2. Gene
  3. MRPL44 - mitochondrial ribosomal protein L44 Gene

MRPL44 - mitochondrial ribosomal protein L44 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 L44

种属: Homo sapiens

同用名: L44MT; COXPD16; MRP-L44

基因 ID: 65080 | 基因类型: protein coding

关于 MRPL44

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:223,950,854-223,967,714 (from NCBI)

This gene has 1 transcript (splice variant), 207 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 7.0), lymph node (RPKM 6.9) 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 39S 亚基蛋白。[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. [provided by RefSeq, Jul 2008]

MRPL44 基因产物(1)

mRNA Protein Name
NM_022915.5 NP_075066.1 39S ribosomal protein L44, 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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial translational elongation IMP
IMP: 通过突变表型推断
23315540 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
25278503 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
28892042 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

39S ribosomal protein L44, mitochondrial

mitochondrial large ribosomal subunit protein mL44

重组 MRPL44 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77090 MRPL44 Protein, Human (sf9, His) Q9H9J2 (M1-S332) ≥95%

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 16

COXPD16

Infantile Hypertrophic Cardiomyopathy Due To Mrpl44 Deficiency

Combined Oxidative Phosphorylation Defect Type 16

Combined Oxidative Phosphorylation Deficiency, Type 16
Combined Oxidative Phosphorylation Deficiency 1

Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1

COXPD1

Early Fatal Progressive Hepatoencephalopathy

Hepatoencephalopathy Due To Coxpd1

Combined Oxidative Phosphorylation Deficiency, Type 1

Hepatoencephalopathy, Early Fatal Progressive

Hepatoencephalopathy Early Fatal Progressive
Dyskinetic Cerebral Palsy

Athetoid Cerebral Palsy

Athetoid Dyskinetic Cerebral Palsy

Cerebral Palsy Athetoid

Cerebral Palsy Dyskinetic

Athetoid Cerebral Paralysis

Dyskinetic Cerebral Paralysis

Vogt Disease

Athetoid Cerebrum Palsy

Double Athetosis Syndrome

État Marbré
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
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis
Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers
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
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-RS08673 MRPL44 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta MRPL44 VGNC VGNC:74779
Rattus norvegicus MRPL44 RGD RGD:1309556
Bos taurus MRPL44 VGNC VGNC:31639
Felis catus MRPL44 VGNC VGNC:63606
Mus musculus MRPL44 MGD MGI:1916413
Canis familiaris MRPL44 VGNC VGNC:43399
Others MRPL44 NCBI
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