BRF1 - BRF1 RNA polymerase III transcription initiation factor subunit Gene

中文名称：BRF1 RNA 聚合酶 III 转录起始因子亚基

种属: Homo sapiens

同用名: BRF; CFDS; hBRF; BRF-1; GTF3B; TAF3C; TAF3B2; TF3B90; TAFIII90; TFIIIB90; HEL-S-76p

基因 ID: 2972 | 基因类型: protein coding

关于 BRF1

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:105,209,286-105,315,589 (from NCBI)

This gene has 21 transcripts (splice variants), 219 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 3.5), brain (RPKM 3.4) and 25 other tissues.

功能概要

该基因编码 RNA 聚合酶 III 转录因子复合物的三个亚基之一。该复合物在 RNA 聚合酶 III 对编码 tRNA、5S rRNA 和其他小结构 RNA 的基因的转录起始中起着核心作用。该基因产物属于 TF2B 家族。已经鉴定出几种编码不同亚型的选择性剪接变体，它们在由 RNA 聚合酶 III 转录的不同启动子上发挥作用。[RefSeq 提供，2011 年 6 月]

This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and Other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]

BRF1 基因产物(7)

mRNA	Protein	Name
NM_001242786.2	NP_001229715.1	transcription factor IIIB 90 kDa subunit isoform 4
NM_001242787.2	NP_001229716.1	transcription factor IIIB 90 kDa subunit isoform 5
NM_001242788.2	NP_001229717.1	transcription factor IIIB 90 kDa subunit isoform 6
NM_001242789.2	NP_001229718.1	transcription factor IIIB 90 kDa subunit isoform 7
NM_001242790.2	NP_001229719.1	transcription factor IIIB 90 kDa subunit isoform 8
NM_001519.4	NP_001510.2	transcription factor IIIB 90 kDa subunit isoform 1
NM_145685.3	NP_663718.1	transcription factor IIIB 90 kDa subunit isoform 3

基因本体论

分子功能

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	16713569	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

BRF1 蛋白结构

TF_Zn_Ribbon

TFIIB

BRF1

0
200
400
600
677 a.a.

蛋白主名

其他名称

transcription factor IIIB 90 kDa subunit

B - related factor 1

关联疾病

疾病名称

别名

Cerebellofaciodental Syndrome

Cerebellar-Facial-Dental Syndrome

CFDS

Inner Ear Disease

Labyrinthine Dysfunction	Diseases Of Inner Ear
Labyrinthine Disease	Abnormality Of The Inner Ear
Labyrinth Diseases	Labyrinthine Disorder
Nonfunctioning Labyrinth	Labyrinthine Loss Of Function
Labyrinthine Syndrome	Labyrinthine Disorder Nos

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Heart, Malformation Of

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01616	BRF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS16041	ZFP36L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS18914	Brf1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS21270	Zfp36l1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS25405	Brf1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	BRF1	MGD	MGI:1919558
Macaca mulatta	BRF1	VGNC	VGNC:84314
Felis catus	BRF1	VGNC	VGNC:60172
Rattus norvegicus	BRF1	RGD	RGD:1311158
Canis familiaris	BRF1	VGNC	VGNC:38523
Bos taurus	BRF1	VGNC	VGNC:26562
Others	BRF1	NCBI

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