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TRRAP transformation/transcription domain associated protein [ Homo sapiens (human) ]

Gene ID: 8295, updated on 7-Apr-2024

Summary

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Official Symbol
TRRAPprovided by HGNC
Official Full Name
transformation/transcription domain associated proteinprovided by HGNC
Primary source
HGNC:HGNC:12347
See related
Ensembl:ENSG00000196367 MIM:603015; AllianceGenome:HGNC:12347
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Tra1; TR-AP; DEDDFA; DFNA75; PAF400; STAF40; PAF350/400
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 10.2), ovary (RPKM 8.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7q22.1
Exon count:
73
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (98878532..99013241)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100111864..100246554)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98476155..98610864)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18397 Neighboring gene RNA, U6 small nuclear 393, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98423765-98424340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26310 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:98445139-98446338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98448603-98449104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98450701-98451422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98466535-98467121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98467122-98467707 Neighboring gene transmembrane protein 130 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18399 Neighboring gene small nucleolar RNA U13 Neighboring gene small Cajal body-specific RNA 28 Neighboring gene microRNA 3609 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:98547245-98548444 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:98558926-98559090 Neighboring gene uncharacterized LOC101927550 Neighboring gene RNF14 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98631759-98632259 Neighboring gene Sharpr-MPRA regulatory region 1794 Neighboring gene SMAD specific E3 ubiquitin protein ligase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98695995-98696849 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98696850-98697703 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:98700145-98701344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98706490-98706992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26311 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18402 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:98749275-98749496 Neighboring gene karyopherin subunit alpha 7 Neighboring gene Sharpr-MPRA regulatory region 10979 Neighboring gene Sharpr-MPRA regulatory region 10425

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Lipid droplet screen in human hepatocytes identifies TRRAP as a regulator of cellular triglyceride metabolism. Abbey D, et al. Clin Transl Sci, 2021 Jul. PMID 34156146, Free PMC Article
  2. Depletion of TRRAP Induces p53-Independent Senescence in Liver Cancer by Down-Regulating Mitotic Genes. Kwan SY, et al. Hepatology, 2020 Jan. PMID 31188495, Free PMC Article
  3. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Cogné B, et al. Am J Hum Genet, 2019 Mar 7. PMID 30827496, Free PMC Article
  4. TRRAP stimulates the tumorigenic potential of ovarian cancer stem cells. Kang KT, et al. BMB Rep, 2018 Oct. PMID 29936929, Free PMC Article
  5. TRRAP is a central regulator of human multiciliated cell formation. Wang Z, et al. J Cell Biol, 2018 Jun 4. PMID 29588376, Free PMC Article

See all (192) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Interaction of transcription factor FoxO3 with histone acetyltransferase complex subunit TRRAP modulates gene expression and apoptosis.
    Title: Interaction of transcription factor FoxO3 with histone acetyltransferase complex subunit TRRAP modulates gene expression and apoptosis.
  2. Lipid droplet screen in human hepatocytes identifies TRRAP as a regulator of cellular triglyceride metabolism.
    Title: Lipid droplet screen in human hepatocytes identifies TRRAP as a regulator of cellular triglyceride metabolism.
  3. Beyond HAT Adaptor: TRRAP Liaisons with Sp1-Mediated Transcription.
    Title: Beyond HAT Adaptor: TRRAP Liaisons with Sp1-Mediated Transcription.
  4. Our results uncover a role for TRRAP/KAT5 in promoting hepatocellular carcinoma cell proliferation by activating mitotic genes. Targeting the TRRAP/KAT5 complex is a potential therapeutic strategy for hepatocellular carcinoma
    Title: Depletion of TRRAP Induces p53-Independent Senescence in Liver Cancer by Down-Regulating Mitotic Genes.
  5. Missense Variants in the TRRAP gene Causes Autism and Syndromic Intellectual Disability.
    Title: Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
  6. TRRAP silencing attenuated p53 accumulation in lymphoma and colon cancer models, whereas TRRAP overexpression increased mutp53 levels, suggesting a role for TRRAP across cancer entities and p53 mutations.
    Title: TRRAP is essential for regulating the accumulation of mutant and wild-type p53 in lymphoma.
  7. TRRAP, an essential component of multiple histone acetyltransferase complexes, was identified as a central regulator of multiciliated cell formation.
    Title: TRRAP is a central regulator of human multiciliated cell formation.
  8. TRRAP plays an important role in the regulation of the proliferation and stemness of ovarian cancer stem cells.
    Title: TRRAP stimulates the tumorigenic potential of ovarian cancer stem cells.
  9. Data suggest that ubiquitin thioesterase 7 (HAUSP) may act as an oncogenic protein that can modulate c-MYC protein expression via transformation-transcription domain-associated protein (TRRAP).
    Title: HAUSP regulates c-MYC expression via de-ubiquitination of TRRAP.
  10. study defined eight additional recurrently mutated genes in SMZL; these genes are CREBBP, CBFA2T3, AMOTL1, FAT4, FBXO11, PLA2G4D, TRRAP and USH2A.
    Title: Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental delay with or without dysmorphic facies and autism
MedGen: C5193106 OMIM: 618454 GeneReviews: Not available
Compare labs
Hearing loss, autosomal dominant 75
MedGen: C5394059 OMIM: 618778 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2019-04-24)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2019-04-24)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat SKIP recruits c-Myc and TRRAP to the HIV-1 Tat-activated LTR promoter. The c-Myc:TRRAP complex is repressive to HIV-1 transcription under UV stress PubMed
tat The core of the p400/TRRAP complex, consists of BAF53A, P400, RUVBL1, RUVBL2, TRRAP, are identified to interact with HIV-1 Tat in Jurkat cell PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10671

