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    TAF5L TATA-box binding protein associated factor 5 like [ Homo sapiens (human) ]

    Gene ID: 27097, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TAF5Lprovided by HGNC
    Official Full Name
    TATA-box binding protein associated factor 5 likeprovided by HGNC
    Primary source
    HGNC:HGNC:17304
    See related
    Ensembl:ENSG00000135801 AllianceGenome:HGNC:17304
    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
    PAF65B
    Summary
    The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 3.7), fat (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TAF5L in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (229593134..229626122, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (228972074..229005072, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (229728881..229761869, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily B member 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2704 Neighboring gene RNA, 5S ribosomal pseudogene 78 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:229730263-229730763 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:229759383-229759933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:229771551-229772052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:229772053-229772552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2707 Neighboring gene URB2 ribosome biogenesis homolog Neighboring gene KIAA1191 pseudogene 3

    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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    Related articles in PubMed

    1. The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients. Chistiakov DA, et al. Autoimmunity, 2005 Jun. PMID 16206511
    2. Muscle cell survival mediated by the transcriptional coactivators p300 and PCAF displays different requirements for acetyltransferase activity. Kuninger D, et al. Am J Physiol Cell Physiol, 2006 Oct. PMID 16672693
    3. Six lysine residues on c-Myc are direct substrates for acetylation by p300. Zhang K, et al. Biochem Biophys Res Commun, 2005 Oct 14. PMID 16126174
    4. PCAF modulates PTEN activity. Okumura K, et al. J Biol Chem, 2006 Sep 8. PMID 16829519
    5. Cooperative interactions between CBP and TORC2 confer selectivity to CREB target gene expression. Ravnskjaer K, et al. EMBO J, 2007 Jun 20. PMID 17476304, Free PMC Article

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients.
    2. latent cytoplasmic coactivator TORC2 mediates target gene activation in response to cAMP signaling by associating with CBP/p300 and increasing its recruitment to a subset of CREB target genes
      Title: Cooperative interactions between CBP and TORC2 confer selectivity to CREB target gene expression.
    3. The TAF5L gene on chromosome 1q42 is associated tie type 1 diabetes in Russian patients.
      Title: The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients.
    4. p300 can acetylate DNA-bound Myc:Max complexes and that acetylated Myc:Max heterodimers efficiently interact with Miz-1
      Title: Six lysine residues on c-Myc are direct substrates for acetylation by p300.
    5. p300 or PCAF maintains myoblast viability as effectively as added growth factors through mechanisms requiring the acetyltransferase activity of PCAF but not of p300.
      Title: Muscle cell survival mediated by the transcriptional coactivators p300 and PCAF displays different requirements for acetyltransferase activity.
    6. PCAF is a histone acetyltransferase which regulates gene transcription. PCAF interacts physically and functionally with PTEN. PTEN acetylation by PCAF block the ability of PTEN to downregulate PI3-K signalling and to induce G1 cell cycle arrest.
      Title: PCAF modulates PTEN activity.
    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
    Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of DNA repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of RNA splicing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of somatic stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SAGA complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of SAGA complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of SAGA complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT part_of transcription factor TFIID complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription factor TFTC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription factor TFTC complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription factor TFTC complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L
    Names
    PAF65-beta
    PCAF-associated factor 65 beta
    TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa

    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_001025247.2 → NP_001020418.1  TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform b

      See identical proteins and their annotated locations for NP_001020418.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (b) contains a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AF069736, AI251746, AL121990, BC041094
      Consensus CDS
      CCDS31051.1
      UniProtKB/Swiss-Prot
      O75529
      Related
      ENSP00000355635.3, ENST00000366675.3
      Conserved Domains (2) summary
      cd08044
      Location:67 → 201
      TAF5_NTD2; TAF5_NTD2 is the second conserved N-terminal region of TATA Binding Protein (TBP) Associated Factor 5 (TAF5), involved in forming Transcription Factor IID (TFIID)
      sd00039
      Location:272 → 304
      7WD40; WD40 repeat [structural motif]

    2. NM_014409.4 → NP_055224.1  TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform a

      See identical proteins and their annotated locations for NP_055224.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript, but encodes the longer isoform (a).
      Source sequence(s)
      AF069736, AI251746, AJ009770, AL121990, BC041094
      Consensus CDS
      CCDS1581.1
      UniProtKB/Swiss-Prot
      O75529, Q5TDI5, Q5TDI6, Q8IW31
      Related
      ENSP00000258281.2, ENST00000258281.7
      Conserved Domains (3) summary
      cd08044
      Location:67 → 201
      TAF5_NTD2; TAF5_NTD2 is the second conserved N-terminal region of TATA Binding Protein (TBP) Associated Factor 5 (TAF5), involved in forming Transcription Factor IID (TFIID)
      cd00200
      Location:276 → 581
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:273 → 340
      7WD40; WD40 repeat [structural motif]

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      229593134..229626122 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273099.5 → XP_005273156.1  TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X1

      See identical proteins and their annotated locations for XP_005273156.1

      UniProtKB/Swiss-Prot
      O75529, Q5TDI5, Q5TDI6, Q8IW31
      Conserved Domains (3) summary
      cd08044
      Location:67 → 201
      TAF5_NTD2; TAF5_NTD2 is the second conserved N-terminal region of TATA Binding Protein (TBP) Associated Factor 5 (TAF5), involved in forming Transcription Factor IID (TFIID)
      cd00200
      Location:276 → 581
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:273 → 340
      7WD40; WD40 repeat [structural motif]

    2. XM_047417997.1 → XP_047273953.1  TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X3

    3. XM_011544162.2 → XP_011542464.1  TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X2

      Conserved Domains (4) summary
      cd08044
      Location:13 → 130
      TAF5_NTD2; TAF5_NTD2 is the second conserved N-terminal region of TATA Binding Protein (TBP) Associated Factor 5 (TAF5), involved in forming Transcription Factor IID (TFIID)
      COG2319
      Location:183 → 485
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:205 → 510
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:202 → 269
      7WD40; WD40 repeat [structural motif]

    4. XM_047417996.1 → XP_047273952.1  TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X3

    5. XM_011544164.3 → XP_011542466.1  TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X3

      See identical proteins and their annotated locations for XP_011542466.1

      Conserved Domains (3) summary
      cd08044
      Location:2 → 109
      TAF5_NTD2; TAF5_NTD2 is the second conserved N-terminal region of TATA Binding Protein (TBP) Associated Factor 5 (TAF5), involved in forming Transcription Factor IID (TFIID)
      cd00200
      Location:184 → 489
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:181 → 248
      7WD40; WD40 repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      228972074..229005072 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336005.1 → XP_054191980.1  TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X1

      UniProtKB/Swiss-Prot
      O75529, Q5TDI5, Q5TDI6, Q8IW31

    2. XM_054336008.1 → XP_054191983.1  TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X3

    3. XM_054336006.1 → XP_054191981.1  TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X2

    4. XM_054336007.1 → XP_054191982.1  TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X3

    5. XM_054336009.1 → XP_054191984.1  TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75529.1 GenPept UniProtKB/Swiss-Prot:O75529

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