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Aliases for TAF6 Gene

Aliases for TAF6 Gene

  • TATA-Box Binding Protein Associated Factor 6 2 3 5
  • TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase II, E, 70/85kD 2 3
  • TAF6 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated Factor, 80kDa 2 3
  • Transcription Initiation Factor TFIID 70 KDa Subunit 3 4
  • RNA Polymerase II TBP-Associated Factor Subunit E 3 4
  • TAF(II)70 3 4
  • TAF(II)80 3 4
  • TAFII-70 3 4
  • TAFII-80 3 4
  • TAFII70 3 4
  • TAFII80 3 4
  • TAF2E 3 4
  • TAF6 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated Factor, 80 KD 2
  • Transcription Initiation Factor TFIID 80 KDa Subunit 4
  • Transcription Initiation Factor TFIID 70 KD Subunit 2
  • Transcription Initiation Factor TFIID Subunit 6 3
  • MGC:8964 3
  • TAFII85 3
  • ALYUS 3

External Ids for TAF6 Gene

Previous HGNC Symbols for TAF6 Gene

  • TAF2E

Previous GeneCards Identifiers for TAF6 Gene

  • GC07M098239
  • GC07M099302
  • GC07M099316
  • GC07M099351
  • GC07M099542
  • GC07M099704
  • GC07M094340

Summaries for TAF6 Gene

Entrez Gene Summary for TAF6 Gene

  • Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

GeneCards Summary for TAF6 Gene

TAF6 (TATA-Box Binding Protein Associated Factor 6) is a Protein Coding gene. Diseases associated with TAF6 include Alazami-Yuan Syndrome and Cornelia De Lange Syndrome 1. Among its related pathways are HIV Life Cycle and PEDF Induced Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and binding. An important paralog of this gene is TAF6L.

UniProtKB/Swiss-Prot for TAF6 Gene

  • TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TIIFD is multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors.

Gene Wiki entry for TAF6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAF6 Gene

Genomics for TAF6 Gene

Regulatory Elements for TAF6 Gene

Enhancers for TAF6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G100141 0.9 Ensembl ENCODE 16.4 -22.1 -22060 1.4 ESRRA HLF USF2 ZMYM3 CEBPB MAX ATF2 NFIL3 ZNF121 CEBPA AP4M1 TAF6 GAL3ST4 GPC2 STAG3 CNPY4 PVRIG GATS MCM7 RPL7P60
GH07G100244 1.3 Ensembl ENCODE 6 -127.1 -127108 4.3 HDGF PKNOX1 FOXA2 MLX ARNT SIN3A ARID4B FEZF1 DMAP1 ZNF2 STAG3L5P ZSCAN25 AP4M1 ZNF655 GIGYF1 PVRIG ENSG00000242798 LOC100131859 PPP1R35 PCOLCE-AS1
GH07G100085 1.4 FANTOM5 ENCODE 5 +31.0 30996 6.6 CREB3L1 AGO1 ZFP64 DMAP1 YBX1 YY1 ZNF143 ZNF548 ZNF263 SP3 AP4M1 MBLAC1 STAG3L5P ZSCAN25 ZNF655 GIGYF1 PCOLCE LOC100131859 CNPY4 PILRB
GH07G100076 1.2 ENCODE 4.9 +39.8 39755 6.7 CREB3L1 MLX DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 MEF2D SSRP1 AP4M1 ZSCAN25 ZNF655 SMURF1 MBLAC1 PPP1R35 ZSCAN21 GIGYF1 STAG3L5P ENSG00000242798
GH07G100153 1.1 ENCODE 5 -36.5 -36472 6.4 HDGF FOXA2 PKNOX1 CREB3L1 ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1 AP4M1 ZSCAN25 ENSG00000242798 MBLAC1 ZNF655 GIGYF1 PILRA LAMTOR4 STAG3L5P PPP1R35
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TAF6 on UCSC Golden Path with GeneCards custom track

Promoters for TAF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000215740 358 1801 HDGF CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

Genomic Location for TAF6 Gene

Chromosome:
7
Start:
100,107,070 bp from pter
End:
100,119,858 bp from pter
Size:
12,789 bases
Orientation:
Minus strand

Genomic View for TAF6 Gene

Genes around TAF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAF6 Gene

Proteins for TAF6 Gene

  • Protein details for TAF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49848-TAF6_HUMAN
    Recommended name:
    Transcription initiation factor TFIID subunit 6
    Protein Accession:
    P49848
    Secondary Accessions:
    • A4D2B2
    • A4D2B3
    • B4DT11
    • D6W5U2
    • Q6AI29

