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  2. GTF3A - general transcription factor IIIA Gene

GTF3A - general transcription factor IIIA Gene

中文名称:一般转录因子 IIIA

种属: Homo sapiens

同用名: AP2; TFIIIA

基因 ID: 2971 | 基因类型: protein coding

关于 GTF3A

Cytogenetic location: 13q12.2 Genomic coordinates (GRCh38): 13:27,424,619-27,435,823 (from NCBI)

This gene has 8 transcripts (splice variants), 275 orthologues and 6 paralogues. Ubiquitous expression in fat (RPKM 54.8), heart (RPKM 50.8) and 25 other tissues.

功能概要

该基因的产物是具有九个 Cis[2]-His[2] 锌指结构域的锌指蛋白。它充当 RNA 聚合酶 III 转录因子,以诱导 5S rRNA 基因的转录。该蛋白质与 5S 基因中称为内部控制区 (ICR) 的 50 bp 内部启动子结合,并使稳定的预起始复合物成核形成。该复合物募集 TFIIIC 和 TFIIIB 转录因子以及 RNA 聚合酶 III 以形成完整的转录复合物。根据序列分析、蛋白质同源性和纯化蛋白质的大小,该蛋白质被认为是使用哺乳动物中的非 AUG 翻译起始位点翻译的。[RefSeq 提供,2008 年 7 月]

The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008]

GTF3A 基因产物(1)

mRNA Protein Name
NM_002097.3 NP_002088.2 transcription factor IIIA
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 5S rRNA binding IDA
IDA: 通过直接分析推断
24120868 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ribosomal large subunit biogenesis IMP
IMP: 通过突变表型推断
24120868 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

GTF3A 蛋白结构

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (57 - 81)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (86 - 113)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (162 - 186)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (189 - 213)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (219 - 239)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (247 - 271)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (277 - 301)

  • 0
  • 100
  • 200
  • 300
  • 365 a.a.
蛋白主名 其他名称

transcription factor IIIA

关联疾病

疾病名称 别名
Stocco Dos Santos Type X-Linked Intellectual Disability

X-Linked Intellectual Disability, Stocco Dos Santos Type

Stocco Dos Santos Syndrome

Sdsx

Stocco Dos Santos X-Linked Mental Retardation Syndrome

Thrombasthenia
Non-Syndromic X-Linked Intellectual Disability 89

Mrx89

Open-Angle Glaucoma

Glaucoma Simplex

Pigmentary Glaucoma

Wide-Angle Glaucoma

Glaucoma, Open-Angle

Open Angle Glaucoma

Glaucoma Open-Angle

Chronic Simple Glaucoma

Coag - [Chronic Open-Angle Glaucoma]

Csg - [Chronic Simple Glaucoma]

Poag - [Primary Open-Angle Glaucoma]

Oag - [Open-Angle Glaucoma]

Chronic Glaucoma

Chronic Open Angle Glaucoma

Simple Glaucoma

Chronic Noncongestive Glaucoma

Ltg - [Low Tension Glaucoma]

Noncongestive Glaucoma

Nonobstructive Glaucoma

Normal Pressure Glaucoma

Primary Low Tension Glaucoma

Low-Tension Glaucoma

Residual Stage Low Tension Glaucoma

Open Cleft Glaucoma

Mental Retardation, X-Linked 92

MRX92

Intellectual Developmental Disorder, X-Linked 92

Non-Syndromic X-Linked Intellectual Disability 92

X-Linked Mental Retardation 92

Mental Retardation, X-Linked, Type 92

Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome

DGS

Hypoplasia Of Thymus And Parathyroids

Third And Fourth Pharyngeal Pouch Syndrome

22q11.2 Deletion Syndrome

Digeorge Sequence

Digeorge'S Syndrome

Pharyngeal Pouch Syndrome

Di-George Syndrome

Shprintzen Syndrome

Cerebellofaciodental Syndrome

Cerebellar-Facial-Dental Syndrome

CFDS

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
Macaca mulatta GTF3A VGNC VGNC:73315
Canis familiaris GTF3A VGNC VGNC:58304
Mus musculus GTF3A MGD MGI:1913846
Bos taurus GTF3A VGNC VGNC:29701
Rattus norvegicus GTF3A RGD RGD:619746
Felis catus GTF3A VGNC VGNC:102220