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

TRRAP - transformation/transcription domain associated protein Gene

中文名称:转化/转录域相关蛋白

种属: Homo sapiens

同用名: Tra1; TR-AP; DEDDFA; DFNA75; PAF400; STAF40; PAF350/400

基因 ID: 8295 | 基因类型: protein coding

关于 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.

功能概要

该基因编码磷酸肌醇 3 激酶相关激酶 (PIKK) 家族的一个大型多结构域蛋白。编码的蛋白质是许多组蛋白乙酰转移酶 (HAT) 复合物的常见成分,并通过将 HAT 复合物募集到染色质而在转录和 DNA 修复中发挥作用。该基因的失调可能在多种类型的癌症中发挥作用,包括多形性胶质母细胞瘤。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
9708738 GOA
enables transcription coregulator activity IDA
IDA: 通过直接分析推断
11418595 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
27153538 GOA
involved in regulation of cell cycle IMP
IMP: 通过突变表型推断
27153538 GOA
involved in regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
9603525 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of NuA4 histone acetyltransferase complex IDA
IDA: 通过直接分析推断
10966108 GOA
part of SAGA complex IDA
IDA: 通过直接分析推断
11564863 GOA
part of Swr1 complex IDA
IDA: 通过直接分析推断
24463511 GOA
part of nucleosome IDA
IDA: 通过直接分析推断
27153538 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9708738 GOA
part of transcription factor TFTC complex IDA
IDA: 通过直接分析推断
10373431 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TRRAP 蛋白结构

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.
蛋白主名 其他名称

transformation/transcription domain-associated protein

350/400 kDa PCAF-associated factor

TRRAP 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TRRAP Q9Y4A5 MYC Homo sapiens P01106
Anti Tag CoIP
35271311
种属内
TRRAP Q9Y4A5 MYC Homo sapiens P01106
CoIP
9708738
种属内
TRRAP Q9Y4A5 ATXN7 Homo sapiens O15265
Anti Tag CoIP
35271311
种属内
TRRAP Q9Y4A5 ATXN7 Homo sapiens O15265
Anti Bait CoIP
15115762
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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