1. Gene
  2. BDP1 - B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB Gene

BDP1 - B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB Gene

中文名称:B 双引物 1,RNA 聚合酶 III 转录起始因子 IIIB 的亚基

种属: Homo sapiens

同用名: TFC5; TFNR; TAF3B1; DFNB112; TFIIIB''; TFIIIB90; HSA238520; TFIIIB150

基因 ID: 55814 | 基因类型: protein coding

关于 BDP1

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:71,455,651-71,578,288 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 198 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 5.4), lymph node (RPKM 4.2) and 25 other tissues.

功能概要

该基因的产物是 TFIIIB 转录起始复合物的一个亚基,它募集 RNA 聚合酶 III 到靶启动子以启动转录。编码的蛋白质定位于细胞核中的浓缩聚集体,并且是从所有三种类型的聚合酶 III 启动子转录所必需的。它在有丝分裂期间被酪蛋白激酶 II 磷酸化,导致其从染色质中释放并抑制聚合酶 III 转录。[RefSeq 提供,2008 年 7 月]

The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by Casein Kinase II during Mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]

BDP1 基因产物(1)

mRNA Protein Name
NM_018429.3 NP_060899.2 transcription factor TFIIIB component B'' homolog
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
16542149 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
蛋白主名 其他名称

transcription factor TFIIIB component B'' homolog

RNA polymerase III transcription initiation factor B''

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 112

DFNB112

Autosomal Recessive Nonsyndromic Deafness 112

Autosomal Recessive Deafness 112

Deafness, Autosomal Recessive, 112

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Cerebellofaciodental Syndrome

Cerebellar-Facial-Dental Syndrome

CFDS

Breast Squamous Cell Carcinoma

Breast Primary Squamous Cell Carcinoma

Primary Squamous Cell Carcinoma Of Breast

Primary Squamous Cell Carcinoma Of The Breast

Scc Of Breast

Squamous Cell Carcinoma Of Breast

Squamous Cell Breast Carcinoma

Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism

HLD7

Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome

Addh

Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism

4h Syndrome

4h Leukodystrophy 1

Hypomyelinating Leukodystrophy 7 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism

Hypomyelination-Cerebellar Atrophy-Hypoplasia Of The Corpus Callosum Syndrome

Leukodystrophy With Oligodontia

Tach Syndrome

Tremor-Ataxia-Central Hypomyelination Syndrome

Leukoencephalopathy, Hypomyelinating, With Ataxia And Delayed Dentition

Ataxia, Delayed Dentition, And Hypomyelination

Ataxia-Delayed Dentition-Hypomyelination Syndrome

Odontoleukodystrophy

Dentoleukoencephalopathy

Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome

Ataxia-Delayed Dentition-Hypomyelination Syndrome

Ataxia Delayed Dentition And Hypomyelination

Leukodystrophy Hypomyelinating With Hypodontia And Hypogonadotropic Hypogonadism 4h Syndrome

Leukoencephalopathy Hypomyelinating With Ataxia And Delayed Dentition

Tach

Tremor-Ataxia With Central Hypomyelination

Attention Deficit Hyperactivity Disorder

Leukodystrophy, Dysmyelinating, With Oligodontia

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

Dysequilibrium Syndrome

CAMRQ1

Des

Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

Cerebellar Hypoplasia, Vldlr-Associated

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

Uner Tan Syndrome

Vldlr Cerebellar Hypoplasia

Vldlrch

Vldlr-Associated Cerebellar Hypoplasia

Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

Camrq

Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

Cerebellar Disorder, Nonprogressive, With Intellectual Disability

Cerebellar Hypoplasia, Vldlr Associated

Autosomal Recessive Cerebellar Ataxia With Mental Retardation

Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

Cerebellar Disorder, Nonprogressive, With Mental Retardation

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

Chmrq1

Des-Vldlr

Dysequilibrium Syndrome-Vldlr

Vldlr-Ch

Camrq Syndrome

Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

Uts

Cerebellar Hypoplasia Vldlr-Associated

Dialysis Disequilibrium Syndrome

Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating

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 BDP1 VGNC VGNC:26462
Mus musculus BDP1 MGD MGI:1347077
Felis catus BDP1 VGNC VGNC:82459
Macaca mulatta BDP1 VGNC VGNC:70066
Rattus norvegicus BDP1 RGD RGD:1308512
Canis familiaris BDP1 VGNC VGNC:38426