TFB1M - transcription factor B1, mitochondrial Gene

中文名称：转录因子 B1，线粒体

种属: Homo sapiens

同用名: CGI75; mtTFB; CGI-75; mtTFB1

基因 ID: 51106 | 基因类型: protein coding

关于 TFB1M

Cytogenetic location: 6q25.3 Genomic coordinates (GRCh38): 6:155,229,871-155,314,484 (from NCBI)

This gene has 9 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 2.2), adrenal (RPKM 1.8) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种二甲基转移酶，可使线粒体 12S rRNA 的保守茎环甲基化。编码的蛋白质也是基础线粒体转录复合物的一部分，是线粒体基因表达所必需的。该蛋白质的甲基化和转录活性相互独立。该基因的变异可能会影响氨基糖苷类药物引起的耳聋 (AID) 的严重程度。[RefSeq 提供，2010 年 8 月]

The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010]

TFB1M 基因产物(3)

mRNA	Protein	Name
NM_001350501.2	NP_001337430.1	dimethyladenosine transferase 1, mitochondrial isoform 2
NM_001350502.2	NP_001337431.1	dimethyladenosine transferase 1, mitochondrial isoform 3
NM_016020.4	NP_057104.2	dimethyladenosine transferase 1, mitochondrial isoform 1

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 S-adenosyl-L-methionine binding	IDA IDA: 通过直接分析推断	31251801	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12897151	GOA
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	EXP EXP: 通过实验结果推断	12496758	GOA
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	IDA IDA: 通过直接分析推断	31251801	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in rRNA methylation	IDA IDA: 通过直接分析推断	31251801	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial nucleoid	IDA IDA: 通过直接分析推断	18063578	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

TFB1M 蛋白结构

RrnaAD

0
100
200
300
346 a.a.

蛋白主名

其他名称

dimethyladenosine transferase 1, mitochondrial

S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1

关联疾病

疾病名称

别名

Deafness, Nonsyndromic Sensorineural, Mitochondrial

Mitochondrial Non-Syndromic Sensorineural Hearing Loss	Mitochondrial Nonsyndromic Sensorineural Deafness
Mitochondrial Non-Syndromic Sensorineural Deafness	Isolated Mitochondrial Neurosensory Deafness
Isolated Mitochondrial Neurosensory Hearing Loss	Isolated Mitochondrial Sensorineural Deafness
Isolated Mitochondrial Sensorineural Hearing Loss	Mitochondrial Non-Syndromic Neurosensory Deafness
Mitochondrial Non-Syndromic Neurosensory Hearing Loss	Deafness, Sensorineural, Mitochondrial
DFNM

Mitochondrial Dna Depletion Syndrome 8a

Mitochondrial Dna Depletion Syndrome 8b	MTDPS8A
Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy
Mtdna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related	Rrm2b-Related Mitochondrial Dna Depletion Syndrome
Encephalomyopathic Type With Renal Tubulopathy	Rrm2b-Mds
Encephalomyopathic Mitochondrial Depletion Syndrome With Renal Tubulopathy	Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type With Renal Tubulopathy
Mitochondrial Dna Depletion Syndrome Encephalomyopathic With Renal Tubulopathy Autosomal Recessive	MTDPS8B
Mitochondrial Dna Depletion Syndrome 8b Mngie Type	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related
Mngie Rrm2b-Related	Visceral Myopathy Familial External Ophthalmoplegia
Mitochondrial Dna Depletion Syndrome, Type 8a

Drug-Induced Hearing Loss

Drug Induced Hearing Loss

Deafness, Aminoglycoside-Induced

Streptomycin Ototoxicity	Deafness, Mitochondrial, Modifier Of
Aminoglycoside-Induced Deafness	Deafness, Streptomycin-Induced
Streptomycin-Induced Deafness	DFNI

Mitochondrial Dna Depletion Syndrome 11

MTDPS11	Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Mitochondrial Dna Maintenance Syndrome Due To Mgme1 Deficiency	Peo-Myopathy-Emaciation Syndrome
Mtdna Maintenance Syndrome Due To Mgme1 Deficiency	Mitochondrial Dna Depletion Syndrome, Type 11

Mitochondrial Dna Depletion Syndrome 14

MTDPS14	Mitochondrial Dna Depletion Syndrome 14, Cardioencephalomyopathic Type
Mitochondrial Dna Depletion Syndrome, Type 14

Neuropathy, Hereditary Sensory, Type Ie

HSN1E	Hsn Ie
Hereditary Sensory Neuropathy Type 1e	Hereditary Sensory Neuropathy Type Ie
Hsan 1	Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia
Hereditary Sensory Neuropathy Type 1	Hsn1
Hereditary Sensory And Autonomic Neuropathy Type 1	Neuropathy Hereditary Sensory And Autonomic Type 1
Neuropathy Hereditary Sensory Radicular, Autosomal Dominant	Neuropathy, Hereditary Sensory, 1e
Neuropathy Hereditary Sensory With Hearing Loss And Dementia	Neuropathy, Hereditary Sensory, Type I
Neuropathy, Sensory, Hereditary, Type Ie	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory Autonomic Neuropathy, Type 1

Mitochondrial Dna Depletion Syndrome 1

MTDPS1	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related
Myoneurogastrointestinal Encephalopathy Syndrome	Polip Syndrome
Mitochondrial Dna Depletion Syndrome, Type 1	Mngie, Tymp-Related
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction	Mitochondrial Dna Depletion Syndrome 1, Mngie Type
Mitochondrial Neurogastrointestinal Encephalomyopathy	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related
Myoneurogastrointestinal Encephalomyopathy	Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome	Mngie Syndrome
Thymidine Phosphorylase Deficiency	MTDPS4B
Mitochondrial Neurogastrointestinal Encephalopathy Disease	Mngie
Myoneurogastrointestinal Encephalopathy Syndrome	Ogimd
Oculogastrointestinal Muscular Dystrophy	Polip
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related
Mngie, Polg-Related	Mepop
Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction	Mngie Disease
Mitochondrial Dna Depletion Syndrome 4b Mngie Type	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related
Mngie Polg-Related	Mitochondrial Dna Depletion Syndrome, Type 4b
Visceral Myopathy Familial External Ophthalmoplegia

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

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-RS14413	TFB1M Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	TFB1M	VGNC	VGNC:47288
Mus musculus	TFB1M	MGD	MGI:2146851
Felis catus	TFB1M	VGNC	VGNC:102535
Rattus norvegicus	TFB1M	RGD	RGD:727795
Bos taurus	TFB1M	VGNC	VGNC:35782
Macaca mulatta	TFB1M	VGNC	VGNC:78398

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2024 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

TFB1M - transcription factor B1, mitochondrial Gene

关于 TFB1M

功能概要

TFB1M 基因产物(3)

TFB1M 蛋白结构

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

TFB1M - transcription factor B1, mitochondrial Gene

关于 TFB1M

功能概要

TFB1M 基因产物(3)

TFB1M 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z