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BTBD1 Gene

protein-coding   GIFtS: 52
GCID: GC15M083685

BTB (POZ) Domain Containing 1

  See BTBD1-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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Aliases
BTB (POZ) Domain Containing 11 2     HCV NS5A-Transactivated Protein 82 3
Hepatitis C Virus NS5A-Transactivated Protein 82 3     BTB Domain Containing 12
C15orf12 3     BTB/POZ Domain-Containing Protein 12
NS5ATP82 3     

External Ids:    HGNC: 11201   Entrez Gene: 533392   Ensembl: ENSG000000647267   OMIM: 6085305   UniProtKB: Q9H0C53   

Export aliases for BTBD1 gene to outside databases

Previous GC identifers: GC15M079611 GC15M076717 GC15M081263 GC15M081404 GC15M081476 GC15M059948


(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 BTBD1 Gene:
The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich
region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which
are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic
bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. (provided by
RefSeq, Jul 2008)

GeneCards Summary for BTBD1 Gene:
BTBD1 (BTB (POZ) domain containing 1) is a protein-coding gene. Diseases associated with BTBD1 include hepatitis c, and hepatitis c virus. An important paralog of this gene is BTBD2.

UniProtKB/Swiss-Prot: BTBD1_HUMAN, Q9H0C5
Function: Probable 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 BTBD1 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_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BTBD1 gene promoter:
         Lmo2   GATA-1   YY1   GATA-2   c-Ets-1   FOXJ2 (long isoform)   FOXJ2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBTBD1 promoter sequence
   Search Chromatin IP Primers for BTBD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BTBD1


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

Entrez Gene cytogenetic band: 15q24   Ensembl cytogenetic band:  15q25.2   HGNC cytogenetic band: 15q24

BTBD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M083685:  view genomic region     (about GC identifiers)

Start:
83,685,174 bp from pter      End:
83,736,106 bp from pter
Size:
50,933 bases      Orientation:
minus 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: BTBD1_HUMAN, Q9H0C5 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein 1  
Size: 482 amino acids; 52771 Da
Subunit: Interacts with topoisomerase 1 and with TRIM5 isoform Delta. Interacts with CUL3
Secondary accessions: A6NMI8 Q9BX71 Q9NWN4
Alternative splicing: 2 isoforms:  Q9H0C5-1   Q9H0C5-2   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for BTBD1: NX_Q9H0C5

Explore proteomics data for BTBD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys52, Lys264, Lys270, Lys388
  • Modification sites at PhosphoSitePlus

  • See BTBD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001011885.1  NP_079514.1  

    ENSEMBL proteins: 
     ENSP00000261721   ENSP00000368713   ENSP00000453104  

    BTBD1 Human Recombinant Protein Products:

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    Novus Biologicals BTBD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for BTBD1

     
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    Search eBioscience for ELISAs for BTBD1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BTBD: BTB/POZ domain containing

    5 InterPro protein domains:
     IPR012983 PHR
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ
     IPR011705 BACK

    Graphical View of Domain Structure for InterPro Entry Q9H0C5

    ProtoNet protein and cluster: Q9H0C5

    3 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated
    IPB012983 PHR


    UniProtKB/Swiss-Prot: BTBD1_HUMAN, Q9H0C5
    Similarity: Contains 1 BTB (POZ) domain


    Find genes that share domains with BTBD1           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: BTBD1_HUMAN, Q9H0C5
    Function: Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the
    ubiquitination and subsequent proteasomal degradation of target proteins

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12878161
         
    Find genes that share ontologies with BTBD1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BTBD1:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BTBD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BTBD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BTBD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BTBD1

    miRNA
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    miRTarBase miRNAs that target BTBD1:
    hsa-let-7a-5p (MIRT052407)

    Block miRNA regulation of human, mouse, rat BTBD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BTBD1 (see all 9):
    hsa-miR-142-5p hsa-miR-300 hsa-miR-381 hsa-miR-340 hsa-miR-211 hsa-miR-105 hsa-miR-204 hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmidBTBD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BTBD1

