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

    Gene ID: 8295, updated on 5-May-2024

    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
    NEW
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    Genomic context

    See TRRAP in Genome Data Viewer
    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

    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
    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

    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

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    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_001244580.2NP_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
      A4D265, O75218, Q9Y4A5, Q9Y631, Q9Y6H4
      UniProtKB/TrEMBL
      F2Z2U4
      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
      Consensus CDS
      CCDS94151.1
      UniProtKB/TrEMBL
      F2Z2U4, H0Y4W2
      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/TrEMBL
      F2Z2U4
      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: 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)