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 glioblas... See more...

Aliases for TRRAP Gene

Aliases for TRRAP Gene

  • Transformation/Transcription Domain Associated Protein 2 3 5
  • Transformation/Transcription Domain-Associated Protein 2 3 4
  • PAF400 2 3 4
  • 350/400 KDa PCAF-Associated Factor 3 4
  • Tra1 Homolog 3 4
  • PAF350/400 3 4
  • STAF40 3 4
  • TR-AP 2 3
  • Tra1 2 3
  • DEDDFA 3
  • DFNA75 3
  • TRRAP 5

External Ids for TRRAP Gene

Previous GeneCards Identifiers for TRRAP Gene

  • GC07P097010
  • GC07P098073
  • GC07P098087
  • GC07P098120
  • GC07P098314
  • GC07P098475
  • GC07P093109

Summaries for TRRAP Gene

Entrez Gene Summary for TRRAP Gene

  • 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]

GeneCards Summary for TRRAP Gene

TRRAP (Transformation/Transcription Domain Associated Protein) is a Protein Coding gene. Diseases associated with TRRAP include Developmental Delay With Or Without Dysmorphic Facies And Autism and Deafness, Autosomal Dominant 75. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Chromatin organization. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and transcription coactivator activity. An important paralog of this gene is PRKDC.

UniProtKB/Swiss-Prot Summary for TRRAP Gene

  • 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. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AZ1 from the nucleosome. May play a role in the formation and maintenance of the auditory system (By similarity).

Gene Wiki entry for TRRAP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRRAP Gene

Genomics for TRRAP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRRAP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRRAP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRRAP

Top Transcription factor binding sites by QIAGEN in the TRRAP gene promoter:
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • p53
  • Pax-6
  • PPAR-gamma1
  • PPAR-gamma2
  • RREB-1

Genomic Locations for TRRAP Gene

Latest Assembly
chr7:98,877,933-99,050,831
(GRCh38/hg38)
Size:
172,899 bases
Orientation:
Plus strand

Previous Assembly
chr7:98,476,155-98,610,864
(GRCh37/hg19 by Entrez Gene)
Size:
134,710 bases
Orientation:
Plus strand

chr7:98,475,556-98,610,866
(GRCh37/hg19 by Ensembl)
Size:
135,311 bases
Orientation:
Plus strand

Genomic View for TRRAP Gene

Genes around TRRAP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TRRAP Gene

Proteins for TRRAP Gene

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

    Protein Symbol:
    Q9Y4A5-TRRAP_HUMAN
    Recommended name:
    Transformation/transcription domain-associated protein
    Protein Accession:
    Q9Y4A5
    Secondary Accessions:
    • A4D265
    • O75218
    • Q9Y631
    • Q9Y6H4

    Protein attributes for TRRAP Gene

    Size:
    3859 amino acids
    Molecular mass:
    437600 Da
    Quaternary structure:
    • 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. Component of a SWR1-like complex.
    SequenceCaution:
    • Sequence=AAC62433.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TRRAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRRAP Gene

Post-translational modifications for TRRAP Gene

  • Ubiquitination at Lys2059, Lys2638, Lys3050, Lys3508, Lys3598, and Lys3834
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TRRAP Gene

Domains & Families for TRRAP Gene

Gene Families for TRRAP Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TRRAP Gene

InterPro:
Blocks:
  • Phosphatidylinositol 3- and 4-kinase
  • PIK-related kinase, FAT

Suggested Antigen Peptide Sequences for TRRAP Gene

GenScript: Design optimal peptide antigens:
  • TRRAP protein (Q8N563_HUMAN)
  • Tra1 homolog (TRRAP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y4A5

UniProtKB/Swiss-Prot:

TRRAP_HUMAN :
  • 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.
  • Belongs to the PI3/PI4-kinase family. TRA1 subfamily.
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.
Family:
  • Belongs to the PI3/PI4-kinase family. TRA1 subfamily.
genes like me logo Genes that share domains with TRRAP: view

Function for TRRAP Gene

Molecular function for TRRAP Gene

UniProtKB/Swiss-Prot 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. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AZ1 from the nucleosome. May play a role in the formation and maintenance of the auditory system (By similarity).
GENATLAS Biochemistry:
transformation/transcription domain associated protein,434kDa,essential cofactor for the c-Myc and E2F oncoproteins