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD1


    (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
    BTBD1_HUMAN, Q9H0C5: Cytoplasm, P-body. Note=Cytoplasmic bodies
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000932cytoplasmic mRNA processing body IDA12878161
    GO:0043234protein complex IDA--

    Find genes that share ontologies with BTBD1           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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    UniProtKB/Swiss-Prot: BTBD1_HUMAN, Q9H0C5
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including BTBD1: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BTBD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for BTBD1 (Q9H0C53 ENSP000002617214) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS6Q7L5N13, ENSP000003041024I2D: score=2 STRING: ENSP00000304102
    TOP1P113873, ENSP000003545224I2D: score=2 STRING: ENSP00000354522
    BTBD2Q9BX703, ENSP000002556084I2D: score=1 STRING: ENSP00000255608
    SUMO1P631653, ENSP000003760764I2D: score=1 STRING: ENSP00000376076
    AXIN2Q9Y2T13I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016567protein ubiquitination IEA--
    GO:0043393regulation of protein binding NAS11179693

    Find genes that share ontologies with BTBD1           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 BTBD1



    (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 BTBD1 gene (2 alternative transcripts): 
    NM_001011885.1  NM_025238.3  

    Unigene Cluster for BTBD1:

    BTB (POZ) domain containing 1
    Hs.459149  [show with all ESTs]
    Unigene Representative Sequence: NM_025238
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261721(uc002bjn.3 uc002bjo.3) ENST00000379403 ENST00000559652
    ENST00000558344 ENST00000560015
    miRNA
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    Block miRNA regulation of human, mouse, rat BTBD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BTBD1 (see all 9):
    hsa-miR-142-5p hsa-miR-300 hsa-miR-381 hsa-miR-340 hsa-miR-211 hsa-miR-105 hsa-miR-204 hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmidBTBD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BTBD1
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BTBD1 (NM_014867)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BTBD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD1
    Primer
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    OriGene qPCR primer pairs and template standards for BTBD1
    OriGene qSTAR qPCR primer pairs in human, mouse for BTBD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat BTBD1
      QuantiTect SYBR Green Assays in human, mouse, rat BTBD1
      QuantiFast Probe-based Assays in human, mouse, rat BTBD1

    Additional mRNA sequence: 

    AF257241.1 AF355402.1 AF529369.1 AK000731.1 AK225355.1 AK225362.1 AK294410.1 AK298534.1 
    AL136853.1 AY364253.1 BC017464.1 BC028097.1 

    7 DOTS entries:

    DT.217919  DT.91961832  DT.95308190  DT.95308138  DT.95308189  DT.121078764  DT.121078744 

    Selected AceView cDNA sequences (see all 292):

    CR610149 AA856635 CA428620 CR602779 CB162135 BU689561 AI811556 AF529369 
    Z39435 AI797035 AI086075 BU154302 AI468782 AA460255 CB132603 BG610970 
    AA584323 AA576985 AA764916 BM786822 F04370 AA742685 AA300965 BU161396 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for BTBD1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
    SP1:                                            -     -     -                     
    SP2:                                            -                                 
    SP3:                                                                              
    SP4:                                                                              


    ECgene alternative splicing isoforms for BTBD1

    (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)
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    BTBD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCCATAAA
    BTBD1 Expression
    About this image

    BTBD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BTBD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.459149

