2. Gene
  3. FTSJ1 - FtsJ RNA 2'-O-methyltransferase 1 Gene

FTSJ1 - FtsJ RNA 2'-O-methyltransferase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：FtsJ RNA 2'-O-甲基转移酶 1

种属: Homo sapiens

同用名: JM23; MRX9; SPB1; CDLIV; MRX44; TRMT7; XLID9

基因 ID: 24140 | 基因类型: protein coding

关于 FTSJ1

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,476,021-48,486,364 (from NCBI)

This gene has 13 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 9.6), appendix (RPKM 8.4) and 25 other tissues.

功能概要

该基因编码甲基转移酶超家族的一个成员。编码的蛋白质定位于核仁，与 S-腺苷甲硫氨酸结合，并可能参与核糖体 RNA 的加工和修饰。该基因的突变与认知障碍有关。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 8 月]

This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

FTSJ1 基因产物(3)

mRNA Protein Name
NM_001282157.1 NP_001269086.1 putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform c
NM_012280.4 NP_036412.1 putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform a
NM_177439.3 NP_803188.1 putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform b
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
32558197 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase activity EXP
EXP: 通过实验结果推断
25404562 GOA
enables tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase activity IMP
IMP: 通过突变表型推断
26310293 GOA
enables tRNA (guanine) methyltransferase activity IDA
IDA: 通过直接分析推断
32558197 GOA
enables tRNA 2'-O-methyltransferase activity EXP
EXP: 通过实验结果推断
25404562 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cytoplasmic translation IMP
IMP: 通过突变表型推断
32393790 GOA
involved in neurogenesis IDA
IDA: 通过直接分析推断
36720500 GOA
involved in tRNA methylation IGI
IGI: 通过遗传相互作用推断
25404562 GOA
involved in tRNA methylation IMP
IMP: 通过突变表型推断
36720500 GOA
involved in tRNA nucleoside ribose methylation IMP
IMP: 通过突变表型推断
26310293 GOA
involved in wobble position ribose methylation IDA
IDA: 通过直接分析推断
32558197 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
32558197 GOA
located in nucleus IDA
IDA: 通过直接分析推断
32558197 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

FTSJ1 蛋白结构

FtsJ

FtsJ: FtsJ-like methyltransferase (21 - 199)

  • 0
  • 100
  • 200
  • 300
  • 329 a.a.
蛋白主名 其他名称

putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase

2'-O-ribose RNA methyltransferase TRM7 homolog

FTSJ1 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
FTSJ1 Q9UET6 CERT1 Homo sapiens Q9Y5P4-2
Validated Y2H
32296183
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
Intellectual Developmental Disorder, X-Linked 9

XLID9

Mrx9

Mental Retardation, X-Linked 44

Mrx44
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
Non-Syndromic X-Linked Intellectual Disability 9

Mrx44

Mrx9

X-Linked Mental Retardation 44
Chromosome 15q24 Deletion Syndrome

15q24 Microdeletion Syndrome

Del(15)(Q24)

Monosomy 15q24

15q24 Microdeletion

15q24 Deletion

Interstitial Deletion Of Chromosome 15q24
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
Syndromic Intellectual Disability
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05139 FTSJ1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus FTSJ1 VGNC VGNC:62385
Rattus norvegicus FTSJ1 RGD RGD:1561061
Mus musculus FTSJ1 MGD MGI:1859648
Macaca mulatta FTSJ1 VGNC VGNC:72716
Canis familiaris FTSJ1 VGNC VGNC:49604
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z