Human Gene TRRAP (ENST00000359863.8) from GENCODE V44
  Description: Homo sapiens transformation/transcription domain associated protein (TRRAP), transcript variant 1, mRNA. (from RefSeq NM_001244580)
RefSeq Summary (NM_001244580): This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011].
Gencode Transcript: ENST00000359863.8
Gencode Gene: ENSG00000196367.15
Transcript (Including UTRs)
   Position: hg38 chr7:98,878,490-99,013,243 Size: 134,754 Total Exon Count: 72 Strand: +
Coding Region
   Position: hg38 chr7:98,881,151-99,012,355 Size: 131,205 Coding Exon Count: 71 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:98,878,490-99,013,243)mRNA (may differ from genome)Protein (3859 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TRRAP_HUMAN
DESCRIPTION: RecName: Full=Transformation/transcription domain-associated protein; AltName: Full=350/400 kDa PCAF-associated factor; Short=PAF350/400; AltName: Full=STAF40; AltName: Full=Tra1 homolog;
FUNCTION: Adapter protein, which is found in various multiprotein chromatin complexes with histone acetyltransferase activity (HAT), which gives a specific tag for epigenetic transcription activation. Component of the NuA4 histone acetyltransferase complex which is responsible for acetylation of nucleosomal histones H4 and H2A. Plays a central role in MYC transcription activation, and also participates in cell transformation by MYC. Required for p53/TP53-, E2F1- and E2F4-mediated transcription activation. Also involved in transcription activation mediated by the adenovirus E1A, a viral oncoprotein that deregulates transcription of key genes. Probably acts by linking transcription factors such as E1A, MYC or E2F1 to HAT complexes such as STAGA thereby allowing transcription activation. Probably not required in the steps following histone acetylation in processes of transcription activation. May be required for the mitotic checkpoint and normal cell cycle progression.
SUBUNIT: Interacts with MYC, E2F1 and E2F4 transcription factors. Interacts directly with p53/TP53. Interacts with GCN5L2. Component of various HAT complexes. Component of the PCAF complex, at least composed of TADA2L/ADA2, SUPT3H, TADA3L/ADA3, TAF5L/PAF65-beta, TAF6L/PAF65-alpha, TAF10/TAFII30, TAF12/TAFII20, TAF9/TAFII31 and TRRAP. Component of the TFTC-HAT complex, at least composed of TAF5L, TAF6L, TADA3L, SUPT3H/SPT3, TAF2/TAFII150, TAF4/TAFII135, TAF5/TAFII100, GCN5L2/GCN5, TAF10 and TRRAP. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. Component of the STAGA complex, at least composed of SUPT3H, GCN5L2, SUPT7L, TAF5L, TAF6L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22. Component of the BAF53 complex, at least composed of BAF53A, RUVBL1, SMARCA4/BRG1, and TRRAP, which preferentially acetylates histone H4 (and H2A) within nucleosomes. Interacts with NPAT. Interaction with TELO2 AND TTI1.
INTERACTION: O15265:ATXN7; NbExp=6; IntAct=EBI-399128, EBI-708350; P38398:BRCA1; NbExp=8; IntAct=EBI-399128, EBI-349905; P11474:ESRRA; NbExp=3; IntAct=EBI-399128, EBI-372412; P01106:MYC; NbExp=4; IntAct=EBI-399128, EBI-447544;
SUBCELLULAR LOCATION: Nucleus.
DOMAIN: The PI3K/PI4K domain is required for the recruitment of HAT complexes, and the MYC-dependent transactivation. Although it is strongly related to the PI3/PI4-kinase family, it lacks the typical motifs that constitute the catalytic site of PI3/PI4- kinase proteins, and lacks such activity.
DISEASE: Note=TRRAP mutation Phe-722 has been frequently found in cutaneous malignant melanoma, suggesting that TRRAP may play a role in the pathogenesis of melanoma (PubMed:21499247).
SIMILARITY: Belongs to the PI3/PI4-kinase family. TRA1 subfamily.
SIMILARITY: Contains 1 FAT domain.
SIMILARITY: Contains 1 FATC domain.
SIMILARITY: Contains 1 PI3K/PI4K domain.
SEQUENCE CAUTION: Sequence=AAC62433.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TRRAP
Diseases sorted by gene-association score: lung large cell carcinoma (16), splenic marginal zone lymphoma (7), spinocerebellar ataxia 7 (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.14 RPKM in Pituitary
Total median expression: 299.68 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -109.80209-0.525 Picture PostScript Text
3' UTR -256.40888-0.289 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
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR003152 - FATC
IPR011009 - Kinase-like_dom
IPR000403 - PI3/4_kinase_cat_dom
IPR003151 - PIK-rel_kinase_FAT
IPR014009 - PIK_FAT
IPR011990 - TPR-like_helical

