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

Gene ID: 138474, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (32629454..32635669, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (32645649..32651864, complement)
105.20220307 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. 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
  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. 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
  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 (23) 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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 RNA polymerase II general transcription initiation factor binding IEA
Inferred from Electronic Annotation
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
is_active_in cellular_component ND
No biological Data available
more info
  
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_2023_10

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

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Chemical Information
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