    Protein attributes for TAF6 Gene

    Size:
    677 amino acids
    Molecular mass:
    72668 Da
    Quaternary structure:
    • TFIID and PCAF are composed of TATA binding protein (TBP) and a number of TBP-associated factors (TAFs). TBP is not part of TFTC. Interacts directly with TBP, TAF1/TAFII250, TAF9/TAFII31 AND TAF12/TAFII20. The TAF6/TAFII70-TAF9/TAFII31 heterodimer forms an octamer complex with the TAF4B/TFII105-TAF12/TFIID20 heterodimer. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Also interacts with the GTFs, TFIIEalpha/GTF2E1 and TFIIFalpha/GTF2F1. Component of the TFTC-HAT complex.

    Three dimensional structures from OCA and Proteopedia for TAF6 Gene

    Alternative splice isoforms for TAF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TAF6 Gene

Post-translational modifications for TAF6 Gene

  • Ubiquitination at Lys78
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TAF6 Gene

Domains & Families for TAF6 Gene

Graphical View of Domain Structure for InterPro Entry

P49848

UniProtKB/Swiss-Prot:

TAF6_HUMAN :
  • Belongs to the TAF6 family.
Family:
  • Belongs to the TAF6 family.
genes like me logo Genes that share domains with TAF6: view

No data available for Gene Families for TAF6 Gene

Function for TAF6 Gene

Molecular function for TAF6 Gene

UniProtKB/Swiss-Prot Function:
TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TIIFD is multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors.

Gene Ontology (GO) - Molecular Function for TAF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 15601843
GO:0003700 contributes_to transcription factor activity, sequence-specific DNA binding IDA 9603525
GO:0005515 protein binding IPI 9045704
GO:0017162 aryl hydrocarbon receptor binding IPI 15641800
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with TAF6: view
genes like me logo Genes that share phenotypes with TAF6: view

Animal Models for TAF6 Gene

MGI Knock Outs for TAF6:
  • Taf6 tm1b(EUCOMM)Hmgu

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TAF6 Gene

Localization for TAF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAF6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TAF6 gene
Compartment Confidence
nucleus 5
cytosol 5
peroxisome 1

Gene Ontology (GO) - Cellular Components for TAF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005669 transcription factor TFIID complex IDA 14580349
GO:0005829 cytosol IDA --
GO:0033276 transcription factor TFTC complex IDA 9603525
genes like me logo Genes that share ontologies with TAF6: view

Pathways & Interactions for TAF6 Gene

genes like me logo Genes that share pathways with TAF6: view

Gene Ontology (GO) - Biological Process for TAF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006352 DNA-templated transcription, initiation IEA,IDA 9603525
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with TAF6: view

No data available for SIGNOR curated interactions for TAF6 Gene

Drugs & Compounds for TAF6 Gene

No Compound Related Data Available

Transcripts for TAF6 Gene

Unigene Clusters for TAF6 Gene

TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TAF6 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9a · 9b · 9c · 9d · 9e ^ 10a · 10b ^ 11a · 11b · 11c ·
SP1: -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - -
SP8: - - - - - - - - - -
SP9: - - - - - - -
SP10: - - - - -
SP11: - - - -
SP12: - -
SP13:
SP14: - - - - - - - - - - -
SP15: - - - - - -
SP16: - - -
SP17: - - -
SP18:
SP19: - - - -
SP20:

ExUns: 11d ^ 12 ^ 13 ^ 14 ^ 15
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for TAF6 Gene

GeneLoc Exon Structure for
TAF6
ECgene alternative splicing isoforms for
TAF6

Expression for TAF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TAF6 Gene

Protein differential expression in normal tissues from HIPED for TAF6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.2), Lymph node (9.2), Testis (8.5), and CD8 Tcells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TAF6 Gene



Protein tissue co-expression partners for TAF6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TAF6 Gene:

TAF6

SOURCE GeneReport for Unigene cluster for TAF6 Gene:

Hs.489309

Evidence on tissue expression from TISSUES for TAF6 Gene

  • Nervous system(4.8)
  • Liver(4.1)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with TAF6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TAF6 Gene

