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

BDP1 Gene

protein-coding   GIFtS: 54
GCID: GC05P070787

B Double Prime 1, Subunit Of RNA Polymerase III Transcription...

(Previous names: TATA box binding protein (TBP)-associated factor, RNA polymerase...)
(Previous symbols: TFNR, TAF3B1)
  Search for BDP1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
B Double Prime 1, Subunit Of RNA Polymerase III Transcription
Initiation Factor IIIB1 2
     TFC52
TFNR1 2 3 5     TFIIIB''2
TAF3B11 2     TFIIIB902
TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase III,
GTF3B Subunit 11 2
     RNA Polymerase III Transcription Initiation Factor B''2
Transcription Factor IIIB 1502 3     Transcription Factor TFIIIB Component B'' Homolog2
Transcription Factor-Like Nuclear Regulator2 3     KIAA12413
TFIIIB1502 3     KIAA16893
HSA2385202     

External Ids:    HGNC: 136521   Entrez Gene: 558142   Ensembl: ENSG000001457347   OMIM: 6070125   UniProtKB: A6H8Y13   

Export aliases for BDP1 gene to outside databases

Previous GC identifers: GC05P069557 GC05P070984 GC05P070790 GC05P070835 GC05P065957


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

Entrez Gene summary for BDP1 Gene:
The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA
polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to
concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III
promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and
suppression of polymerase III transcription. (provided by RefSeq, Jul 2008)

GeneCards Summary for BDP1 Gene: 
BDP1 (B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB) is a protein-coding gene. Among its related super-pathways are RNA Polymerase III Transcription Initiation and Transcription of tRNA. GO annotations related to this gene include chromatin binding and DNA binding.

UniProtKB/Swiss-Prot: BDP1_HUMAN, A6H8Y1
Function: General activator of RNA polymerase III transcription. Requires for transcription from all three types
of polymerase III promoters. Requires for transcription of genes with internal promoter elements and with
promoter elements upstream of the initiation site

Gene Wiki entry for BDP1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006713.15  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BDP1 gene promoter:
         NF-1   NF-1/L   C/EBPbeta   GATA-3   CUTL1   GATA-1   GATA-2   GATA-6   HFH-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBDP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BDP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BDP1


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

Entrez Gene cytogenetic band: 5q13   Ensembl cytogenetic band:  5q13.2   HGNC cytogenetic band: 5q12-q13

BDP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BDP1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P070787:  view genomic region     (about GC identifiers)

Start:
70,751,442 bp from pter      End:
70,863,649 bp from pter
Size:
112,208 bases      Orientation:
plus strand

1 alternative location:
Chr5+,NW_003315917.2 1,454,100-1,566,307     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BDP1_HUMAN, A6H8Y1 (See protein sequence)
Recommended Name: Transcription factor TFIIIB component B'' homolog  
Size: 2624 amino acids; 293885 Da
Subunit: Component of TFIIIB complex. The TFIIIB complex has two activities, alpha and beta. The TFIIIB-alpha and
TFIIIB-beta activities are required for transcription of genes with TFIIIC-bound internal promoters and PSE
transcription factor-bound external promoters, respectively. The TFIIIB-alpha activity complex is composed of
TBP, BDP1, and a complex containing both BRF2 and at least four stably associated proteins; YY1 facilitates the
formation of TFIIIB-alpha activity complex. The TFIIIB-beta activity complex is composed of TBP, BDP1, and BRF1.
Interacts with BRF1; this interaction diminishes during mitosis resulting in the release of BDP1 from chromosomal
templates. Component of TFIIIC complex. The TFIIIC complex has two activities, C1 and C2. The TFIIIC2 activity
complex is only required for transcription of the 'classical' pol III genes whereas the TFIIIC1 activity complex
is required for transcription of all pol III genes. The TFIIIC1 activity complex is composed at least of BDP1.
Interacts with ZBTB43
Subcellular location: Nucleus
Sequence caution: Sequence=AAG09268.1; Type=Frameshift; Positions=837, 863; Sequence=AAH32146.1;
Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA86555.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB21780.3; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=CAH18085.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: Q68DS6 Q68DY5 Q6MZL9 Q6PIM7 Q86W98 Q96LR8 Q9C0H4 Q9H197 Q9H1A1 Q9HAW1
Q9HAW2 Q9HCY0 Q9ULH9
Alternative splicing: 8 isoforms:  A6H8Y1-1   A6H8Y1-2   A6H8Y1-3   A6H8Y1-4   A6H8Y1-5   A6H8Y1-6   A6H8Y1-7   A6H8Y1-8   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BDP1: NX_A6H8Y1

Explore proteomics data for BDP1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by CSNK2A1 during mitosis, resulting in its release from chromatin and suppression of polymerase
    III transcription
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6H8Y1

  • BDP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BDP1 Protein Expression
    REFSEQ proteins: NP_060899.2  
    ENSEMBL proteins: 
     ENSP00000351575   ENSP00000421910   ENSP00000432404   ENSP00000370050  
    Reactome Protein details: A6H8Y1
    Human Recombinant Protein Products for BDP1: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--

