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    TAF1L TATA-box binding protein associated factor 1 like [ Homo sapiens (human) ]

    Gene ID: 138474, updated on 14-Nov-2024

    Summary

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    Official Symbol
    TAF1Lprovided by HGNC
    Official Full Name
    TATA-box binding protein associated factor 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:18056
    See related
    Ensembl:ENSG00000122728 MIM:607798; AllianceGenome:HGNC:18056
    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
    TAF2A2; TAF(II)210
    Summary
    This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interchangeably with the TAF1 product. [provided by RefSeq, Aug 2015]
    Orthologs
    all
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    Genomic context

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    See TAF1L in Genome Data Viewer
    Location:
    9p21.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (32629454..32635669, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (32645649..32651864, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (32629452..32635667, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 27 Neighboring gene NADH:ubiquinone oxidoreductase subunit B6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28266 Neighboring gene DNA fragmentation factor subunit beta pseudogene 1 Neighboring gene uncharacterized LOC105376015 Neighboring gene uncharacterized LOC105376017 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 1 Neighboring gene ribosomal protein S11 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Whole transcriptome sequencing identifies tumor-specific mutations in human oral squamous cell carcinoma. Zhang Q, et al. BMC Med Genomics, 2013 Sep 4. PMID 24007313, Free PMC Article
    2. A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance. Xia J, et al. Mol Cancer Ther, 2014 Jul. PMID 24755198, Free PMC Article
    3. TAF1L promotes development of oral squamous cell carcinoma via decreasing autophagy-dependent apoptosis. Wang D, et al. Int J Biol Sci, 2020. PMID 32174793, Free PMC Article
    4. Frameshift Mutations in the Mononucleotide Repeats of TAF1 and TAF1L Genes in Gastric and Colorectal Cancers with Regional Heterogeneity. Oh HR, et al. Pathol Oncol Res, 2017 Jan. PMID 27571988
    5. Functional substitution for TAF(II)250 by a retroposed homolog that is expressed in human spermatogenesis. Wang PJ, et al. Hum Mol Genet, 2002 Sep 15. PMID 12217962

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TAF1L promotes development of oral squamous cell carcinoma via decreasing autophagy-dependent apoptosis.
      Title: TAF1L promotes development of oral squamous cell carcinoma via decreasing autophagy-dependent apoptosis.
    2. TAF1 and TAF1L genes harbored not only somatic mutations but also mutational ITH.
      Title: Frameshift Mutations in the Mononucleotide Repeats of TAF1 and TAF1L Genes in Gastric and Colorectal Cancers with Regional Heterogeneity.
    3. Arose by retroposition of a processed TAF(II)250 mRNA during primate evolution, replaces its function only in male meiosis.
      Title: Functional substitution for TAF(II)250 by a retroposed homolog that is expressed in human spermatogenesis.
    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
    A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC134910

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II general transcription initiation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables TBP-class protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables TBP-class protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables histone acetyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables lysine-acetylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA polymerase II preinitiation complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male meiotic nuclear division IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of transcription factor TFIID complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transcription initiation factor TFIID subunit 1-like
    Names
    TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like
    TBP-associated factor 1-like
    TBP-associated factor 210 kDa
    TBP-associated factor RNA polymerase 1-like
    transcription initiation factor TFIID 210 kDa subunit

    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_153809.2 → NP_722516.1  transcription initiation factor TFIID subunit 1-like

      See identical proteins and their annotated locations for NP_722516.1

      Status: REVIEWED

      Source sequence(s)
      AF390562
      Consensus CDS
      CCDS35003.1
      UniProtKB/Swiss-Prot
      Q0VG57, Q8IZX4
      UniProtKB/TrEMBL
      A0A804HK58
      Related
      ENSP00000418379.1, ENST00000242310.4
      Conserved Domains (5) summary
      cd05511
      Location:1526 → 1638
      Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...
      pfam09247
      Location:34 → 85
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:584 → 1046
      DUF3591; Protein of unknown function (DUF3591)
      pfam15288
      Location:1280 → 1315
      zf-CCHC_6; Zinc knuckle
      cl22451
      Location:1713 → 1798
      ASF1_hist_chap; ASF1 like histone chaperone

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      32629454..32635669 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      32645649..32651864 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZX4.1 GenPept UniProtKB/Swiss-Prot:Q8IZX4

    Gene LinkOut

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

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