Phenotypes From GWAS Catalog for TRRAP Gene

Gene Ontology (GO) - Molecular Function for TRRAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003712 transcription coregulator activity IDA 11418595
GO:0005515 protein binding IEA,IPI 9708738
GO:0016301 NOT kinase activity IEA,IKR 9708738
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with TRRAP: view
genes like me logo Genes that share phenotypes with TRRAP: view

Human Phenotype Ontology for TRRAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRRAP Gene

MGI Knock Outs for TRRAP:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRRAP

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRRAP Gene

Localization for TRRAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRRAP 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 TRRAP gene
Compartment Confidence
nucleus 5
golgi apparatus 4
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for TRRAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IEA --
GO:0000124 SAGA complex IBA 21873635
GO:0000125 PCAF complex NAS 9885574
GO:0000812 Swr1 complex IDA 24463511
GO:0005634 nucleus IEA,IDA 9708738
genes like me logo Genes that share ontologies with TRRAP: view

Pathways & Interactions for TRRAP Gene

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

SIGNOR curated interactions for TRRAP Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TRRAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IBA 21873635
GO:0006325 chromatin organization IEA --
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0016310 phosphorylation IEA --
GO:0016573 histone acetylation IEA,NAS 10966108
genes like me logo Genes that share ontologies with TRRAP: view

Drugs & Compounds for TRRAP Gene

(1) Additional Compounds for TRRAP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TRRAP: view

Transcripts for TRRAP Gene

mRNA/cDNA for TRRAP Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRRAP

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c ^ 22 ^
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ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30a · 30b · 30c ^ 31 ^ 32a · 32b · 32c ^ 33a · 33b · 33c ^ 34a · 34b ^ 35a · 35b ^ 36a · 36b ^ 37a · 37b ^
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ExUns: 38a · 38b ^ 39a · 39b · 39c ^ 40 ^ 41a · 41b ^ 42a · 42b ^ 43 ^ 44a · 44b ^ 45 ^ 46 ^ 47a · 47b · 47c ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^
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ExUns: 56 ^ 57 ^ 58 ^ 59 ^
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Relevant External Links for TRRAP Gene

GeneLoc Exon Structure for
TRRAP

Expression for TRRAP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for TRRAP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.5), Placenta (11.5), and Bone marrow stromal cell (6.2).

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



Protein tissue co-expression partners for TRRAP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRRAP

SOURCE GeneReport for Unigene cluster for TRRAP Gene:

Hs.203952

Evidence on tissue expression from TISSUES for TRRAP Gene

  • Liver(4.4)
  • Heart(4.4)
  • Nervous system(3.7)
  • Intestine(2.5)
  • Kidney(2.3)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with TRRAP: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRRAP Gene

Orthologs for TRRAP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TRRAP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TRRAP 29 30
  • 99.6 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TRRAP 30
  • 96 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TRRAP 30
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TRRAP 29 30
  • 90.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TRRAP 29 30
  • 88.79 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Trrap 29 16 30
  • 87.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Trrap 29
  • 87.72 (n)
Chicken
(Gallus gallus)
Aves TRRAP 29 30
  • 81.43 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TRRAP 30
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia trrap 29
  • 79.77 (n)
Str.6856 29
Zebrafish
(Danio rerio)
Actinopterygii trrap 29 30
  • 79.17 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005533 29
  • 59.73 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Nipped-A 29 30
  • 54.71 (n)
OneToOne
Tra1 31
  • 51 (a)
Worm
(Caenorhabditis elegans)
Secernentea trr-1 29 30
  • 42.69 (n)
OneToOne
C47D12.1 31
  • 23 (a)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER393C 29
  • 43.91 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRA1 29 30 32
  • 43.3 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22066g 29
  • 42.65 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G17930 29
  • 44.91 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 77 (a)
OneToMany
CSA.2888 30
  • 73 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU01379 29
  • 45.84 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tra1 29
  • 41.84 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13901 29
Species where no ortholog for TRRAP was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TRRAP Gene

ENSEMBL:
Gene Tree for TRRAP (if available)
TreeFam:
Gene Tree for TRRAP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRRAP: view image
Alliance of Genome Resources:
Additional Orthologs for TRRAP

