y297

Explore proteomics data for BTRC at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BTRC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001243785.1  NP_003930.1  NP_378663.1  

    ENSEMBL proteins: 
     ENSP00000359206   ENSP00000385339   ENSP00000359202   ENSP00000377088  
    Reactome Protein details: Q9Y297

    BTRC Human Recombinant Protein Products:

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    Novus Biologicals BTRC Protein
    Novus Biologicals BTRC Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for BTRC 

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    Search eBioscience for ELISAs for BTRC 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FBXW: F-boxes / WD-40 domains
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 7):
     IPR021977 Beta-TrCP_D
     IPR019775 WD40_repeat_CS
     IPR001810 F-box_dom
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep

    Graphical View of Domain Structure for InterPro Entry Q9Y297

    ProtoNet protein and cluster: Q9Y297

    UniProtKB/Swiss-Prot: FBW1A_HUMAN, Q9Y297
    Domain: The N-terminal D domain mediates homodimerization
    Similarity: Contains 1 F-box domain
    Similarity: Contains 7 WD repeats


    Find genes that share domains with BTRC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FBW1A_HUMAN, Q9Y297
    Function: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex
    which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds
    to phosphorylated target proteins. SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt
    signaling. SCF(BTRC) mediates the ubiquitination of NFKBIA, NFKBIB and NFKBIE; the degradation frees the
    associated NFKB1 to translocate into the nucleus and to activate transcription. Ubiquitination of NFKBIA occurs
    at 'Lys-21' and 'Lys-22'. SCF(BTRC) mediates the ubiquitination of phosphorylated NFKB1/nuclear factor NF-kappa-B
    p105 subunit, ATF4, SMAD3, SMAD4, CDC25A, DLG1, FBXO5 and probably NFKB2. SCF(BTRC) mediates the ubiquitination
    of phosphorylated SNAI1. May be involved in ubiquitination and subsequent proteasomal degradation through a
    DBB1-CUL4 E3 ubiquitin-protein ligase. Required for activation of NFKB-mediated transcription by IL1B, MAP3K14,
    MAP3K1, IKBKB and TNF. Required for proteolytic processing of GLI3

         Genatlas biochemistry entry for BTRC:
    beta transducin repeat containing protein,interacting with HIV Vpu to trigger the destruction of CD4 in the
    endoplasmic reticulum

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842contributes to ubiquitin-protein ligase activity IDA15448698
    GO:0005515protein binding IPI11238952
    GO:0008013beta-catenin binding IEA--
    GO:0045309protein phosphorylated amino acid binding IEA--
    GO:0046983protein dimerization activity IEA--
         
    Find genes that share ontologies with BTRC           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Btrc):
     cellular  hematopoietic system  immune system  mortality/aging  reproductive system 
     tumorigenesis 

    Find genes that share phenotypes with BTRC           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for BTRC: Btrctm1Paga Btrctm1Kin

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BTRC
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BTRC

    miRNA
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    miRTarBase miRNAs that target BTRC:
    hsa-mir-183-5p (MIRT004673), hsa-mir-92a-3p (MIRT049068), hsa-mir-193b-3p (MIRT016603), hsa-mir-15a-5p (MIRT051351), hsa-mir-16-5p (MIRT051304), hsa-mir-320a (MIRT044652), hsa-mir-10a-5p (MIRT005510), hsa-let-7e-5p (MIRT051452)

    Block miRNA regulation of human, mouse, rat BTRC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BTRC (see all 83):
    hsa-miR-3678-3p hsa-miR-582-3p hsa-miR-607 hsa-miR-15a hsa-miR-411 hsa-miR-1260b hsa-miR-3916 hsa-miR-629
    SwitchGear 3'UTR luciferase reporter plasmidBTRC 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BTRC

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): BTRC (NM_033637)
    Browse Sino Biological Human cDNA Clones
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    Addgene plasmids for BTRC 

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    eBioscience FlowRNA Probe Sets ( VA1-12179) for BTRC 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FBW1A_HUMAN, Q9Y297: Cytoplasm. Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--
    GO:0019005SCF ubiquitin ligase complex IDA19966869

    Find genes that share ontologies with BTRC           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for BTRC About   (see all 41)  
    See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    Wnt Signaling Pathway NetPath0.37
    Wnt Signaling Pathways0.40
    2Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    Ubiquitin mediated proteolysis0.35
    3TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway
    Alternative NF-kappaB pathway0.00
    4CDK-mediated phosphorylation and removal of Cdc6
    APC/C-mediated degradation of cell cycle proteins0.94
    SCF-beta-TrCP mediated degradation of Emi10.91
    Regulation of APC/C activators between G1/S and early anaphase0.94
    Activation of NF-kappaB in B Cells0.74
    Regulation of mitotic cell cycle0.94
    Degradation of beta-catenin by the destruction complex0.73
    Vpu mediated degradation of CD40.92
    5Regulation of PLK1 Activity at G2/M Transition
    Regulation of PLK1 Activity at G2/M Transition0.77
    Mitotic G2-G2/M phases0.69
    G2/M Transition0.70


