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    TAF8 TATA-box binding protein associated factor 8 [ Homo sapiens (human) ]

    Gene ID: 129685, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TAF8provided by HGNC
    Official Full Name
    TATA-box binding protein associated factor 8provided by HGNC
    Primary source
    HGNC:HGNC:17300
    See related
    Ensembl:ENSG00000137413 MIM:609514; AllianceGenome:HGNC:17300
    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
    II; TAF; TBN; NEDMLHB; TAFII43; TAFII-43; TAF(II)43
    Summary
    This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.7), lymph node (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TAF8 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42050524..42087462)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41878783..41915706)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42018262..42055200)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:41884515-41885714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41892998-41893498 Neighboring gene mediator complex subunit 20 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41906017-41906832 Neighboring gene bystin like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41906833-41907648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41908777-41909728 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:41928638-41928835 Neighboring gene cyclin D3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:41932711-41933221 Neighboring gene uncharacterized LOC105375059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41976875-41977831 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41977832-41978787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41984389-41984890 Neighboring gene Sharpr-MPRA regulatory regions 12575 and 14060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24534 Neighboring gene RNA, U6 small nuclear 761, pseudogene Neighboring gene skeletal muscle cis-regulatory module in CCND3 intron Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42007359-42007580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42011196-42011696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24537 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:42013050-42013640 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:42013641-42014230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17197 Neighboring gene H3K27ac hESC enhancers GRCh37_chr6:42017885-42018436 and GRCh37_chr6:42018437-42018988 Neighboring gene Sharpr-MPRA regulatory region 7068 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42067953-42068174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17200 Neighboring gene chromosome 6 open reading frame 132 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42104000-42104697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42108933-42109612 Neighboring gene GUCA1ANB-GUCA1A readthrough Neighboring gene ciliary microtubule inner protein 3

    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. Genomics and transcription analysis of human TFIID. Purrello M, et al. Oncogene, 1998 Mar 26. PMID 9569032
    2. Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription. El-Saafin F, et al. Hum Mol Genet, 2018 Jun 15. PMID 29648665, Free PMC Article
    3. Cytoplasmic TAF2-TAF8-TAF10 complex provides evidence for nuclear holo-TFIID assembly from preformed submodules. Trowitzsch S, et al. Nat Commun, 2015 Jan 14. PMID 25586196, Free PMC Article
    4. TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival. Scheer E, et al. J Biol Chem, 2021 Nov. PMID 34634302, Free PMC Article
    5. The architecture of human general transcription factor TFIID core complex. Bieniossek C, et al. Nature, 2013 Jan 31. PMID 23292512

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival.
      Title: TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival.
    2. TAF8 mutant protein with an unrelated C-terminus. The mutant TAF8 protein could not be detected in extracts from the patient's fibroblasts, indicating a loss of TAF8 function and that the mutation is most likely causative
      Title: Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
    3. the TAF2-TAF8-TAF10 complex demonstrates that there is a stepwise assembly pathway of nuclear holo-TFIID, regulated by nuclear import of preformed cytoplasmic submodules
      Title: Cytoplasmic TAF2-TAF8-TAF10 complex provides evidence for nuclear holo-TFIID assembly from preformed submodules.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
    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

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
    MedGen: C5774185 OMIM: 619972 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • FLJ32821

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II general transcription initiation factor activity IC
    Inferred by Curator
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA-templated transcription open complex formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in RNA polymerase II preinitiation complex assembly IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in RNA polymerase II preinitiation complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner cell mass cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in maintenance of protein location in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription initiation by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transcription initiation at RNA polymerase II promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus EXP
    Inferred from Experiment
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription factor TFIID complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription factor TFIID complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription factor TFIID complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of transcription factor TFIID complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    transcription initiation factor TFIID subunit 8
    Names
    TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa
    TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa
    TBP-associated factor 43 kDa
    TBP-associated factor 8
    TBP-associated factor TAFII43
    TBP-associated factor, RNA polymerase II, 43 kD
    hTAFII43
    protein taube nuss
    taube nuss homolog
    transcription initiation factor TFIID 43 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_001410906.1 → NP_001397835.1  transcription initiation factor TFIID subunit 8 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL512274, AL513008
      Consensus CDS
      CCDS93918.1
      UniProtKB/TrEMBL
      A0A8I5KVM3, A0A8I5QL44
      Related
      ENSP00000510786.1, ENST00000686229.1

