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

Summary

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: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 73

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (98878532..99013241)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (100111864..100246554)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (98476155..98610864)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Beyond HAT Adaptor: TRRAP Liaisons with Sp1-Mediated Transcription.
Title: Beyond HAT Adaptor: TRRAP Liaisons with Sp1-Mediated Transcription.
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.
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.
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.
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.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2365 (e-PCR)
- UniSTS:11543

WI-17093 (e-PCR)
- UniSTS:68393

A008I35 (e-PCR)
- UniSTS:823

G67873 (e-PCR)
- UniSTS:225593

SHGC-79175 (e-PCR)
- UniSTS:102721

GDB:3754978 (e-PCR)
- UniSTS:2133

GDB:4585763 (e-PCR)
- UniSTS:10081

GDB:4585297 (e-PCR)
- UniSTS:43361

RH118609 (e-PCR)
- UniSTS:138099

NIB217 (e-PCR)
- UniSTS:73601

D7S651 (e-PCR)
- UniSTS:53377

SGC31237 (e-PCR)
- UniSTS:35214

GDB:4585656 (e-PCR)
- UniSTS:27569

D7S651 (e-PCR)
- UniSTS:39863

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-dependent chromatin remodeling	IBA Inferred from Biological aspect of Ancestor 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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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

NG_030010.1 RefSeqGene

Range

5043..139752

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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