    Find genes that share SuperPaths with BTRC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for BTRC
        Wnt Signaling Pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BTRC
        NF-KappaB (p50-p65) Pathway
    GSK3 Signaling
    Presenilin-Mediated Signaling
    WNT Signaling

    1 Cell Signaling Technology (CST) Pathway for BTRC
        Protein Stability

    5 GeneGo (Thomson Reuters) Pathways for BTRC
        Cell cycle ESR1 regulation of G1/S transition
    Cell cycle Regulation of G1/S transition (part 1)
    Proteolysis Putative ubiquitin pathway
    Cell cycle Role of SCF complex in cell cycle regulation
    Immune response MIF-JAB1 signaling

    Selected BioSystems Pathways for BTRC (see all 14)
        TGF-beta Receptor Signaling Pathway
    Wnt Signaling Pathway NetPath
    TNF-alpha/NF-kB Signaling Pathway
    mTOR signaling pathway
    Signaling events mediated by HDAC Class I

    Selected Reactome Pathways for BTRC (see all 9)
        deactivation of the beta-catenin transactivating complex
    SCF-beta-TrCP mediated degradation of Emi1
    Circadian Clock
    Prolactin receptor signaling
    Regulation of PLK1 Activity at G2/M Transition


    Selected Kegg Pathways  (Kegg details for BTRC) (see all 7):
        Oocyte meiosis
    Ubiquitin mediated proteolysis
    Wnt signaling pathway
    Hedgehog signaling pathway
    Hippo signaling pathway

    UniProtKB/Swiss-Prot: FBW1A_HUMAN, Q9Y297
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BTRC (see all 8): 

              HIV Host Response in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat
              Stem Cells in human mouse rat
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BTRC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BTRC (Q9Y2971, 2, 3 ENSP000003592064) via UniProtKB, MINT, STRING, and/or I2D (see all 265)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTNNB1P352221, 2, 3, ENSP000003444564EBI-307461,EBI-491549 MINT-8012296 MINT-1773933 MINT-8012282 I2D: score=7 STRING: ENSP00000344456
    SNAI1O958631, 2, 3, ENSP000002440504EBI-307461,EBI-1045459 MINT-7903697 I2D: score=2 STRING: ENSP00000244050
    CDC25AP303042, 3, ENSP000003037064MINT-49914 MINT-49900 MINT-49902 I2D: score=5 STRING: ENSP00000303706
    CDC34P494272, 3, ENSP000002155744MINT-16770 MINT-16769 I2D: score=5 STRING: ENSP00000215574
    NFKB2Q006532, 3, ENSP000001894444MINT-48617 MINT-6804748 I2D: score=5 STRING: ENSP00000189444
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000209protein polyubiquitination IEA--
    GO:0000278mitotic cell cycle TAS--
    GO:0006470protein dephosphorylation IEA--
    GO:0006511ubiquitin-dependent protein catabolic process IDA15448698

    Find genes that share ontologies with BTRC           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BTRC (FBW1A)

    3 Novoseek inferred chemical compound relationships for BTRC gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 53.7 9 17387146 (2), 11212302 (1), 19372209 (1), 16618120 (1) (see all 6)
    serine 31.1 7 15070733 (1), 17996332 (1), 19150432 (1), 11238952 (1) (see all 5)
    zinc 0 2 16298762 (1)



    Find genes that share compounds with BTRC           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BTRC gene (3 alternative transcripts): 
    NM_001256856.1  NM_003939.4  NM_033637.3  

    Unigene Cluster for BTRC:

    Beta-transducin repeat containing E3 ubiquitin protein ligase
    Hs.643802  [show with all ESTs]
    Unigene Representative Sequence: NM_033637
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370187(uc001ksz.1 uc001kta.3 uc001ktb.3 uc001ktc.3)
    ENST00000475200 ENST00000408038 ENST00000465182 ENST00000370183 ENST00000493877
    ENST00000393441
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate BTRC (see all 83):
    hsa-miR-3678-3p hsa-miR-582-3p hsa-miR-607 hsa-miR-15a hsa-miR-411 hsa-miR-1260b hsa-miR-3916 hsa-miR-629
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    Addgene plasmids for BTRC 
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    eBioscience FlowRNA Probe Sets ( VA1-12179) for BTRC 

