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

Gene ID: 9014, updated on 11-Apr-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
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Genomic context

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Location:
2p25.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (9843442..9934416)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (9871368..9962349)
105.20220307 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
  • 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. Thanatos-associated protein 7 associates with template activating factor-Ibeta and inhibits histone acetylation to repress transcription. Macfarlan T, et al. Mol Endocrinol, 2006 Feb. PMID 16195249
  2. Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with microsatellite instability. Kim NG, et al. Oncogene, 2002 Aug 1. PMID 12140758
  3. Genomic localization of the human genes TAF1A, TAF1B and TAF1C, encoding TAF(I)48, TAF(I)63 and TAF(I)110 subunits of class I general transcription initiation factor SL1. Di Pietro C, et al. Cytogenet Cell Genet, 2000. PMID 10894955
  4. The identification of a novel role for BRCA1 in regulating RNA polymerase I transcription. Johnston R, et al. Oncotarget, 2016 Oct 18. PMID 27589844, Free PMC Article
  5. AF4 uses the SL1 components of RNAP1 machinery to initiate MLL fusion- and AEP-dependent transcription. Okuda H, et al. Nat Commun, 2015 Nov 23. PMID 26593443, Free PMC Article

See all (56) citations in PubMed

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)

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

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_2023_10

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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