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  2. TTF1 - transcription termination factor 1 Gene

TTF1 - transcription termination factor 1 Gene

中文名称:转录终止因子 1

种属: Homo sapiens

同用名: TTF-1; TTF-I

基因 ID: 7270 | 基因类型: protein coding

关于 TTF1

Cytogenetic location: 9q34.13 Genomic coordinates (GRCh38): 9:132,375,548-132,406,840 (from NCBI)

This gene has 3 transcripts (splice variants), 213 orthologues and 6 paralogues. Ubiquitous expression in thyroid (RPKM 5.3), testis (RPKM 4.8) and 25 other tissues.

功能概要

该基因编码一个转录终止因子,该因子定位于核仁,在核糖体基因转录中起着关键作用。编码的蛋白质通过结合前 rRNA 编码区下游的 Sal 盒终止子元件来介导 RNA 聚合酶 I 转录的终止。已经观察到该基因编码多种亚型的可变剪接转录物变体。该基因与另一个基因 NK2 同源框 1 (也称为甲状腺转录因子 1) 共享符号/别名“TFF1”,它在甲状腺特异性基因表达的调节中发挥作用。[RefSeq 提供,2011 年 4 月]

This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias 'TFF1' with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression. [provided by RefSeq, Apr 2011]

TTF1 基因产物(2)

mRNA Protein Name
NM_001205296.2 NP_001192225.1 transcription termination factor 1 isoform 2
NM_007344.4 NP_031370.2 transcription termination factor 1 isoform 1

TTF1 蛋白结构

Myb_DNA-bind_6

Myb_DNA-bind_6: Myb-like DNA-binding domain (621 - 677)

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  • 905 a.a.
蛋白主名 其他名称

transcription termination factor 1

transcription termination factor, RNA polymerase I

关联疾病

疾病名称 别名
Cervical Carcinosarcoma

Cervical Malignant Mixed Mesodermal Mullerian Tumor

Cervical Malignant Mixed Mullerian Tumor

Cervical Mixed Epithelial And Mesenchymal Neoplasm

Blastoma

Embryoma

Chordoid Glioma

Chordoid Glioma Of The Third Ventricle

Smarca4-Deficient Sarcoma Of Thorax

Smarca4-Dts

Smarca4-Deficient Thoracic Sarcoma

Pulmonary Blastoma

Blastoma Of Lung

Pneumoblastoma

Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

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
Rattus norvegicus TTF1 RGD RGD:1565673
Bos taurus TTF1 VGNC VGNC:36483
Canis familiaris TTF1 VGNC VGNC:47967
Macaca mulatta TTF1 VGNC VGNC:78669
Mus musculus TTF1 MGD MGI:105044
Felis catus TTF1 VGNC VGNC:103003