    Additional mRNA sequence: 

    AF101784.1 AF129530.1 AK295870.1 AK313353.1 AK313417.1 AK314880.1 AY207475.1 AY207476.1 
    BC006204.2 BC027994.1 BC063673.1 CR749295.1 GU727631.1 Y14153.1 

    16 DOTS entries:

    DT.100778133  DT.97869214  DT.91752087  DT.100762657  DT.101980092  DT.100778134  DT.443990  DT.95196257 
    DT.121293360  DT.121293383  DT.91752083  DT.91752089  DT.95357657  DT.97772137  DT.91749951  DT.97839582 

    Selected AceView cDNA sequences (see all 209):

    BQ022438 AI913583 AW169082 AI241413 BQ961374 AY207475 AF101784 AA978302 
    AI075771 BM680713 AI474248 BF001281 BQ001075 BE466806 BM696131 AA758710 
    AA243810 AA478504 BE550622 BM997883 AA356877 NM_003939 BX099276 BU621667 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    BTRC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATAATGGAGT
    BTRC Expression
    About this image


    BTRC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 8 entries
             Odontoblasts Dentin
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    BTRC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BTRC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643802

    UniProtKB/Swiss-Prot: FBW1A_HUMAN, Q9Y297
    Tissue specificity: Expressed in epididymis (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BTRC (see all 8): 
              HIV Host Response in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat
              Stem Cells in human mouse rat
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

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    (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

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BTRC gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Btrc1 , 5 beta-transducin repeat containing protein1, 5 90.85(n)1
    98.68(a)1
      19 (38.75 cM)5
    122341  NM_001286465.11  NP_001273394.11 
     453637345 
    chicken
    (Gallus gallus)
    Aves BTRC1 beta-transducin repeat containing 84.38(n)
    96.17(a)
      423854  XM_004942218.1  XP_004942275.1 
    lizard
    (Anolis carolinensis)
    Reptilia BTRC6
    beta-transducin repeat containing E3 ubiquitin pro...
    93(a)
    1 ↔ 1
    GL343239.1(800838-958244)
    African clawed frog
    (Xenopus laevis)
    Amphibia btrc-A-prov2 beta-transducin repeat containing 82.72(n)    M98268.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta slmb1 , 3 circadian rhythm ubiquitin-protein
    ligase3
    supernumerary limbs1
    80(a)3
    67.01(n)1
    80.91(a)1
      425041  NM_001275872.11  NP_001262801.11 
    worm
    (Caenorhabditis elegans)
    Secernentea lin-236
    Protein LIN-23 (lin-23) mRNA, complete cds
    48(a)
    1 → many
    II(6371305-6374534) WBGene00003009
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MET306
    F-box protein containing five copies of the WD40 m...
    23(a)
    1 → many
    IX(268651-270573) YIL046W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BTRC gene
    FBXW72  TRAF72  FBXW22  FBXW112  WDR862  ZNF1062  
    7 SIMAP similar genes for BTRC using alignment to 5 protein entries:     FBW1A_HUMAN (see all proteins):
    DKFZp781N011    FBXW11    PF20    WSB1    FBXW7    POC1B
    WDR83

    Find genes that share paralogs with BTRC           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for BTRC
    PGOHUM00000243384


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BTRC (see all 3550)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1995114531,2
    C--96741799(+) TATTT-/ATTTTT 3 -- us2k10--------
    rs111909541,2
    F,H--96741920(+) TTCAAG/AAACAA 3 -- us2k14Minor allele frequency- A:0.01NS EA 414
    rs1824019071,2
    --96741940(+) TTAACA/TGAAAG 3 -- us2k10--------
    rs111909551,2
    C,F,A,H--96742075(+) CCATTC/TCTTTT 3 -- us2k1 trp315Minor allele frequency- T:0.19NS EA WA NA CSA 1204
    rs1868796911,2
    --96742140(+) AGTGGC/TTTTTG 3 -- us2k10--------
    rs2012570081,2
    --96742224(+) AGATG-/ATGTCTG 3 -- us2k10--------
    rs1912949481,2
    --96742253(+) ACCATC/TTGTTG 3 -- us2k10--------
    rs1435466631,2
    --96742346(+) AAATTC/TAGATA 3 -- us2k10--------
    rs714857671,2
    C--96742395(-) AAAAA-/AAAAAA 3 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1839292891,2
    C--96742445(+) GTAGCA/GTGATC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for BTRC (103113820 - 103317078 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for BTRC:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661408CNV Deletion23128226
    esv2658484CNV Deletion23128226
    esv2750847CNV Gain17911159
    nsv895967CNV Gain21882294
    nsv831967CNV Gain17160897

