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    BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB [ Homo sapiens (human) ]

    Gene ID: 55814, updated on 7-Apr-2024

    Summary

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    Official Symbol
    BDP1provided by HGNC
    Official Full Name
    B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIBprovided by HGNC
    Primary source
    HGNC:HGNC:13652
    See related
    Ensembl:ENSG00000145734 MIM:607012; AllianceGenome:HGNC:13652
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TFC5; TFNR; TAF3B1; DFNB112; TFIIIB''; TFIIIB90; HSA238520; TFIIIB150
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.4), lymph node (RPKM 4.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BDP1 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (71455651..71578288)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (71936967..72059628)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70751478..70863647)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2197 Neighboring gene uncharacterized LOC105379025 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:70694085-70694716 Neighboring gene pro-melanin concentrating hormone like 2 (pseudogene) Neighboring gene uncharacterized LOC107987420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70750413-70751339 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70751340-70752265 Neighboring gene sterol carrier protein 2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 10712 Neighboring gene MPRA-validated peak5278 silencer Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 12 Neighboring gene uncharacterized LOC124900999 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70882826-70883612 Neighboring gene methylcrotonyl-CoA carboxylase subunit 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. DNA origami-based single-molecule force spectroscopy elucidates RNA Polymerase III pre-initiation complex stability. Kramm K, et al. Nat Commun, 2020 Jun 5. PMID 32504003, Free PMC Article
    2. Transcription factor (TF)-like nuclear regulator, the 250-kDa form of Homo sapiens TFIIIB", is an essential component of human TFIIIC1 activity. Weser S, et al. J Biol Chem, 2004 Jun 25. PMID 15096501
    3. TFIIIB is phosphorylated, disrupted and selectively released from tRNA promoters during mitosis in vivo. Fairley JA, et al. EMBO J, 2003 Nov 3. PMID 14592981, Free PMC Article
    4. Somatic mutations of cancer-related genes PELP1 and BDP1 in colorectal cancers. Son HJ, et al. Pathol Res Pract, 2020 Oct. PMID 32853945
    5. Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. Girotto G, et al. PLoS One, 2013. PMID 24312468, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Somatic mutations of cancer-related genes PELP1 and BDP1 in colorectal cancers.
      Title: Somatic mutations of cancer-related genes PELP1 and BDP1 in colorectal cancers.
    2. DNA origami-based single-molecule force spectroscopy elucidates RNA Polymerase III pre-initiation complex stability.
      Title: DNA origami-based single-molecule force spectroscopy elucidates RNA Polymerase III pre-initiation complex stability.
    3. Data indicate the crystal structure of a Brf2-TBP-Bdp1 complex bound to a DNA promoter.
      Title: Molecular mechanisms of Bdp1 in TFIIIB assembly and RNA polymerase III transcription initiation.
    4. Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
      Title: Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. PTEN represses RNA polymerase III-dependent transcription by targeting the TFIIIB complex
      Title: PTEN represses RNA polymerase III-dependent transcription by targeting the TFIIIB complex.
    7. Human BDP1 protein represents essential components of TFIIIC1 and TFIIIC1-like activities.
      Title: Transcription factor (TF)-like nuclear regulator, the 250-kDa form of Homo sapiens TFIIIB", is an essential component of human TFIIIC1 activity.
    8. Maf1 occupancy of Pol III genes is inversely correlated with that of the initiation factor TFIIIB (subunit Bdp1) and Pol III
      Title: Mammalian Maf1 is a negative regulator of transcription by all three nuclear RNA polymerases.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hearing loss, autosomal recessive 112
    MedGen: C4748855 OMIM: 618257 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1241, KIAA1689, DKFZp686K0831, DKFZp686C01233

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables TFIIIC-class transcription factor complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA polymerase III preinitiation complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of transcription factor TFIIIB complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transcription factor TFIIIB component B'' homolog
    Names
    RNA polymerase III transcription initiation factor B''
    TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1
    transcription factor IIIB 150
    transcription factor-like nuclear regulator

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047017.1 RefSeqGene

      Range
      5269..117438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018429.3 → NP_060899.2  transcription factor TFIIIB component B'' homolog

      See identical proteins and their annotated locations for NP_060899.2

      Status: REVIEWED

      Source sequence(s)
      AB051476, AC138832, AI537645, BP246483, BP347992
      Consensus CDS
      CCDS43328.1
      UniProtKB/Swiss-Prot
      A6H8Y1, Q68DS6, Q68DY5, Q6MZL9, Q6PIM7, Q86W98, Q96LR8, Q9C0H4, Q9H197, Q9H1A1, Q9HAW1, Q9HAW2, Q9HCY0, Q9ULH9
      UniProtKB/TrEMBL
      B1WB49
      Related
      ENSP00000351575.4, ENST00000358731.9
      Conserved Domains (1) summary
      pfam15963
      Location:297 → 380
      Myb_DNA-bind_7; Myb DNA-binding like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      71455651..71578288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009630.2 → XP_016865119.1  transcription factor TFIIIB component B'' homolog isoform X1