Orthologs for TAF6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TAF6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TAF6 34 35
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia TAF6 34 35
  • 90.25 (n)
oppossum
(Monodelphis domestica)
Mammalia TAF6 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TAF6 34 35
  • 89.56 (n)
rat
(Rattus norvegicus)
Mammalia Taf6 34
  • 87.92 (n)
mouse
(Mus musculus)
Mammalia Taf6 34 16 35
  • 87.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TAF6 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia taf6 34
  • 77.31 (n)
Str.4679 34
African clawed frog
(Xenopus laevis)
Amphibia LOC397724 34
zebrafish
(Danio rerio)
Actinopterygii taf6 34 35
  • 68.25 (n)
wufb83e08 34
fruit fly
(Drosophila melanogaster)
Insecta Taf6 36 34 35
  • 61.5 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004254 34
  • 58.24 (n)
worm
(Caenorhabditis elegans)
Secernentea taf-6.1 34
  • 41.55 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL020W 34
  • 45.05 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10659g 34
  • 44.27 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAF6 34 35 37
  • 42.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 62 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07757 34
  • 49.86 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes taf6 34
  • 46.32 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9313 34
Species where no ortholog for TAF6 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TAF6 Gene

ENSEMBL:
Gene Tree for TAF6 (if available)
TreeFam:
Gene Tree for TAF6 (if available)

Paralogs for TAF6 Gene

Paralogs for TAF6 Gene

genes like me logo Genes that share paralogs with TAF6: view

Variants for TAF6 Gene

Sequence variations from dbSNP and Humsavar for TAF6 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs374993554 Pathogenic, Alazami-Yuan syndrome (ALYUS) [MIM:617126] 100,113,899(+) AGTCA(A/G/T)TGTCA nc-transcript-variant, reference, missense
rs727503778 Pathogenic, Alazami-Yuan syndrome (ALYUS) [MIM:617126] 100,114,074(-) GCTAC(C/T)GCATC intron-variant, nc-transcript-variant, reference, missense
rs886041126 Pathogenic 100,106,841(+) GGGTG(C/T)GACAC downstream-variant-500B, upstream-variant-2KB, reference, stop-gained
rs147738731 Uncertain significance 100,106,862(+) GCGAC(A/G)CCTAT downstream-variant-500B, upstream-variant-2KB, reference, missense
rs755399414 Uncertain significance 100,119,722(+) GGTGA(-/TTGT)TTGTA upstream-variant-2KB, reference, frameshift-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TAF6 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
nsv1124248 CNV deletion 24896259
nsv469687 CNV loss 16826518
nsv607931 CNV loss 21841781
nsv824235 CNV gain 20364138
nsv951384 CNV deletion 24416366

Variation tolerance for TAF6 Gene

Residual Variation Intolerance Score: 5.66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TAF6 Gene

Human Gene Mutation Database (HGMD)
TAF6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAF6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAF6 Gene

Disorders for TAF6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TAF6 Gene - From: ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alazami-yuan syndrome
  • alyus
cornelia de lange syndrome 1
  • amstelodamensis typus degenerativus
nipbl-related cornelia de lange syndrome
  • cornelia de lange syndrome 1
cornelia de lange syndrome
  • brachmann de lange syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TAF6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TAF6_HUMAN
  • Alazami-Yuan syndrome (ALYUS) [MIM:617126]: An autosomal recessive syndrome reminiscent of Cornelia de Lange syndrome and characterized by delayed psychomotor development with intellectual disability, hypotonia, microcephaly, short stature, poor speech, and dysmorphic features. {ECO:0000269 PubMed:25558065, ECO:0000269 PubMed:25574841}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TAF6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TAF6
genes like me logo Genes that share disorders with TAF6: view

No data available for Genatlas for TAF6 Gene

Publications for TAF6 Gene

  1. Evolutionary conservation of human TATA-binding-polypeptide- associated factors TAFII31 and TAFII80 and interactions of TAFII80 with other TAFs and with general transcription factors. (PMID: 7667268) Hisatake K. … Roeder R.G. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 22 64
  2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  3. Core promoter binding by histone-like TAF complexes. (PMID: 15601843) Shao H. … Dikstein R. (Mol. Cell. Biol. 2005) 3 4 64
  4. Induced alpha-helix structure in the aryl hydrocarbon receptor transactivation domain modulates protein-protein interactions. (PMID: 15641800) Watt K. … McEwan I.J. (Biochemistry 2005) 3 22 64
  5. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PMID: 15960975) Dou Y. … Roeder R.G. (Cell 2005) 3 4 64

Products for TAF6 Gene

  • Addgene plasmids for TAF6

Sources for TAF6 Gene

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