    BDP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR001005 SANT/Myb
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry A6H8Y1

    ProtoNet protein and cluster: A6H8Y1

    UniProtKB/Swiss-Prot: BDP1_HUMAN, A6H8Y1
    Similarity: Contains 1 Myb-like domain


    BDP1 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BDP1_HUMAN, A6H8Y1
    Function: General activator of RNA polymerase III transcription. Requires for transcription from all three types
    of polymerase III promoters. Requires for transcription of genes with internal promoter elements and with
    promoter elements upstream of the initiation site
    Induction: By Epstein-Barr virus (EBV) resulting in the stimulation of the EBV EBER genes

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
         
    BDP1 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for BDP1:
     Decreased G3BP1 protein expres  Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 
     Decreased viability of wild-ty  Increased circadian period len 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for BDP1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BDP1 
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    miRNA
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    hsa-miR-607 hsa-miR-429 hsa-miR-30d hsa-miR-4275 hsa-miR-183* hsa-miR-30a hsa-miR-3908 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidBDP1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BDP1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BDP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation0.80
    RNA Polymerase III Transcription Initiation From Type 1 Promoter0.77
    RNA Polymerase III Transcription0.80
    RNA Polymerase III Transcription Initiation From Type 2 Promoter0.74
    RNA Polymerase III Abortive And Retractive Initiation0.80
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.59
    RNA Polymerase III Transcription Initiation From Type 3 Promoter0.80
    2Assembly of RNA Polymerase-III Initiation Complex
    Assembly of RNA Polymerase-III Initiation Complex0.83
    Transcription of tRNA0.83
    3Transcription
    Transcription0.69
    4Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BDP1
        Transcription of tRNA
    Assembly of RNA Polymerase-III Initiation Complex

    5/9        Reactome Pathways for BDP1 (see all 9)
        RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation From Type 3 Promoter
    Transcription
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription
    RNA Polymerase III Abortive And Retractive Initiation



    BDP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BDP1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for BDP1 (A6H8Y13 ENSP000003515754) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZBTB43O432983, ENSP000003625564I2D: score=1 STRING: ENSP00000362556
    CSNK2A1P684003, ENSP000002172444I2D: score=1 STRING: ENSP00000217244
    RB1P064003, ENSP000002671634I2D: score=2 STRING: ENSP00000267163
    POLR3FQ9H1D93, ENSP000003668284I2D: score=1 STRING: ENSP00000366828
    CDC42P609533I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006383transcription from RNA polymerase III promoter TAS--
    GO:0010467gene expression TAS--

    BDP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 BDP1

    Search CenterWatch for drugs/clinical trials and news about BDP1

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BDP1 gene: 
    NM_018429.2  

    Unigene Cluster for BDP1:

    B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
    Hs.258272  [show with all ESTs]
    Unigene Representative Sequence: NM_018429
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358731(uc003kbp.1) ENST00000508917(uc003kbo.3) ENST00000508157
    ENST00000514903(uc003kbq.1) ENST00000525844(uc003kbr.1) ENST00000380675(uc003kbn.1)

    miRNA
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    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate BDP1 (see all 37):
    hsa-miR-607 hsa-miR-429 hsa-miR-30d hsa-miR-4275 hsa-miR-183* hsa-miR-30a hsa-miR-3908 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidBDP1 3' UTR sequence
    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BDP1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BDP1

    Additional mRNA sequence: 

    AB051476.3 AF176695.1 AF298151.1 AF298152.1 AK057871.1 BC032146.2 BC146792.1 BC161615.1 
    Z70700.1 

    13 DOTS entries:

    DT.422467  DT.100646719  DT.100749586  DT.120797561  DT.95269412  DT.100749584  DT.100754218  DT.40298229 
    DT.95358543  DT.120797559  DT.91746370  DT.446388  DT.95237476 

    24/161 AceView cDNA sequences (see all 161):

    AW051603 AI435358 AA322382 BG943768 AK057871 CA444278 BG435085 BM456476 
    BE910660 AI537645 BG944104 BG944382 BP340596 BQ022718 AI357776 BM677913 
    AB051476 BG942596 BG943186 AA278743 BX281384 BG941876 BE504177 BP347992 

    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™, 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

    BDP1 expression in normal human tissues (normalized intensities)      BDP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATTTATAA
    BDP1 Expression
    About this image


    BDP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Hair (Integumentary System)
             mouse/organ system/integumental system   

    See BDP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BDP1

    SOURCE GeneReport for Unigene cluster: Hs.258272

    UniProtKB/Swiss-Prot: BDP1_HUMAN, A6H8Y1
    Tissue specificity: Isoform 2 is highly expressed in cerebellum

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BDP1

    (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 and fungi.

