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    TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa [ Homo sapiens ]

    Gene ID: 8148, updated on 19-May-2012
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    Summary

    Official Symbol
    TAF15provided by HGNC
    Official Full Name
    TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDaprovided by HGNC
    Primary source
    HGNC:11547
    See related
    Ensembl:ENSG00000172660; HPRD:09031; MIM:601574
    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
    Npl3; RBP56; TAF2N; TAFII68
    Summary
    This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
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    Genomic context

    Location :
    17q11.1-q11.2
    Sequence :
    Chromosome: 17; NC_000017.10 (34136488..34174238)
    See TAF15 in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene chromosome 17 open reading frame 50 Neighboring gene matrix metallopeptidase 28 Neighboring gene chromosome 17 open reading frame 66 Neighboring gene chemokine (C-C motif) ligand 5

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Couthouis J, et al. Hum Mol Genet, 2012 Apr 6. PMID 22454397.
    2. A yeast functional screen predicts new candidate ALS disease genes. Couthouis J, et al. Proc Natl Acad Sci U S A, 2011 Dec 27. PMID 22065782.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    5. FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations. Neumann M, et al. Brain, 2011 Sep. PMID 21856723.

    See all (47) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Missense mutations of TAF-15, an RNA-binding protein, were found in patients with amyotrophic lateral sclerosis, and gene conferred neurodegeneration when expressend in Drosophila.
      Title: A yeast functional screen predicts new candidate ALS disease genes.
    2. REsults suggest the possibility that alterations of TAF15 and EWS might also be involved in the pathogenesis of FUS proteinopathies such as ALS and FTLD.
      Title: FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations.
    3. Rare translocation t(12;17)(p13;q12), this translocation has been reported in 25 cases and its putative molecular consequence, the formation of a TAF15-ZNF384 fusion gene, in only six cases.
      Title: Identification of the TAF15-ZNF384 fusion gene in two new cases of acute lymphoblastic leukemia with a t(12;17)(p13;q12).
    4. These results suggest that additional studies are needed to determine whether mutations in the TAF15 gene represent a cause of familial amyotrophic lateral sclerosis.
      Title: Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.
    5. Elevated TAF15 mRNA levels did not translate to strongly elevated protein levels, consistent with its infrequent occurrence as translocation partner in tumors.
      Title: mRNA and protein levels of FUS, EWSR1, and TAF15 are upregulated in liposarcoma.
    6. 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.
    7. Our findings define a role for a tumor-specific TAF15 antigen in malignant processes.
      Title: Diagnostic and therapeutic potential of a human antibody cloned from a cancer patient that binds to a tumor-specific variant of transcription factor TAF15.
    8. Data show that a fraction of human U1 snRNA specifically associates with the nuclear RNA-binding protein TBP-associated factor 15 (TAF15).
      Title: Human U1 snRNA forms a new chromatin-associated snRNP with TAF15.
    9. These results suggest that caspase-mediated degradation may represent a novel regulatory mechanism that controls TAF15 and TAF15-CIZ/NMP4 activities.
      Title: TAF15 and the leukemia-associated fusion protein TAF15-CIZ/NMP4 are cleaved by caspases-3 and -7.
    10. Data demonstrate that arginine methylation of TAF15 by PRMT1 is a crucial event determining its proper localization and gene regulatory function.
      Title: PRMT1 mediated methylation of TAF15 is required for its positive gene regulatory function.
    Submit: New GeneRIF Correction See all (14)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Chondrosarcoma, extraskeletal myxoid

