1. Gene
  2. TRRAP - transformation/transcription domain associated protein Gene

TRRAP - transformation/transcription domain associated protein Gene

Homo sapiens

Also known as Tra1; TR-AP; DEDDFA; DFNA75; PAF400; STAF40; PAF350/400

Gene ID: 8295 | Gene type: protein coding

About TRRAP

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:98,878,532-99,013,241 (from NCBI)

This gene has 14 transcripts (splice variants), 242 orthologues, 5 paralogues and is associated with 118 phenotypes. Ubiquitous expression in testis (RPKM 10.2), ovary (RPKM 8.3) and 25 other tissues.

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]

TRRAP Products(3)

mRNA Protein Name
NM_001244580.2 NP_001231509.1 transformation/transcription domain-associated protein isoform 1
NM_001375524.1 NP_001362453.1 transformation/transcription domain-associated protein isoform 3
NM_003496.4 NP_003487.1 transformation/transcription domain-associated protein isoform 2

TRRAP Protein Structure

FAT

FAT: FAT domain (2851 - 3204)

PI3_PI4_kinase

PI3_PI4_kinase: Phosphatidylinositol 3- and 4-kinase (3540 - 3782)

  • 0
  • 600
  • 1200
  • 1800
  • 2400
  • 3000
  • 3600
  • 3859 a.a.
Protein Preferred Names Protein Names

transformation/transcription domain-associated protein

350/400 kDa PCAF-associated factor

Related Diseases

Diseases Alias
Developmental Delay With Or Without Dysmorphic Facies And Autism

DEDDFA

Deafness, Autosomal Dominant 75

DFNA75

Deafness, Autosomal Dominant, 75

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Hemangioma Of Spleen

Splenic Hemangioma

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus TRRAP VGNC VGNC:66601
Bos taurus TRRAP VGNC VGNC:36403
Mus musculus TRRAP MGD MGI:2153272
Macaca mulatta TRRAP VGNC VGNC:78657
Rattus norvegicus TRRAP RGD RGD:1305446
Canis familiaris TRRAP VGNC VGNC:47887