Paralogs for TRRAP Gene

Paralogs for TRRAP Gene

Pseudogenes.org Pseudogenes for TRRAP Gene

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

Variants for TRRAP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRRAP Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1028622 Uncertain Significance: Developmental delay with or without dysmorphic facies and autism 99,011,119(+) C/T
NM_001375524.1(TRRAP):c.11006C>T (p.Ala3669Val)
MISSENSE
1028623 Pathogenic: Developmental delay with or without dysmorphic facies and autism 98,930,124(+) A/G
NM_001375524.1(TRRAP):c.3311A>G (p.Glu1104Gly)
MISSENSE
1028624 Uncertain Significance: Developmental delay with or without dysmorphic facies and autism 98,897,783(+) G/A
NM_001375524.1(TRRAP):c.550G>A (p.Val184Met)
MISSENSE
1028625 Uncertain Significance: Developmental delay with or without dysmorphic facies and autism 98,965,802(+) C/T
NM_001375524.1(TRRAP):c.7083C>T (p.Leu2361=)
SYNONYMOUS
1028626 Uncertain Significance: Developmental delay with or without dysmorphic facies and autism 98,978,235(+) A/C
NM_001375524.1(TRRAP):c.8410A>C (p.Met2804Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TRRAP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv3614265 CNV loss 21293372
nsv1140825 CNV deletion 24896259
nsv474360 CNV novel sequence insertion 20440878

Variation tolerance for TRRAP Gene

Residual Variation Intolerance Score: 0.0181% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRRAP Gene

Human Gene Mutation Database (HGMD)
TRRAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRRAP
Leiden Open Variation Database (LOVD)
TRRAP

SNP Genotyping and Copy Number Assays for research

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

Disorders for TRRAP Gene

MalaCards: The human disease database

(10) MalaCards diseases for TRRAP Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
developmental delay with or without dysmorphic facies and autism
  • deddfa
deafness, autosomal dominant 75
  • dfna75
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
autism
  • autistic disorder
hemangioma of spleen
  • splenic hemangioma
- elite association - COSMIC cancer census association via MalaCards
Search TRRAP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRRAP_HUMAN
  • 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. {ECO:0000269 PubMed:21499247}.
  • Developmental delay with or without dysmorphic facies and autism (DEDDFA) [MIM:618454]: An autosomal dominant neurodevelopmental disorder apparent from infancy or early childhood. Some patients present with intellectual disability and renal, cardiac, genitourinary systems, as well as structural brain abnormalities. In some cases, the phenotype is less severe, has no systemic involvement and is characterized by autism spectrum disorder and/or intellectual disability, sometimes associated with epilepsy. Affected individuals manifest variable dysmorphic features. {ECO:0000269 PubMed:30424743, ECO:0000269 PubMed:30827496}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 75 (DFNA75) [MIM:618778]: A form of non-syndromic deafness characterized by late-onset hearing loss that involves mid and high frequencies, and progresses to encompass all frequencies. {ECO:0000269 PubMed:31231791}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for TRRAP

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TRRAP: view

No data available for Genatlas for TRRAP Gene

Publications for TRRAP Gene

  1. The novel ATM-related protein TRRAP is an essential cofactor for the c-Myc and E2F oncoproteins. (PMID: 9708738) McMahon SB … Cole MD (Cell 1998) 2 3 4 22
  2. Transcriptional activation of histone genes requires NPAT-dependent recruitment of TRRAP-Tip60 complex to histone promoters during the G1/S phase transition. (PMID: 17967892) DeRan M … Zhao J (Molecular and cellular biology 2008) 3 4 22
  3. The adenovirus E1A oncoprotein recruits the cellular TRRAP/GCN5 histone acetyltransferase complex. (PMID: 12743606) Lang SE … Hearing P (Oncogene 2003) 3 4 22
  4. c-Myc transformation domain recruits the human STAGA complex and requires TRRAP and GCN5 acetylase activity for transcription activation. (PMID: 12660246) Liu X … Martinez E (The Journal of biological chemistry 2003) 3 4 22
  5. BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation. (PMID: 11839798) Park J … Cole MD (Molecular and cellular biology 2002) 3 4 22

Products for TRRAP Gene

Sources for TRRAP Gene