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Tat tat Interaction of TFIID with the HIV-1 LTR, and therefore presumably HIV-1 Tat protein, is primarily dependent on the LTR TATA element and may also be stabilized or regulated by flanking E box motifs and basic helix-loop-helix proteins such as AP-4 and E47 PubMed
    tat A novel function of LBP-1, restricting HIV-1 transcription at the level of elongation by preventing the binding of TFIID to the promoter, is suppressed by HIV-1 Tat, indicating Tat helps recruit TFIID to the HIV-1 LTR PubMed
    tat HIV-1 Tat binds, through amino acids 36-50, directly to the TBP subunit of the TFIID holoenzyme complex (which includes at least TFIID subunits p250, p125, p70, TBP, and p30), and increases the interaction of TFIID with the HIV-1 LTR promoter PubMed
    tat TATA binding protein (TBP)-associated factors (TAFs) in the TFIID complex are required for activation by transcription factors, but are dispensable for HIV-1 Tat LTR transactivation function PubMed
    tat HIV-1 Tat stabilizes the interaction of TFIIA with TFIID, and TFIIA and TFIID are required to reconstitute Tat-specific and TAR-dependent activation of HIV transcription in vitro PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q92804 P19387 POLR2C    HPRD  PubMed  
    Q92804 P19388 POLR2E    HPRD  PubMed  
    Q92804 P62487 POLR2G    HPRD  PubMed  
    Q92804 Q15424 SAFB    HPRD  PubMed  
    Q92804 Q15637 SF1    HPRD  PubMed  
    Q92804 P21675 TAF1    HPRD  PubMed  
    Q92804 Q16514 TAF12    HPRD  PubMed  
    Q92804 Q15543 TAF13    HPRD  PubMed  
    Q92804 Q15542 TAF5    HPRD  PubMed  
    Q92804 Q15545 TAF7    HPRD  PubMed  
    Q92804 P61981 YWHAG    HPRD  PubMed  
    Q92804 Q8TF68 ZNF384    HPRD  PubMed  
    BioGRID:113807 BioGRID:107227 CACNA1A    BioGRID  PubMed Two-hybrid 
    BioGRID:113807 BioGRID:113946 HIST1H3A    BioGRID  PubMed Reconstituted Complex 
    BioGRID:113807 BioGRID:113934 HIST2H2AC    BioGRID  PubMed Reconstituted Complex 
    BioGRID:113807 BioGRID:113966 HIST2H4A    BioGRID  PubMed Reconstituted Complex 
    BioGRID:113807 BioGRID:114375 KAT2B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113807 BioGRID:204968 Mapk13    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113807 BioGRID:111426 POLR2A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113807 BioGRID:111428 POLR2C    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113807 BioGRID:111430 POLR2E    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113807 BioGRID:111432 POLR2G    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113807 BioGRID:109512 PRMT1    BioGRID  PubMed Biochemical Activity 
    BioGRID:113807 BioGRID:112201 SAFB    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:113807 BioGRID:113368 SF1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:113807 BioGRID:112745 TAF11    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113807 BioGRID:112747 TAF13    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113807 BioGRID:112740 TAF5    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113807 BioGRID:112742 TAF7    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113807 BioGRID:112771 TBP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113807 BioGRID:214052 Taf15    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113807 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113807 BioGRID:1205541 tat    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    positive regulation of transcription, DNA-dependent TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    intracellular IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    TATA-binding protein-associated factor 2N
    Names
    TATA-binding protein-associated factor 2N
    RBP56/CSMF fusion
    TBP-associated factor 15
    TATA box-binding protein-associated factor 2N (RNA-binding protein 56)
    TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)
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    NCBI Reference Sequences (RefSeq)

    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_023279.1 RefSeqGene

      Range
      4972..42759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003487.3 → NP_003478.1  TATA-binding protein-associated factor 2N isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1, that results in a shorter protein (isoform 2).
      Source sequence(s)
      AI351964, AK313223, BC039129, DB166653
      UniProtKB/Swiss-Prot
      Q92804
      Conserved Domains (2) summary
      cd00590
      Location:232 – 314
      Blast Score: 143
      RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...
      cl02656
      Location:353 – 379
      Blast Score: 98
      zf-RanBP; Zn-finger in Ran binding protein and others

    2. NM_139215.2 → NP_631961.1  TATA-binding protein-associated factor 2N isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI351964, AK314194, BC046099, BG403710, DB166653
      Consensus CDS
      CCDS32623.1
      UniProtKB/TrEMBL
      Q86X94
      UniProtKB/Swiss-Prot
      Q92804
      Related
      ENSP00000309558, ENST00000311979
      Conserved Domains (2) summary
      cd00590
      Location:235 – 317
      Blast Score: 143
      RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...
      cl02656
      Location:356 – 382
      Blast Score: 98
      zf-RanBP; Zn-finger in Ran binding protein and others

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p5 Primary Assembly

      Range
      34136488..34174238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      30321678..30359374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB010067.2 BAA33811.1
      BAA33812.1
    genomic AC015849.5 (72014..109764) None
    genomic AY197697.1 AAO13485.1
    genomic CH471147.2 EAW80124.1
      EAW80125.1
      EAW80126.1
      EAW80127.1
    mRNA AI351964.1 None
    mRNA AK304520.1 BAG65324.1
    mRNA AK307637.1 None
    mRNA AK313223.1 BAG36034.1
    mRNA AK314194.1 BAG36873.1
    mRNA BC030591.2 None
    mRNA BC039129.1 None
    mRNA BC046099.1 AAH46099.2
    mRNA BC048985.1 None
    mRNA BG403710.1 None
    mRNA DB166653.1 None
    mRNA U51334.1 AAC50932.1
    mRNA X98893.1 CAA67398.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86X94 GenPept UniProtKB/TrEMBL:Q86X94
    Q92804.1 GenPept UniProtKB/Swiss-Prot:Q92804
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

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