2. Gene
  3. MRM3 - mitochondrial rRNA methyltransferase 3 Gene

MRM3 - mitochondrial rRNA methyltransferase 3 Gene

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

中文名称：线粒体 rRNA 甲基转移酶 3

种属: Homo sapiens

同用名: RMTL1; RNMTL1

基因 ID: 55178 | 基因类型: protein coding

关于 MRM3

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:782,353-792,509 (from NCBI)

This gene has 4 transcripts (splice variants), 132 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 12.8), bone marrow (RPKM 6.8) and 25 other tissues.

功能概要

线粒体衍生转录物的有效翻译需要正确组装线粒体核糖体的大亚基。这个大亚基的生物发生的核心是线粒体 16S rRNA 的 A 环，它被位于 mtDNA 类核附近的三个 rRNA 甲基转移酶修饰。由该基因编码的蛋白质甲基化 16S rRNA 的 G (1370) ，这种修饰对于正确的核糖体大亚基组装是必需的。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2015 年 12 月]

Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

MRM3 基因产物(2)

mRNA Protein Name
NM_001317947.2 NP_001304876.1 rRNA methyltransferase 3, mitochondrial isoform 2
NM_018146.4 NP_060616.1 rRNA methyltransferase 3, mitochondrial isoform 1 precursor
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 identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables rRNA (guanosine-2'-O-)-methyltransferase activity EXP
EXP: 通过实验结果推断
24036117 GOA
enables rRNA (guanosine-2'-O-)-methyltransferase activity IMP
IMP: 通过突变表型推断
35177605 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

MRM3 蛋白结构

SpoU_sub_bind

SpoU_sub_bind: RNA 2'-O ribose methyltransferase substrate binding (124 - 194)

SpoU_methylase

SpoU_methylase: SpoU rRNA Methylase family (210 - 400)

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

rRNA methyltransferase 3, mitochondrial

16S rRNA (guanosine(1370)-2'-O)-methyltransferase

MRM3 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
Intra MRM3 Q9HC36 FHL3 Homo sapiens Q13643
Y2H Array
32296183
Intra MRM3 Q9HC36 FHL3 Homo sapiens Q13643
Y2H Prey Pooling
32296183
Intra MRM3 Q9HC36 AIG1 Homo sapiens Q9NVV5-2
Validated Y2H
32296183
Intra MRM3 Q9HC36 UBIAD1 Homo sapiens Q9Y5Z9
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
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

MCC1D

Mccd Type 1

Mcc1 Deficiency

Methylcrotonylglycinuria Type I

3-Methylcrotonylglycinuria I

3-Methylcrotonoyl-Coa Carboxylase 1 Deficiency

3-Methylcrotonylglycinuria Type I

Mcgi

3 Methylcrotonyl-Coa Carboxylase 1 Deficiency

3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Raynaud-Claes Syndrome

Mrx49

MRXSRC

Mental Retardation, X-Linked 49

Mrx15

Clcn4-Related X-Linked Intellectual Disability Syndrome

Mental Retardation, X-Linked 15

X-Linked Mental Retardation 15

X-Linked Mental Retardation 49

Mental Retardation, X-Linked-49
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-RS08657 MRM3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus MRM3 VGNC VGNC:63583
Mus musculus MRM3 MGD MGI:1914640
Macaca mulatta MRM3 VGNC VGNC:104632
Rattus norvegicus MRM3 RGD RGD:1309077
Bos taurus MRM3 VGNC VGNC:31607
Canis familiaris MRM3 VGNC VGNC:43368
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