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    TAF1B TATA-box binding protein associated factor, RNA polymerase I subunit B [ Homo sapiens (human) ]

    Gene ID: 9014, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TAF1Bprovided by HGNC
    Official Full Name
    TATA-box binding protein associated factor, RNA polymerase I subunit Bprovided by HGNC
    Primary source
    HGNC:HGNC:11533
    See related
    Ensembl:ENSG00000115750 MIM:604904; AllianceGenome:HGNC:11533
    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
    SL1; RAF1B; RAFI63; TAFI63; MGC:9349
    Summary
    Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in testis (RPKM 5.9), placenta (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TAF1B in Genome Data Viewer
    Location:
    2p25.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (9843442..9934416)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (9871368..9962349)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (9983571..10074545)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100996549 Neighboring gene Sharpr-MPRA regulatory region 12215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9905902-9906452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9910317-9911245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9911246-9912173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:9939945-9940780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9940781-9941616 Neighboring gene uncharacterized LOC105373421 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:9949571-9950071 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:9959896-9961095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:9970201-9970740 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:9974742-9974950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10057557-10058058 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:10073172-10073377 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:10078385-10078724 Neighboring gene uncharacterized LOC105373422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10080877-10081377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11149 Neighboring gene grainyhead like transcription factor 1 Neighboring gene uncharacterized LOC124905970

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AEP coactivator complex facilitates the initiation of RNAP2-dependent transcription via SL1 activity by loading TBP onto the TATA element.
      Title: AF4 uses the SL1 components of RNAP1 machinery to initiate MLL fusion- and AEP-dependent transcription.
    2. hCdc14B promotes reactivation of rDNA transcription by dephosphorylating TAFI110. SIRT1 becomes transiently enriched in nucleoli at the onset of mitosis. SIRT1 deacetylates TAFI68 destabilizing SL1 binding to the rDNA promoter
      Title: Cooperative Action of Cdk1/cyclin B and SIRT1 Is Required for Mitotic Repression of rRNA Synthesis.
    3. TAF1B, a subunit of SL1, is structurally related to TFIIB/TFIIB-like proteins; SL1, essential for Pol I recruitment to rRNA gene promoter, also has an essential postpolymerase recruitment role, operating through TAF1B
      Title: TAF1B is a TFIIB-like component of the basal transcription machinery for RNA polymerase I.
    4. findings show that Rrn7, a subunit of the yeast Pol I core factor, and its human ortholog TAF1B are TFIIB-like factors
      Title: Yeast Rrn7 and human TAF1B are TFIIB-related RNA polymerase I general transcription factors.
    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. The four most frequently mutated genes in colorectal cancers with microsatellite instability were ACVR2 (92%), TAF1B (84%), ASTE1/HT001 (80%) and TGFBR2 (77%).
      Title: Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations.
    7. Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with microsatellite instability.
      Title: Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with microsatellite instability.
    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

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    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)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase I core promoter sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase I core promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables TBP-class protein binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in RNA polymerase I preinitiation complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nucleolar large rRNA transcription by RNA polymerase I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of RNA polymerase I core factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of RNA polymerase I core factor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of RNA polymerase transcription factor SL1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of RNA polymerase transcription factor SL1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TATA box-binding protein-associated factor RNA polymerase I subunit B
    Names
    RNA polymerase I-specific TBP-associated factor 63 kDa
    SL1, 63kD subunit
    TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD
    TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa
    TATA box-binding protein-associated factor 1B
    TATA-box binding protein associated factor, RNA polymerase I, B
    TBP-associated factor 1B
    transcription initiation factor SL1/TIF-IB subunit B

    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.

    mRNA and Protein(s)

    1. NM_001318976.1 → NP_001305905.1  TATA box-binding protein-associated factor RNA polymerase I subunit B isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AA746267, AC010969, AK295402, AK308070, DA910748
      UniProtKB/Swiss-Prot
      Q53T94

    2. NM_001318977.1 → NP_001305906.1  TATA box-binding protein-associated factor RNA polymerase I subunit B isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AA746267, AC010969, AK026521, AK308070, DA910748

    3. NM_005680.3 → NP_005671.3  TATA box-binding protein-associated factor RNA polymerase I subunit B isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC010969
      Consensus CDS
      CCDS33143.1
      UniProtKB/Swiss-Prot
      B4DI42, F8WD72, Q15574, Q53T94, Q8WVC3
      Related
      ENSP00000263663.4, ENST00000263663.10
      Conserved Domains (1) summary
      pfam11781
      Location:7 → 39
      zf-RRN7; Zinc-finger of RNA-polymerase I-specific TFIIB, Rrn7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      9843442..9934416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510410.3 → XP_011508712.1  TATA box-binding protein-associated factor RNA polymerase I subunit B isoform X1

      Conserved Domains (1) summary
      pfam11781
      Location:6 → 39
      RRN7; RNA polymerase I-specific transcription initiation factor Rrn7

    2. XM_047446254.1 → XP_047302210.1  TATA box-binding protein-associated factor RNA polymerase I subunit B isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      9871368..9962349
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344423.1 → XP_054200398.1  TATA box-binding protein-associated factor RNA polymerase I subunit B isoform X1

    2. XM_054344424.1 → XP_054200399.1  TATA box-binding protein-associated factor RNA polymerase I subunit B isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53T94.1 GenPept UniProtKB/Swiss-Prot:Q53T94

    Gene LinkOut

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