TRRAP

TRRAP is 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.

Full Name

Transformation/Transcription Domain Associated Protein

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).

Biological Process

Biological Process chromatin organization Source:UniProtKB-KW
Biological Process DNA repair Source:GO_Central1 Publication
Biological Process histone acetylation Source:UniProtKB1 Publication
Biological Process histone deubiquitination Source:UniProtKB1 Publication
Biological Process histone H2A acetylation Source:UniProtKB1 Publication
Biological Process histone H3 acetylation Source:ComplexPortal1 Publication
Biological Process histone H4 acetylation Source:UniProtKB1 Publication
Biological Process monoubiquitinated histone deubiquitination Source:ComplexPortal1 Publication
Biological Process monoubiquitinated histone H2A deubiquitination Source:ComplexPortal1 Publication
Biological Process positive regulation of DNA-templated transcription Source:ComplexPortal2 Publications
Biological Process positive regulation of double-strand break repair via homologous recombination Source:ComplexPortal1 Publication
Biological Process regulation of apoptotic process Source:ComplexPortal1 Publication
Biological Process regulation of cell cycle Source:ComplexPortal1 Publication
Biological Process regulation of DNA repair Source:ComplexPortal2 Publications
Biological Process regulation of DNA-templated transcription Source:GO_Central1 Publication
Biological Process regulation of double-strand break repair Source:ComplexPortal1 Publication
Biological Process regulation of RNA splicing Source:ComplexPortal1 Publication
Biological Process regulation of transcription by RNA polymerase II Source:ComplexPortal1 Publication

Cellular Location

Nucleus

Involvement in disease

Developmental delay with or without dysmorphic facies and autism (DEDDFA):
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.
Deafness, autosomal dominant, 75 (DFNA75):
A form of non-syndromic deafness characterized by late-onset hearing loss that involves mid and high frequencies, and progresses to encompass all frequencies.