    Orthologs for BDP1 gene from 8/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bdp11 , 5 B double prime 1, subunit of RNA polymerase III transcription more1, 5 68.24(n)1
    53.91(a)1
      13 (52.92 cM)5
    5449711  NM_001081061.11  NP_001074530.11 
     1000179945 
    chicken
    (Gallus gallus)
    Aves BDP16
    B double prime 1, subunit of RNA polymerase III tr...
    57(a)
    1 ↔ 1
    Z(72869764-72888075)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    53(a)
    29(a)
    possible ortholog
    possible ortholog
    2(16853701-16870970)
    2(16811966-16842745)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.43712 Transcribed sequence with weak similarity to protein more 77.75(n)    BG512774.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.172092 Transcribed sequence with weak similarity to protein more 79.06(n)    BI877954.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG93056
    --
    21(a)
    1 ↔ 1
    2L(13371427-13373853)
    worm
    (Caenorhabditis elegans)
    Secernentea B0261.16
    Protein B0261.1
    22(a)
    1 ↔ 1
    I(5263694-5268384)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BDP1(YNL039W)4 Essential subunit of RNA polymerase III transcription more   --   14(555048-556832) 855689  NP_014359.1 


    ENSEMBL Gene Tree for BDP1 (if available)
    TreeFam Gene Tree for BDP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BDP1 gene

    BDP1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BDP1
    PGOHUM00000234964


    (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) 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

    10/2484 SNPs in BDP1 are shown (see all 2484)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2019346691,2
    Cuntested170806005(+) GGTGAC/TTGATG 2 T I mis10--------
    rs1867748661,2
    --70749512(+) TTAGAA/GATATA 1 -- us2k10--------
    rs1470658051,2
    --70749606(+) TTTCTG/TCAGTC 1 -- us2k10--------
    rs1912714051,2
    --70749703(+) CAGGCC/TTTTGT 1 -- us2k10--------
    rs77323611,2
    C,F,A,H--70749745(+) GTTCAA/CACATT 1 -- us2k122Minor allele frequency- C:0.37NS EA NA WA 2476
    rs1832060991,2
    --70749852(+) ACTTTC/TTATCA 1 -- us2k10--------
    rs2003836751,2
    C--70749880(+) CTCTC-/TTTTTT 1 -- us2k10--------
    rs1156475631,2
    F--70749991(+) CCTGCC/TTCAGC 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1382640801,2
    C--70750153(+) TAGGCA/GTGCCT 1 -- us2k10--------
    rs98853341,2
    C,F,A,H--70750188(+) AAATTT/GATTTC 1 -- us2k120Minor allele frequency- G:0.34NS EA NA WA CSA 2340

    HapMap Linkage Disequilibrium report for BDP1 (70751442 - 70863649 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for BDP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1360871CNV Deletion17803354
    nsv830340CNV Loss17160897
    nsv882176CNV Loss21882294
    dgv6179n71CNV Loss21882294
    nsv528571CNV Loss19592680
    dgv6086n71CNV Gain21882294
    nsv428117CNV Gain+Loss18775914
    dgv1806e1CNV Complex17122850
    dgv1810e1CNV Complex17122850

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

    BDP1 for disorders           About MalaCards
    OMIM gene information: 607012    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for BDP1:
    Retinoblastoma

    BDP1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BDP1
    Human Genome Epidemiology (HuGE) Navigator: BDP1 (1 document)

    Export disorders for BDP1 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)
    About This Section

    PubMed articles for BDP1 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with BDP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Different human TFIIIB activities direct RNA polymerase III transcription from TATA-containing and TATA-less promoters. (PubMed id 11040218)1, 2, 3 Schramm L.... Hernandez N. (2000)
    2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2, 3 Nagase T.... Ohara O. (2000)
    3. The transcription factor-like nuclear regulator (TFNR) contains a novel 55-amino-acid motif repeated nine times and maps closely to SMN1. (PubMed id 11161782)1, 2, 9 Kelter A.R.... Wirth B. (2000)
    4. Transcription factor (TF)-like nuclear regulator, the 250-kDa form of Homo sapiens TFIIIB', is an essential component of human TFIIIC1 activity. (PubMed id 15096501)1, 2, 9 Weser S....Meissner W. (2004)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. The zinc finger protein ZNF297B interacts with BDP1, a subunit of TFIIIB. (PubMed id 16542149)1, 2 Schoenen F. and Wirth B. (2006)
    7. CK2 phosphorylation of Bdp1 executes cell cycle-specific RNA polymerase III transcription repression. (PubMed id 15469824)1, 2 Hu P....Hernandez N. (2004)
    8. TFIIIB is phosphorylated, disrupted and selectively released from tRNA promoters during mitosis in vivo. (PubMed id 14592981)1, 2 Fairley J.A....White R.J. (2003)
    9. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (1999)
    10. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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      (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
    Entrez Gene: 55814 HGNC: 13652 AceView: BDP1 Ensembl:ENSG00000145734 euGenes: HUgn55814
    ECgene: BDP1 H-InvDB: BDP1

    (According to HUGE)
    About This Section
    HUGE: KIAA1689 KIAA1241

    (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 BDP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BDP1 gene:
    Search GeneIP for patents involving BDP1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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