    UniProtKB/Swiss-Prot: BTBD1_HUMAN, Q9H0C5
    Tissue specificity: Ubiquitous; higher levels in heart and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including BTBD1: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for BTBD1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Btbd11 , 5 BTB (POZ) domain containing 11, 5 91.01(n)1
    97.51(a)1
      7 (45.71 cM)5
    839621  NM_146193.21  NP_666305.21 
     817920755 
    chicken
    (Gallus gallus)
    Aves BTBD11 BTB (POZ) domain containing 1 84.93(n)
    96.01(a)
      415461  NM_001005819.1  NP_001005819.1 
    lizard
    (Anolis carolinensis)
    Reptilia BTBD16
    BTB (POZ) domain containing 1
    89(a)
    1 ↔ 1
    GL343836.1(155601-166047)
    zebrafish
    (Danio rerio)
    Actinopterygii btbd26
    BTB (POZ) domain containing 2
    61(a)
    many ↔ many
    22(20477396-20484989) ENSDARG00000042091
    fruit fly
    (Drosophila melanogaster)
    Insecta CG170686
    --
    19(a)
    many ↔ many
    X(20119377-20122516)
    worm
    (Caenorhabditis elegans)
    Secernentea F38H4.73 BTB (also known as BR-C/Ttk) domain. 55(a)   IV(11851206-11855056)   --


    ENSEMBL Gene Tree for BTBD1 (if available)
    TreeFam Gene Tree for BTBD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BTBD1 gene
    BTBD22  BTBD62  BTBD192  BTBD32  BTBD92  
    4 SIMAP similar genes for BTBD1 using alignment to 3 protein entries:     BTBD1_HUMAN (see all proteins):
    BTBD2    BTBD3    DKFZp434B055    BTBD6

    Find genes that share paralogs with BTBD1           About GenesLikeMe



    (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 BTBD1 (see all 1011)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1906752701,2
    --63394063(+) TTTTAC/GAGAAT 2 -- us2k10--------
    rs1871379811,2
    --83684678(+) GATCAA/CGAAAC 2 -- ds50010--------
    rs1491182541,2
    C--83684762(+) ATTGCA/CTTACT 2 -- ds50010--------
    rs1421962851,2
    C--83684830(+) CAGGCA/GTGGTG 2 -- ds50010--------
    rs1115318291,2
    C,F--83684841(+) GCTCAC/TGCCTG 2 -- ds50013Minor allele frequency- T:0.06NA WA 240
    rs1511956261,2
    --83684895(+) GGAGTG/TCGAGA 2 -- ds50010--------
    rs1402911261,2
    C--83684915(+) CCAACA/GTAGTG 2 -- ds50010--------
    rs1137801231,2
    F--83685048(+) GAGCCG/AAGATT 2 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1144655741,2
    C,F--83685181(+) TTTTTT/ATATAT 2 -- ut311Minor allele frequency- A:0.07NA 120
    rs1833826671,2
    --83685197(+) TATATA/TTATTT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for BTBD1 (83685174 - 83736106 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BTBD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7269OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BTBD1
    DNA2.0 Custom Variant and Variant Library Synthesis for BTBD1

    (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.)
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    OMIM gene information: 608530    OMIM disorders: --

    3 diseases for BTBD1:    
    About MalaCards
    hepatitis c    hepatitis c virus    hepatitis


    Find genes that share disorders with BTBD1           About GenesLikeMe

    Genetic Association Database (GAD): BTBD1

    Export disorders for BTBD1 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 BTBD1 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with BTBD1)
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    1. Characterization of BTBD1 and BTBD2, two similar BTB-domain- containing Kelch-like proteins that interact with topoisomerase I. (PubMed id 11818025)1, 2, 9 Xu L....D'Arpa P. (BMC Genomics 2002)
    2. Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24. (PubMed id 11179693)1, 2, 9 Carim-Todd L.... Escarceller M. (Gene 2001)
    3. BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta. (PubMed id 12878161)1, 2, 9 Xu L.... D'Arpa P. (Exp. Cell Res. 2003)
    4. Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study. (PubMed id 21326860)1, 4 Tsai F.J....Wu J.Y. (PLoS ONE 2011)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    8. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 53339 HGNC: 1120 AceView: BTBD1 Ensembl:ENSG00000064726 euGenes: HUgn53339
    ECgene: BTBD1 H-InvDB: BTBD1

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for BTBD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BTBD1 gene:
    Search GeneIP for patents involving BTBD1

    GeneCards and IP:
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