BUD23 - BUD23 rRNA methyltransferase and ribosome maturation factor Gene

中文名称：BUD23 rRNA 甲基转移酶和核糖体成熟因子

种属: Homo sapiens

同用名: WBMT; MERM1; PP3381; HUSSY-3; WBSCR22; HASJ4442

基因 ID: 114049 | 基因类型: protein coding

关于 BUD23

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,683,597-73,698,212 (from NCBI)

This gene has 18 transcripts (splice variants), 203 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 63.4), thyroid (RPKM 24.2) and 25 other tissues.

功能概要

该基因编码的蛋白质含有核定位信号和典型的甲基转移酶 S-腺苷-L-甲硫氨酸结合基序，表明编码的蛋白质可能作用于 DNA 甲基化。该基因在 Williams 综合征中被删除，这是一种多系统发育障碍，由 7q11.23 的连续基因缺失引起。已经发现选择性剪接的转录本变体。[RefSeq 提供，2011 年 2 月]

This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]

BUD23 基因产物(2)

mRNA	Protein	Name
NM_001202560.3	NP_001189489.1	probable 18S rRNA (guanine-N(7))-methyltransferase isoform 1
NM_017528.5	NP_059998.2	probable 18S rRNA (guanine-N(7))-methyltransferase isoform 2

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 protein binding	IPI IPI: 通过物理相互作用推断	25851604	GOA
enables protein heterodimerization activity	IDA IDA: 通过直接分析推断	25851604	GOA
enables rRNA (guanine) methyltransferase activity	IMP IMP: 通过突变表型推断	25851604	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of rRNA processing	IMP IMP: 通过突变表型推断	25851604	GOA
involved in rRNA (guanine-N7)-methylation	IMP IMP: 通过突变表型推断	25851604	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleoplasm	IDA IDA: 通过直接分析推断	25851604	GOA
located in nucleus	IDA IDA: 通过直接分析推断	34948388	GOA
located in perinuclear region of cytoplasm	IDA IDA: 通过直接分析推断	25851604	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

BUD23 蛋白结构

Methyltransf_11

WBS_methylT

0
100
200
281 a.a.

蛋白主名

其他名称

probable 18S rRNA (guanine-N(7))-methyltransferase

Williams-Beuren candidate region putative methyltransferase

BUD23 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	BUD23	O43709	TRMT112	Homo sapiens	Q9UI30	Anti Tag CoIP	34948388
种属内	BUD23	O43709	TRMT112	Homo sapiens	Q9UI30	Anti Tag CoIP	33961781
种属内	BUD23	O43709	TRMT112	Homo sapiens	Q9UI30	Anti Tag CoIP	28514442
种属内	BUD23	O43709	TRMT112	Homo sapiens	Q9UI30	Validated Y2H	32296183
种属内	BUD23	O43709	TRMT112	Homo sapiens	Q9UI30	Confocal	34948388

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Bowen-Conradi Syndrome

BWCNS	Bowen Hutterite Syndrome
Bowen-Conradi Hutterite Syndrome	Bowen Syndrome, Hutterite Type
Bowen Hutterite Syndrome, Formerly	Hutterite Syndrome
Bowen Syndrome Hutterite Type	Fetal Growth Retardation

Valproate Embryopathy

Fetal Valproate Syndrome	Fetal Valproic Acid Syndrome
Fvs	Valproic Acid Embryopathy
Fetal Valproate Spectrum Disorder	Valproate Embryopathy, Susceptibility To
Foetal Valproate Syndrome	Foetal Valproic Acid Syndrome
Susceptibility To Valproate Embryopathy	Valproic Acid Antenatal Infection

Dubowitz Syndrome

Dubowitz'S Syndrome	Dwarfism-Eczema-Peculiar Facies Syndrome
Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

Williams-Beuren Region Duplication Syndrome

7q11.23 Duplication Syndrome	7q11.23 Microduplication Syndrome
Chromosome 7q11.23 Duplication Syndrome	Wbs Duplication Syndrome
Somerville-Van Der Aa Syndrome	Dup(7)(Q11.23)
Trisomy 7q11.23	William-Beuren Region Duplication Syndrome
Chromosome 7q11.23 Duplication

Supravalvular Aortic Stenosis

SVAS	Supravalvar Aortic Stenosis
Supravalvar Aortic Stenosis, Eisenberg Type	Aortic Supravalvular Stenosis
Aortic Stenosis, Supravalvular	Supra-Valvular Aortic Stenosis
Stenosis, Aortic Supravalvular	Stenosis, Supravalvular Aortic
Supravalvular Stenosis, Aortic	Aortic Stenosis Supravalvular

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-RS01685	BUD23 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	BUD23	VGNC	VGNC:26608
Macaca mulatta	BUD23	VGNC	VGNC:70325
Rattus norvegicus	BUD23	RGD	RGD:1589742
Mus musculus	BUD23	MGD	MGI:1913388
Canis familiaris	BUD23	VGNC	VGNC:103662
Felis catus	BUD23	VGNC	VGNC:60212

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 © 2013-2025 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）

BUD23 - BUD23 rRNA methyltransferase and ribosome maturation factor Gene

关于 BUD23

功能概要

BUD23 基因产物(2)

BUD23 蛋白结构

BUD23 蛋白互作信息

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.

BUD23 - BUD23 rRNA methyltransferase and ribosome maturation factor Gene

关于 BUD23

功能概要

BUD23 基因产物(2)

BUD23 蛋白结构

BUD23 蛋白互作信息

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