protein
Transformation/transcription domain-associated protein
Gene
TRRAP
Organism
Homo sapiens(9606)
Length
3859 aa
Mass
437,600 Da
TRRAP (Transformation/transcription domain-associated protein) is a 3859-amino acid adapter protein that functions as a component of chromatin remodeling complexes with histone acetyltransferase activity (UniProt: Q9Y4A5). It mediates epigenetic transcription activation by linking transcription factors such as MYC, E2F1, and E1A to HAT complexes like STAGA, thereby promoting histone acetylation of H4 and H2A. TRRAP also participates in histone H2A.Z removal and may support auditory system formation.
TRRAP is implicated in multiple neurodevelopmental and sensory pathways. Mutations associate with developmental delay with or without dysmorphic facies and autism (DEDDFA; MIM 618454), an autosomal dominant disorder featuring intellectual disability, autism spectrum disorder, and variable systemic involvement including structural brain abnormalities and epilepsy (UniProt: Q9Y4A5). TRRAP mutations additionally cause autosomal dominant non-syndromic deafness (DFNA75; MIM 618778), characterized by progressive late-onset hearing loss.
TRRAP carries SFARI category 2 classification with a syndromic tag, reflecting its established association with autism in the context of a broader neurodevelopmental phenotype (SFARI Cat 2). This syndromic presentation distinguishes TRRAP's autism relevance from non-syndromic forms of the disorder.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
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)
Disease associations
Developmental delay with or without dysmorphic facies and autismDEDDFA
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, 75DFNA75
A form of non-syndromic deafness characterized by late-onset hearing loss that involves mid and high frequencies, and progresses to encompass all frequencies.
Sources
Last updated 5/6/2026, 5:23:43 AM