Pfam Domains:
PF02259 - FAT domain
PF00454 - Phosphatidylinositol 3- and 4-kinase

ModBase Predicted Comparative 3D Structure on Q9Y4A5
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-  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
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003712 transcription cofactor activity
GO:0005515 protein binding
GO:0016301 kinase activity
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity

Biological Process:
GO:0006281 DNA repair
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0016310 phosphorylation
GO:0016573 histone acetylation
GO:0016578 histone deubiquitination
GO:0016579 protein deubiquitination
GO:0043967 histone H4 acetylation
GO:0043968 histone H2A acetylation
GO:1904837 beta-catenin-TCF complex assembly

Cellular Component:
GO:0000123 histone acetyltransferase complex
GO:0000125 PCAF complex
GO:0000812 Swr1 complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus
GO:0030914 STAGA complex
GO:0033276 transcription factor TFTC complex
GO:0035267 NuA4 histone acetyltransferase complex


-  Descriptions from all associated GenBank mRNAs
  AF076974 - Homo sapiens TRRAP protein (TRRAP) mRNA, complete cds.
AF110377 - Homo sapiens PCAF-associated factor 400 (PAF400) mRNA, complete cds.
AB209489 - Homo sapiens mRNA for Transformation/transcription domain-associated protein variant protein.
BC172895 - Synthetic construct Homo sapiens clone IMAGE:9094471 transformation/transcription domain-associated protein (TRRAP) gene, partial cds.
JD322491 - Sequence 303515 from Patent EP1572962.
BC172904 - Synthetic construct Homo sapiens clone IMAGE:9094480 transformation/transcription domain-associated protein (TRRAP) gene, partial cds.
DQ576258 - Homo sapiens piRNA piR-44370, complete sequence.
BC172896 - Synthetic construct Homo sapiens clone IMAGE:9094472 transformation/transcription domain-associated protein (TRRAP) gene, partial cds.
JD389901 - Sequence 370925 from Patent EP1572962.
JD170567 - Sequence 151591 from Patent EP1572962.
JD217555 - Sequence 198579 from Patent EP1572962.
AL050077 - Homo sapiens mRNA; cDNA DKFZp566G1746 (from clone DKFZp566G1746).
JD349574 - Sequence 330598 from Patent EP1572962.
JD555908 - Sequence 536932 from Patent EP1572962.
DQ593524 - Homo sapiens piRNA piR-33636, complete sequence.
JD160332 - Sequence 141356 from Patent EP1572962.
BC032759 - Homo sapiens transformation/transcription domain-associated protein, mRNA (cDNA clone IMAGE:3452385), partial cds.
JD317688 - Sequence 298712 from Patent EP1572962.
JD504836 - Sequence 485860 from Patent EP1572962.
JD484605 - Sequence 465629 from Patent EP1572962.
JD326647 - Sequence 307671 from Patent EP1572962.
JD494455 - Sequence 475479 from Patent EP1572962.
JD258636 - Sequence 239660 from Patent EP1572962.
JD202000 - Sequence 183024 from Patent EP1572962.
AK001533 - Homo sapiens cDNA FLJ10671 fis, clone NT2RP2006333.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_pitx2Pathway - Multi-step Regulation of Transcription by Pitx2

Reactome (by CSHL, EBI, and GO)

Protein Q9Y4A5 (Reactome details) participates in the following event(s):

R-HSA-3451153 Beta-catenin recruits TRRAP/KAT5 HAT components
R-HSA-3321975 NuA4 complex acetylates histone H2A, HIST1H4
R-NUL-4551334 NuA4 complex actetylates H2A and H4
R-NUL-3451144 KAT5 HAT complex acetylates TCF4 (ITF-2) gene at histone H4
R-HSA-3451147 KAT5 HAT complex acetylates TCF4 gene at histone H4
R-HSA-3301237 KAT2 complexes acetylate histone H3
R-HSA-5690080 USP3,SAGA deubiquitinate Histone H2A,H2B
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-3214847 HATs acetylate histones
R-HSA-195721 Signaling by WNT
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-5689880 Ub-specific processing proteases
R-HSA-162582 Signal Transduction
R-HSA-4839726 Chromatin organization
R-HSA-5688426 Deubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A4D265, ENST00000359863.1, ENST00000359863.2, ENST00000359863.3, ENST00000359863.4, ENST00000359863.5, ENST00000359863.6, ENST00000359863.7, NM_001244580, O75218, PAF400, Q9Y4A5, Q9Y631, Q9Y6H4, TRRAP_HUMAN, uc003upp.1, uc003upp.2, uc003upp.3
UCSC ID: ENST00000359863.8
RefSeq Accession: NM_001244580
Protein: Q9Y4A5 (aka TRRAP_HUMAN or TRAP_HUMAN)
CCDS: CCDS5659.1, CCDS59066.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.