    Human Gene Mutation Database (HGMD): BTRC
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BTRC
    DNA2.0 Custom Variant and Variant Library Synthesis for BTRC

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

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    OMIM gene information: 603482    OMIM disorders: --

    3 diseases for BTRC:    
    About MalaCards
    split-hand/foot malformation 6    cerebellar medulloblastoma    hiv-1


    Find genes that share disorders with BTRC           About GenesLikeMe

    Selected Novoseek inferred disease relationships for BTRC gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial adenomatous polyposis 48.2 5 11212302 (1), 14970870 (1), 19582507 (1)
    cancer 25.2 16 18500245 (2), 19931512 (1), 15753389 (1), 16778892 (1) (see all 8)
    tumors 25 28 15292388 (5), 12898158 (3), 19931512 (2), 17387146 (2) (see all 13)
    somatic mutations 14.6 3 17295679 (3)
    colorectal cancer 11.7 7 15292388 (4), 16778892 (1), 16510874 (1)
    necrosis 8.78 4 10644755 (1), 19966869 (1), 14592850 (1)
    immunodeficiency 7.4 2 14561767 (1)
    leukemia 0 1 14526201 (1)
    primary tumor 0 1 15292388 (1)
    breast cancer 0 6 15753389 (2), 16278670 (1)

    Genetic Association Database (GAD): BTRC
    Human Genome Epidemiology (HuGE) Navigator: BTRC (5 documents)

    Export disorders for BTRC gene to outside databases

    (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)
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    PubMed articles for BTRC gene, integrated from 10 sources (see all 317):
    (articles sorted by number of sources associating them with BTRC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human WD protein, h-beta TrCp, that interacts with HIV-1 Vpu connects CD4 to the ER degradation pathway through an F-box motif. (PubMed id 9660940)1, 2, 3 Margottin F.... Benarous R. (Mol. Cell 1998)
    2. An insertion/deletion polymorphism in the 3' untranslated region of beta-transducin repeat-containing protein (betaTrCP) is associated with susceptibility for hepatocellular carcinoma in Chinese. (PubMed id 19931512)1, 4, 9 Chen S....Gao Y. (Biochem. Biophys. Res. Commun. 2010)
    3. Homodimer of two F-box proteins betaTrCP1 or betaTrCP2 binds to IkappaBalpha for signal-dependent ubiquitination. (PubMed id 10644755)1, 2, 9 Suzuki H.... Tanaka K. (J. Biol. Chem. 2000)
    4. Regulation of the discs large tumor suppressor by a phosphorylation- dependent interaction with the beta-TrCP ubiquitin ligase receptor. (PubMed id 12902344)1, 2, 9 Mantovani F. and Banks L. (J. Biol. Chem. 2003)
    5. SCFbeta-TRCP controls oncogenic transformation and neural differentiation through REST degradation. (PubMed id 18354483)1, 3, 9 Westbrook T.F....Elledge S.J. (Nature 2008)
    6. Somatic mutations of the beta-TrCP gene in gastric cancer. (PubMed id 17295679)1, 4, 9 Kim C.J....Park W.S. (APMIS 2007)
    7. ATF4 degradation relies on a phosphorylation-dependent interaction with the SCF(betaTrCP) ubiquitin ligase. (PubMed id 11238952)1, 2, 9 Lassot I.... Margottin-Goguet F. (Mol. Cell. Biol. 2001)
    8. IkappaBalpha ubiquitination is catalyzed by an SCF-like complex containing Skp1, cullin-1, and two F-box/WD40-repeat proteins, betaTrCP1 and betaTrCP2. (PubMed id 10066435)1, 2, 9 Suzuki H.... Tanaka K. (Biochem. Biophys. Res. Commun. 1999)
    9. Multisite protein kinase A and glycogen synthase kinase 3beta phosphorylation leads to Gli3 ubiquitination by SCFbetaTrCP. (PubMed id 16705181)1, 2, 9 Tempe D.... Concordet J.P. (Mol. Cell. Biol. 2006)
    10. Ligand-dependent degradation of Smad3 by a ubiquitin ligase complex of ROC1 and associated proteins. (PubMed id 11359933)1, 2, 9 Fukuchi M....Miyazono K. (Mol. Biol. Cell 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 8945 HGNC: 1144 AceView: BTRC Ensembl:ENSG00000166167 euGenes: HUgn8945
    ECgene: BTRC Kegg: 8945 H-InvDB: BTRC

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BTRC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BTRC Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for BTRC gene:
    Search GeneIP for patents involving BTRC

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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