1. Gene
  2. MRPL12 - mitochondrial ribosomal protein L12 Gene

MRPL12 - mitochondrial ribosomal protein L12 Gene

中文名称:线粒体核糖体蛋白 L12

种属: Homo sapiens

同用名: 5c5-2; L12mt; MRPL7; RPML12; MRPL7/L12; MRP-L31/34

基因 ID: 6182 | 基因类型: protein coding

关于 MRPL12

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,703,367-81,707,517 (from NCBI)

This gene has 1 transcript (splice variant), 182 orthologues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 31.4), heart (RPKM 25.0) and 25 other tissues.

功能概要

哺乳动物线粒体核糖体蛋白由核基因编码,有助于线粒体内的蛋白质合成。线粒体核糖体 (线粒体核糖体) 由一个小的 28S 亚基和一个大的 39S 亚基组成。与原核核糖体相比,它们估计有 75% 的蛋白质与 rRNA 组成,而原核核糖体的比例是相反的。哺乳动物 线粒体核糖体 和原核核糖体之间的另一个区别是后者包含 5S rRNA。在不同的物种中,构成核糖体的蛋白质在序列上有很大差异,有时在生化特性上也有很大差异,这使得序列同源性难以识别。该基因编码形成同型二聚体的 39S 亚基蛋白。在原核核糖体中,两个 L7/L12 二聚体和一个 L10 蛋白形成 L8 蛋白复合物。[RefSeq 提供,2008 年 7 月]

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008]

MRPL12 基因产物(1)

mRNA Protein Name
NM_002949.4 NP_002940.2 39S ribosomal protein L12, mitochondrial
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
17337445 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial transcription IDA
IDA: 通过直接分析推断
17337445 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
17337445 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of mitochondrial large ribosomal subunit IDA
IDA: 通过直接分析推断
20186120 GOA
located in mitochondrial matrix IDA
IDA: 通过直接分析推断
27184847 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
17337445 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

MRPL12 蛋白结构

Ribosomal_L12

Ribosomal_L12: Ribosomal protein L7/L12 C-terminal domain (129 - 197)

  • 0
  • 100
  • 198 a.a.
蛋白主名 其他名称

39S ribosomal protein L12, mitochondrial

MRP-L12

MRPL12 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
MRPL12 P52815 TRIM59 Homo sapiens Q8IWR1 32296183
种属内
MRPL12 P52815 MORF4L1 Homo sapiens Q9UBU8-2 32296183
种属内
MRPL12 P52815 NTM Homo sapiens Q9P121-3 32296183
种属内
MRPL12 P52815 EFCAB2 Homo sapiens Q5VUJ9-2 32296183
种属内
MRPL12 P52815 EXOC3L2 Homo sapiens Q2M3D2 32296183
种属内
MRPL12 P52815 POLRMT Homo sapiens O00411 28514442
种属内
MRPL12 P52815 POLRMT Homo sapiens O00411 22003127
种属内
MRPL12 P52815 POLRMT Homo sapiens O00411 22003127
种属内
MRPL12 P52815 POLRMT Homo sapiens O00411 33961781
种属内
MRPL12 P52815 MORF4L2 Homo sapiens Q15014 32296183
种属内
MRPL12 P52815 SEPTIN1 Homo sapiens Q8WYJ6 32296183
种属内
MRPL12 P52815 PPP1R16A Homo sapiens Q96I34 32296183
种属内
MRPL12 P52815 MAPRE3 Homo sapiens Q9UPY8 32296183
种属内
MRPL12 P52815 NTAQ1 Homo sapiens Q96HA8 32296183
种属内
MRPL12 P52815 CBX3 Homo sapiens Q13185 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
Combined Oxidative Phosphorylation Deficiency 45

COXPD45

Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy

Peripheral Neuropathy And Optic Atrophy

Cmt6

Charcot-Marie-Tooth Disease Type 6

Hmsn Vi

HMSN6A

Hmsn Via

Hmsn6

Cmt6a

Charcot-Marie-Tooth Disease, Type 6

Hereditary Motor And Sensory Neuropathy Type 6

Hereditary Motor And Sensory Neuropathy Type Vi

Neuropathy, Hereditary Motor And Sensory, Type 6a

Neuropathy, Hereditary Motor And Sensory, Type Vi

Charcot-Marie-Tooth Disease, Type 6a

Hereditary Motor And Sensory Neuropathy Via

Hmsn 6

Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy

Charcot-Marie-Tooth Disease 6

Charcot-Marie-Tooth Disease 6a

Hereditary Motor And Sensory Neuropathy Type Via

Hereditary Motor And Sensory Neuropathy Vi

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency

Cox Deficiency

Cytochrome-C Oxidase Deficiency Disease

MC1DN4

Cytochrome-C Oxidase Deficiency

MC4DN1

Mitochondrial Complex I Deficiency, Nuclear Type 4

Complex 4 Mitochondrial Respiratory Chain Deficiency

Complex Iv Deficiency

Mitochondrial Complex 1 Deficiency, Nuclear Type 4

Nuclear Type Mitochondrial Complex I Deficiency 4

Deficiency Of Mitochondrial Respiratory Chain Complex4

MT-C4D

Complex Iv Mitochondrial Respiratory Chain Deficiency

Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

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
Rattus norvegicus MRPL12 RGD RGD:1588559
Mus musculus MRPL12 MGD MGI:1926273
Bos taurus MRPL12 VGNC VGNC:106827