2. Gene
  3. MRPS34 - mitochondrial ribosomal protein S34 Gene

MRPS34 - mitochondrial ribosomal protein S34 Gene

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

中文名称：线粒体核糖体蛋白 S34

种属: Homo sapiens

同用名: MRPS12; COXPD32; MRP-S12; MRP-S34

基因 ID: 65993 | 基因类型: protein coding

关于 MRPS34

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,771,895-1,773,134 (from NCBI)

This gene has 3 transcripts (splice variants), 183 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 21.5), colon (RPKM 19.8) 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。该基因编码一个 28S 亚基蛋白。可变剪接导致多个转录本变体。[RefSeq 提供，2014 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 28S subunit protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

MRPS34 基因产物(2)

mRNA Protein Name
NM_001300900.2 NP_001287829.1 28S ribosomal protein S34, mitochondrial isoform 1
NM_023936.2 NP_076425.1 28S ribosomal protein S34, mitochondrial isoform 2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables structural constituent of ribosome IMP
IMP: 通过突变表型推断
28777931 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial translation IMP
IMP: 通过突变表型推断
28777931 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
蛋白主名 其他名称

28S ribosomal protein S34, mitochondrial

S34mt

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 32

COXPD32
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
Combined Oxidative Phosphorylation Deficiency
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
Gm1-Gangliosidosis, Type Iii

Gm1 Gangliosidosis Type 3

GM1G3

Gangliosidosis, Generalized Gm1, Type 3

Adult-Onset Gm1 Gangliosidosis

Gangliosidosis Gm1 Type 3

Gangliosidosis Generalized Gm1 Chronic Type

Gangliosidosis, Generalized Gm1, Adult Type

Gangliosidosis, Generalized Gm1, Chronic Type

Gangliosidosis, Generalized Gm1, Type Iii

Adult Gm1 Gangliosidosis

Beta-Galactosidase Deficiency Type 3

Gm1-Gangliosidosis 3

Gangliosidosis Generalized Gm1 Type 3

Gm1-Gangliosidosis Generalized Adult Type

Gangliosidosis, Gm1 Type Iii
Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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-RS08686 MRPS34 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 MRPS34 VGNC VGNC:43422
Rattus norvegicus MRPS34 RGD RGD:1305623
Bos taurus MRPS34 VGNC VGNC:31672
Mus musculus MRPS34 MGD MGI:1930188
Macaca mulatta MRPS34 VGNC VGNC:74776
Felis catus MRPS34 VGNC VGNC:63624
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