      UniProtKB/TrEMBL
      B1WB49

    2. XM_047417372.1 → XP_047273328.1  transcription factor TFIIIB component B'' homolog isoform X1

    3. XM_017009631.2 → XP_016865120.1  transcription factor TFIIIB component B'' homolog isoform X1

      UniProtKB/TrEMBL
      B1WB49

    4. XM_047417373.1 → XP_047273329.1  transcription factor TFIIIB component B'' homolog isoform X3

    5. XM_011543511.4 → XP_011541813.1  transcription factor TFIIIB component B'' homolog isoform X2

      See identical proteins and their annotated locations for XP_011541813.1

      UniProtKB/TrEMBL
      B1WB49
      Conserved Domains (1) summary
      pfam15963
      Location:297 → 380
      Myb_DNA-bind_7; Myb DNA-binding like

    6. XM_011543512.3 → XP_011541814.1  transcription factor TFIIIB component B'' homolog isoform X4

      See identical proteins and their annotated locations for XP_011541814.1

      UniProtKB/TrEMBL
      B1WB49
      Conserved Domains (1) summary
      pfam15963
      Location:297 → 380
      Myb_DNA-bind_7; Myb DNA-binding like

    7. XM_047417374.1 → XP_047273330.1  transcription factor TFIIIB component B'' homolog isoform X5

      Related
      ENST00000508917.6

    8. XM_047417375.1 → XP_047273331.1  transcription factor TFIIIB component B'' homolog isoform X6

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791777.1 Reference GRCh38.p14 PATCHES

      Range
      1942759..2065430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443308.1 → XP_047299264.1  transcription factor TFIIIB component B'' homolog isoform X1

    2. XM_047443310.1 → XP_047299266.1  transcription factor TFIIIB component B'' homolog isoform X1

    3. XM_047443309.1 → XP_047299265.1  transcription factor TFIIIB component B'' homolog isoform X1

    4. XM_047443312.1 → XP_047299268.1  transcription factor TFIIIB component B'' homolog isoform X3

    5. XM_047443307.1 → XP_047299263.1  transcription factor TFIIIB component B'' homolog isoform X7

      UniProtKB/TrEMBL
      A0A0G2JNU3

    6. XM_047443311.1 → XP_047299267.1  transcription factor TFIIIB component B'' homolog isoform X2

    7. XM_047443313.1 → XP_047299269.1  transcription factor TFIIIB component B'' homolog isoform X4

    8. XM_047443314.1 → XP_047299270.1  transcription factor TFIIIB component B'' homolog isoform X5

    9. XM_047443315.1 → XP_047299271.1  transcription factor TFIIIB component B'' homolog isoform X6

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1454136..1576773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329522.1 → XP_054185497.1  transcription factor TFIIIB component B'' homolog isoform X1

    2. XM_054329524.1 → XP_054185499.1  transcription factor TFIIIB component B'' homolog isoform X1

    3. XM_054329523.1 → XP_054185498.1  transcription factor TFIIIB component B'' homolog isoform X1

    4. XM_054329526.1 → XP_054185501.1  transcription factor TFIIIB component B'' homolog isoform X3

    5. XM_054329525.1 → XP_054185500.1  transcription factor TFIIIB component B'' homolog isoform X2

    6. XM_054329527.1 → XP_054185502.1  transcription factor TFIIIB component B'' homolog isoform X4

    7. XM_054329528.1 → XP_054185503.1  transcription factor TFIIIB component B'' homolog isoform X5

    8. XM_054329529.1 → XP_054185504.1  transcription factor TFIIIB component B'' homolog isoform X6

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187651.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      985635..1108263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329954.1 → XP_054185929.1  transcription factor TFIIIB component B'' homolog isoform X1

    2. XM_054329956.1 → XP_054185931.1  transcription factor TFIIIB component B'' homolog isoform X1

    3. XM_054329955.1 → XP_054185930.1  transcription factor TFIIIB component B'' homolog isoform X1

    4. XM_054329958.1 → XP_054185933.1  transcription factor TFIIIB component B'' homolog isoform X3

    5. XM_054329957.1 → XP_054185932.1  transcription factor TFIIIB component B'' homolog isoform X2

    6. XM_054329959.1 → XP_054185934.1  transcription factor TFIIIB component B'' homolog isoform X4

    7. XM_054329960.1 → XP_054185935.1  transcription factor TFIIIB component B'' homolog isoform X5

    8. XM_054329961.1 → XP_054185936.1  transcription factor TFIIIB component B'' homolog isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      71936967..72059628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352914.1 → XP_054208889.1  transcription factor TFIIIB component B'' homolog isoform X1

    2. XM_054352916.1 → XP_054208891.1  transcription factor TFIIIB component B'' homolog isoform X1

    3. XM_054352915.1 → XP_054208890.1  transcription factor TFIIIB component B'' homolog isoform X1

    4. XM_054352918.1 → XP_054208893.1  transcription factor TFIIIB component B'' homolog isoform X3

    5. XM_054352917.1 → XP_054208892.1  transcription factor TFIIIB component B'' homolog isoform X2

    6. XM_054352919.1 → XP_054208894.1  transcription factor TFIIIB component B'' homolog isoform X4

    7. XM_054352920.1 → XP_054208895.1  transcription factor TFIIIB component B'' homolog isoform X5

    8. XM_054352921.1 → XP_054208896.1  transcription factor TFIIIB component B'' homolog isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6H8Y1.3 GenPept UniProtKB/Swiss-Prot:A6H8Y1

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