1. Gene
  2. MED13 - mediator complex subunit 13 Gene

MED13 - mediator complex subunit 13 Gene

中文名称:调解复合体亚基 13

种属: Homo sapiens

同用名: MRD61; ARC250; THRAP1; DRIP250; HSPC221; TRAP240

基因 ID: 9969 | 基因类型: protein coding

关于 MED13

Cytogenetic location: 17q23.2 Genomic coordinates (GRCh38): 17:61,942,605-62,065,278 (from NCBI)

This gene has 6 transcripts (splice variants), 283 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 10.6), testis (RPKM 10.3) and 25 other tissues.

功能概要

该基因编码介体复合体 (也称为 TRAP、SMCC、DRIP 或 ARC) 的一个组分,这是一种转录共激活因子复合体,被认为是几乎所有基因表达所必需的。介体复合物由转录激活因子或核受体募集以诱导基因表达,可能通过与 RNA 聚合酶 II 相互作用并促进转录前起始复合物的形成。该基因的产物被提议与 MED12、细胞周期蛋白 C 和 CDK8 形成一个子复合体,可以负调节介体的反式激活。[RefSeq 提供,2008 年 7 月]

This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]

MED13 基因产物(1)

mRNA Protein Name
NM_005121.3 NP_005112.2 mediator of RNA polymerase II transcription subunit 13
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 nuclear thyroid hormone receptor binding IDA
IDA: 通过直接分析推断
10198638 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12421765 GOA
enables transcription coactivator activity IDA
IDA: 通过直接分析推断
12218053 GOA
enables transcription coregulator activity IDA
IDA: 通过直接分析推断
10198638 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
10198638 GOA
involved in positive regulation of transcription initiation by RNA polymerase II IDA
IDA: 通过直接分析推断
12218053 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of CKM complex IPI
IPI: 通过物理相互作用推断
19047373 GOA
part of mediator complex IDA
IDA: 通过直接分析推断
10198638 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10235267 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

MED13 蛋白结构

Med13_N

Med13_N: Mediator complex subunit 13 N-terminal (11 - 384)

Med13_C

Med13_C: Mediator complex subunit 13 C-terminal (1640 - 2165)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2174 a.a.
蛋白主名 其他名称

mediator of RNA polymerase II transcription subunit 13

activator-recruited cofactor 250 kDa component

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 61

MRD61

Mental Retardation, Autosomal Dominant 61

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Opitz-Kaveggia Syndrome

Fg Syndrome

Fgs1

Fgs

Keller Syndrome

OKS

Fg Syndrome 1

Fg Syndrome Type 1

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Ohdo Syndrome

Young Simpson Syndrome

Ohdo Blepharophimosis Syndrome

Blepharophimosis Syndrome Ohdo Type

Blepharophimosis Intellectual Disability Syndromes

Bmrs

Blepharophimosis-Intellectual Disability Syndrome

Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth

Sbbys Syndrome

Say Barber Biesecker Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

Bmrs, Ohdo Type

Blepharophimosis Syndrome, Ohdo Type

Ohdo-Madokoro-Sonoda Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

Blepharophimosis - Intellectual Disability Syndrome

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

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

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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
Bos taurus MED13 VGNC VGNC:31350
Canis familiaris MED13 VGNC VGNC:43122
Rattus norvegicus MED13 RGD RGD:1304829
Macaca mulatta MED13 VGNC VGNC:74554
Mus musculus MED13 MGD MGI:3029632
Felis catus MED13 VGNC VGNC:63433