    2. NM_001410907.1 → NP_001397836.1  transcription initiation factor TFIID subunit 8 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL512274, AL513008
      Consensus CDS
      CCDS93919.1
      UniProtKB/TrEMBL
      A0A8I5KVM3
      Related
      ENSP00000411900.2, ENST00000456846.6

    3. NM_138572.3 → NP_612639.2  transcription initiation factor TFIID subunit 8 isoform 1

      See identical proteins and their annotated locations for NP_612639.2

      Status: REVIEWED

      Source sequence(s)
      AF465841, AL512274, BI828714
      Consensus CDS
      CCDS43462.1
      UniProtKB/Swiss-Prot
      Q5T0K1, Q7Z7C8, Q8N4R9, Q96M52
      UniProtKB/TrEMBL
      A0A8I5KVM3
      Related
      ENSP00000362068.3, ENST00000372977.8
      Conserved Domains (2) summary
      cd08049
      Location:144 → 197
      TAF8; TATA Binding Protein (TBP) Associated Factor 8
      pfam07524
      Location:29 → 106
      Bromo_TP; Bromodomain associated

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      42050524..42087462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418177.1 → XP_047274133.1  transcription initiation factor TFIID subunit 8 isoform X2

    2. XM_047418174.1 → XP_047274130.1  transcription initiation factor TFIID subunit 8 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KVM3
      Related
      ENSP00000362073.4, ENST00000372982.8

    3. XM_047418178.1 → XP_047274134.1  transcription initiation factor TFIID subunit 8 isoform X4

    4. XM_017010245.2 → XP_016865734.1  transcription initiation factor TFIID subunit 8 isoform X5

      UniProtKB/TrEMBL
      A0A8I5KXI2
      Related
      ENSP00000510369.1, ENST00000687601.1

    5. XM_017010244.3 → XP_016865733.1  transcription initiation factor TFIID subunit 8 isoform X3

    6. XM_047418175.1 → XP_047274131.1  transcription initiation factor TFIID subunit 8 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KVM3
      Related
      ENSP00000417867.1, ENST00000494547.5

    7. XM_005248849.3 → XP_005248906.1  transcription initiation factor TFIID subunit 8 isoform X6

      UniProtKB/TrEMBL
      A0A0A0MRR3
      Related
      ENSP00000362069.3, ENST00000372978.7
      Conserved Domains (2) summary
      pfam07524
      Location:29 → 106
      Bromo_TP; Bromodomain associated
      pfam10406
      Location:145 → 163
      TAF8_C; Transcription factor TFIID complex subunit 8 C-term

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      41878783..41915706
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354207.1 → XP_054210182.1  transcription initiation factor TFIID subunit 8 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KVM3

    2. XM_054354211.1 → XP_054210186.1  transcription initiation factor TFIID subunit 8 isoform X4

    3. XM_054354212.1 → XP_054210187.1  transcription initiation factor TFIID subunit 8 isoform X5

      UniProtKB/TrEMBL
      A0A8I5KXI2

    4. XM_054354210.1 → XP_054210185.1  transcription initiation factor TFIID subunit 8 isoform X3

    5. XM_054354208.1 → XP_054210183.1  transcription initiation factor TFIID subunit 8 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KVM3

    6. XM_054354213.1 → XP_054210188.1  transcription initiation factor TFIID subunit 8 isoform X6

      UniProtKB/TrEMBL
      A0A0A0MRR3

    7. XM_054354209.1 → XP_054210184.1  transcription initiation factor TFIID subunit 8 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z7C8.1 GenPept UniProtKB/Swiss-Prot:Q7Z7C8

    Gene LinkOut

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

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