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

Gene ID: 8295, updated on 22-Aug-2021

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
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

See TRRAP in Genome Data Viewer
Location:
7q22.1
Exon count:
73
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (98878532..99013241)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98476155..98610864)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 393, pseudogene Neighboring gene transmembrane protein 130 Neighboring gene small Cajal body-specific RNA 28 Neighboring gene microRNA 3609 Neighboring gene uncharacterized LOC101927550 Neighboring gene RNF14 pseudogene 3 Neighboring gene SMAD specific E3 ubiquitin protein ligase 1 Neighboring gene karyopherin subunit alpha 7

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
involved_in histone H2A acetylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in histone H4 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in histone acetylation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in histone deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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
PubMed 
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
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

General protein information

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

  1. NG_030010.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001244580.2NP_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
    Q9Y4A5
    Related
    ENSP00000352925.4, ENST00000359863.8
    Conserved Domains (3) summary
    COG5032
    Location:25453859
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    cd05163
    Location:34963783
    PIKK_TRRAP; Pseudokinase domain of TRansformation/tRanscription domain-Associated Protein
    pfam02259
    Location:28613204
    FAT; FAT domain
  2. NM_001375524.1NP_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
    Related
    ENSP00000394645.2, ENST00000456197.2
    Conserved Domains (3) summary
    COG5032
    Location:25523873
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    cd05163
    Location:35103797
    PIKK_TRRAP; Pseudokinase domain of TRansformation/tRanscription domain-Associated Protein
    pfam02259
    Location:28683200
    FAT; FAT domain
  3. NM_003496.4NP_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/Swiss-Prot
    Q9Y4A5
    Related
    ENSP00000347733.3, ENST00000355540.7
    Conserved Domains (3) summary
    COG5032
    Location:25273830
    TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
    cd05163
    Location:34673754
    PIKK_TRRAP; Pseudokinase domain of TRansformation/tRanscription domain-Associated Protein
    pfam02259
    Location:28433175
    FAT; FAT domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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