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables kinase activity IKR
Inferred from Key Residues
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coregulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of DNA-templated transcription NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of RNA splicing NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of double-strand break repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
part_of NuA4 histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of NuA4 histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of SAGA complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of SAGA complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of SAGA complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of Swr1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of nucleosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of transcription factor TFTC complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of transcription factor TFTC complex NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
transformation/transcription domain-associated protein
Names
350/400 kDa PCAF-associated factor
tra1 homolog

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030010.1 RefSeqGene

    Range
    5043..139752
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001244580.2 → NP_001231509.1  transformation/transcription domain-associated protein isoform 1

    See identical proteins and their annotated locations for NP_001231509.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an exon and uses two alternate splice sites in the coding region, but maintains the reading frame, compared to variant 3. The encoded isoform (1) is shorter than isoform 3.
    Source sequence(s)
    AC004893, AC004991, AF076974, AF110377
    Consensus CDS
    CCDS59066.1
    UniProtKB/Swiss-Prot
    A4D265, O75218, Q9Y4A5, Q9Y631, Q9Y6H4
    UniProtKB/TrEMBL
    F2Z2U4
    Related
    ENSP00000352925.4, ENST00000359863.8
    Conserved Domains (3) summary
    COG5032
    Location:2545 → 3859
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    cd05163
    Location:3496 → 3783
    PIKK_TRRAP; Pseudokinase domain of TRansformation/tRanscription domain-Associated Protein
    pfam02259
    Location:2861 → 3204
    FAT; FAT domain

  2. NM_001375524.1 → NP_001362453.1  transformation/transcription domain-associated protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AC004893, AC004991
    Consensus CDS
    CCDS94151.1
    UniProtKB/TrEMBL
    F2Z2U4, H0Y4W2
    Related
    ENSP00000394645.2, ENST00000456197.2
    Conserved Domains (3) summary
    COG5032
    Location:2552 → 3873
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    cd05163
    Location:3510 → 3797
    PIKK_TRRAP; Pseudokinase domain of TRansformation/tRanscription domain-Associated Protein
    pfam02259
    Location:2868 → 3200
    FAT; FAT domain

  3. NM_003496.4 → NP_003487.1  transformation/transcription domain-associated protein isoform 2

    See identical proteins and their annotated locations for NP_003487.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two exons and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 3. The encoded isoform (2) is shorter than isoform 3.
    Source sequence(s)
    AC004991, AF076974, AF110377
    Consensus CDS
    CCDS5659.1
    UniProtKB/TrEMBL
    F2Z2U4
    Related
    ENSP00000347733.3, ENST00000355540.7
    Conserved Domains (3) summary
    COG5032
    Location:2527 → 3830
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    cd05163
    Location:3467 → 3754
    PIKK_TRRAP; Pseudokinase domain of TRansformation/tRanscription domain-Associated Protein
    pfam02259
    Location:2843 → 3175
    FAT; FAT domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    98878532..99013241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    100111864..100246554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y4A5.3 GenPept UniProtKB/Swiss-Prot:Q9Y4A5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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