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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 Apoptotic Pathways in Synovial Fibroblasts and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for TAF6 Gene

Promoters and enhancers for TAF6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I100118 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.1 87 2.6 HDGF PKNOX1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B IRF4 CNPY4 TAF6 AP4M1 ZSCAN25 GIGYF1 SRRT ZNF655 STAG3L5P ZNF3 ENSG00000242798
GH07I100704 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.5 -586.4 -586382 2.9 CLOCK MLX DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC ZFP41 ZNF610 POP7 ZSCAN21 SRRT STAG3L5P GIGYF1 ENSG00000242798 ZNF3 AP4M1 TRIM4 PILRB
GH07I100153 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.6 -36.5 -36471 6.4 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 POLR2B C7orf43 MIR4658 PIR34225 ZNF3 GIGYF1 AP4M1 ZNF655 ENSG00000242798 ZSCAN25 MBLAC1
GH07I099437 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.4 +680.5 680485 3.3 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B PTCD1 PIR43796 CPSF4 ZSCAN21 LOC100131859 AP4M1 TAF6 ZSCAN25 TRRAP CNPY4
GH07I099557 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11.2 +558.9 558872 7.9 ZFP64 DMAP1 YY1 E2F8 ZNF143 SP3 MEF2D SSRP1 GLIS1 NBN ZNF655 FAM200A ZSCAN25 ZNF3 TRIM4 PTCD1 LOC101927550 ZNF394 LOC100419643 TRRAP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TAF6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TAF6 gene promoter:

Genomic Locations for TAF6 Gene

Genomic Locations for TAF6 Gene
chr7:100,107,070-100,119,858
(GRCh38/hg38)
Size:
12,789 bases
Orientation:
Minus strand
chr7:99,704,693-99,717,481
(GRCh37/hg19)

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 isoforms=2, 378
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TAF6 Gene

Domains & Families for TAF6 Gene

Gene Families for TAF6 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for TAF6 Gene

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 DNA binding transcription factor activity 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

Human Phenotype Ontology for TAF6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TAF6 Gene

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

Clone Products

  • Addgene plasmids for TAF6

No data available for Enzyme Numbers (IUBMB) , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

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 by RNA polymerase II 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:

Clone Products

  • Addgene plasmids for TAF6

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

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 33 34
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia TAF6 33 34
  • 90.25 (n)
oppossum
(Monodelphis domestica)
Mammalia TAF6 34
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TAF6 33 34
  • 89.56 (n)
rat
(Rattus norvegicus)
Mammalia Taf6 33
  • 87.92 (n)
mouse
(Mus musculus)
Mammalia Taf6 33 16 34
  • 87.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TAF6 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia taf6 33
  • 77.31 (n)
Str.4679 33
African clawed frog
(Xenopus laevis)
Amphibia LOC397724 33
zebrafish
(Danio rerio)
Actinopterygii taf6 33 34
  • 68.25 (n)
wufb83e08 33
fruit fly
(Drosophila melanogaster)
Insecta Taf6 35 33 34
  • 61.5 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004254 33
  • 58.24 (n)
worm
(Caenorhabditis elegans)
Secernentea taf-6.1 33
  • 41.55 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL020W 33
  • 45.05 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10659g 33
  • 44.27 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAF6 33 34 36
  • 42.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07757 33
  • 49.86 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes taf6 33
  • 46.32 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9313 33
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 Variation AA Info Type
rs374993554 pathogenic, likely-pathogenic, Syndromic intellectual disability, Abnormal facial shape, Global developmental delay, Alazami-Yuan syndrome, Alazami-Yuan syndrome (ALYUS) [MIM:617126] 100,113,899(-) A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs4134932 benign, not specified, Spastic paraplegia 50, autosomal recessive 100,106,825(-) C/T downstream_transcript_variant
rs727503778 pathogenic, Cornelia de Lange syndrome 1, Alazami-Yuan syndrome, Alazami-Yuan syndrome (ALYUS) [MIM:617126] 100,114,074(-) G/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs773269627 uncertain-significance, Spastic paraplegia 50, autosomal recessive 100,106,715(-) C/A/T downstream_transcript_variant
rs886041126 pathogenic, not provided 100,106,841(-) C/T downstream_transcript_variant

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)

Additional Variant Information for TAF6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TAF6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TAF6 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alazami-yuan syndrome
  • alyus
cornelia de lange syndrome 1
  • cdls1
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.

Additional Disease Information for 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 RG (Proceedings of the National Academy of Sciences of the United States of America 1995) 3 4 22 58
  2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
  3. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PMID: 15960975) Dou Y … Roeder RG (Cell 2005) 3 4 58
  4. Core promoter binding by histone-like TAF complexes. (PMID: 15601843) Shao H … Dikstein R (Molecular and cellular biology 2005) 3 4 58
  5. Induced alpha-helix structure in the aryl hydrocarbon receptor transactivation domain modulates protein-protein interactions. (PMID: 15641800) Watt K … McEwan IJ (Biochemistry 2005) 3 22 58

Products for TAF6 Gene

  • Addgene plasmids for TAF6

Sources for TAF6 Gene