Human Gene TAF8 (uc003orr.3) Description and Page Index
  Description: Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa (TAF8), mRNA.
RefSeq Summary (NM_138572): 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]. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.214491.1, SRR1803614.40703.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000372977.8/ ENSP00000362068.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr6:42,018,251-42,025,516 Size: 7,266 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr6:42,018,280-42,025,287 Size: 7,008 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr6:42,018,251-42,025,516)mRNA (may differ from genome)Protein (174 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Transcription initiation factor TFIID subunit 8; AltName: Full=Protein taube nuss; AltName: Full=TBP-associated factor 43 kDa; AltName: Full=TBP-associated factor 8; AltName: Full=Transcription initiation factor TFIID 43 kDa subunit; Short=TAFII-43; Short=TAFII43; Short=hTAFII43;
FUNCTION: Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. Mediates both basal and activator-dependent transcription. Plays a role in the differentiation of preadipocyte fibroblasts to adipocytes, however, does not seem to play a role in differentiation of myoblasts. Required for the integration of TAF10 in the TAF complex. May be important for survival of cells of the inner cell mass which constitute the pluripotent cell population of the early embryo (By similarity).
SUBUNIT: TFIID is composed of TATA binding protein (TBP) and a number of TBP-associated factors (TAFs). Interacts with TBP, TAF1, TAF6, TAF10, TAF11 and TAF13. Component also of a small TAF complex (SMAT) containing TAF8, TAF10 and SUPT7L. Forms a heterodimer with TAF10. Interaction with TAF10 is mediated mainly via its histone fold domain while interaction with SUPT7L is via its C-terminal region.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm (By similarity). Note=Localized in the cytoplasm and transported from the cytoplasm to the nucleus in some cells, possibly depending on the functional or developmental state of the cell (By similarity).
INDUCTION: Induced with triglyceride accumulation.
DOMAIN: Ectopic expression of the histone fold domain acts as a dominant-negative mutant resulting in differentiation inhibition.
MISCELLANEOUS: 'Taube nuss' means "empty nut' in German.
SIMILARITY: Belongs to the TAF8 family.
SIMILARITY: Contains 1 histone-fold domain.
SEQUENCE CAUTION: Sequence=BAB71460.1; Type=Frameshift; Positions=240;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TAF8
CDC HuGE Published Literature: TAF8

-  MalaCards Disease Associations
  MalaCards Gene Search: TAF8
Diseases sorted by gene-association score: poland syndrome (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.38 RPKM in Thyroid
Total median expression: 122.38 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.6029-0.159 Picture PostScript Text
3' UTR -64.60229-0.282 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006565 - BTP
IPR009072 - Histone-fold
IPR019473 - TFIID_su8_C

Pfam Domains:
PF07524 - Bromodomain associated
PF10406 - Transcription factor TFIID complex subunit 8 C-term
PF17027 - Histone-fold protein

SCOP Domains:
47113 - Histone-fold

ModBase Predicted Comparative 3D Structure on Q7Z7C8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0001833 inner cell mass cell proliferation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0030154 cell differentiation
GO:0042795 snRNA transcription from RNA polymerase II promoter
GO:0045598 regulation of fat cell differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0051457 maintenance of protein location in nucleus

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005669 transcription factor TFIID complex
GO:0005737 cytoplasm
GO:0048471 perinuclear region of cytoplasm

-  Descriptions from all associated GenBank mRNAs
  BC033728 - Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa, mRNA (cDNA clone IMAGE:5166848), with apparent retained intron.
BC119678 - Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa, mRNA (cDNA clone MGC:149563 IMAGE:40116287), complete cds.
BC119679 - Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa, mRNA (cDNA clone MGC:149564 IMAGE:40116290), complete cds.
AK057383 - Homo sapiens cDNA FLJ32821 fis, clone TESTI2003005, highly similar to Mus musculus taube nuss mRNA.
AL833401 - Homo sapiens mRNA; cDNA DKFZp313E0720 (from clone DKFZp313E0720).
BC018796 - Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa, mRNA (cDNA clone IMAGE:3027950), with apparent retained intron.
AF465841 - Homo sapiens TBP-associated factor TAFII43 (TAFII43) mRNA, complete cds.
CU689710 - Synthetic construct Homo sapiens gateway clone IMAGE:100018150 5' read TAF8 mRNA.
KJ903752 - Synthetic construct Homo sapiens clone ccsbBroadEn_13146 TAF8 gene, encodes complete protein.
KJ903753 - Synthetic construct Homo sapiens clone ccsbBroadEn_13147 TAF8 gene, encodes complete protein.
AK303097 - Homo sapiens cDNA FLJ57866 complete cds, highly similar to Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, mRNA.
DL491588 - Novel nucleic acids.
DL490183 - Novel nucleic acids.
JD517599 - Sequence 498623 from Patent EP1572962.
JD105907 - Sequence 86931 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q7Z7C8 (Reactome details) participates in the following event(s):

R-HSA-6810234 General transcription factors bind SNAPc:POU2F1:ZNF143:snRNA gene
R-HSA-6810238 RNA polymerase II binds initiation factors at promoter of snRNA gene (U1, U2, U4, U4atac, U5, U11, U12)
R-HSA-6810235 RPAP2 binds RNA polymerase II phosphorylated at serine-7 residues of heptad repeats in the C-terminal domain
R-HSA-6810233 CDK7 phosphorylates serine-5 and serine-7 of heptad repeats in C-terminal domain of RNA polymerase II at snRNA promoter
R-HSA-6814885 CBCAP complex binds 7-methylguanosine cap of snRNA
R-HSA-6807505 RNA polymerase II transcribes snRNA genes
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: CU689711, NM_138572, NP_612639, Q5T0K1, Q7Z7C8, Q8N4R9, Q96M52, TAF8_HUMAN, TAFII43, TBN
UCSC ID: uc003orr.3
RefSeq Accession: NM_138572
Protein: Q7Z7C8 (aka TAF8_HUMAN)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: CU689711.1
exon count: 5CDS single in 3' UTR: no RNA size: 1211
ORF size: 525CDS single in intron: no Alignment % ID: 99.81
txCdsPredict score: 1205.00frame shift in genome: no % Coverage: 43.27
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 265# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.