LRPPRC - leucine rich pentatricopeptide repeat containing Gene

中文名称：含富亮氨酸的三角五肽重复序列

种属: Homo sapiens

同用名: LSFC; GP130; LRP130; MC4DN5; CLONE-23970

基因 ID: 10128 | 基因类型: protein coding

关于 LRPPRC

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:43,886,224-43,996,265 (from NCBI)

This gene has 71 transcripts (splice variants), 152 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 30.9), colon (RPKM 26.0) and 25 other tissues.

功能概要

该基因编码一种富含亮氨酸的蛋白质，该蛋白质具有多个三角五肽重复序列 (PPR) 。这种蛋白质的确切作用尚不清楚，但研究表明它可能在细胞骨架组织、囊泡运输或核基因和线粒体基因的转录调节中发挥作用。该蛋白主要定位于线粒体，预计具有 N 端线粒体靶向序列。该基因的突变与法裔加拿大人的 Leigh 综合征有关。[RefSeq 提供，2012 年 3 月]

This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]

LRPPRC 基因产物(1)

mRNA	Protein	Name
NM_133259.4	NP_573566.2	leucine-rich PPR motif-containing protein, mitochondrial precursor

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
NOT enables actin filament binding	IDA IDA: 通过直接分析推断	12762840	GOA
enables beta-tubulin binding	IDA IDA: 通过直接分析推断	12762840	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15161933	GOA
enables ubiquitin protein ligase binding	IPI IPI: 通过物理相互作用推断	19725078	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in condensed nuclear chromosome	IDA IDA: 通过直接分析推断	12762840	GOA
located in cytoskeleton	IDA IDA: 通过直接分析推断	12762840	GOA
located in microtubule	IDA IDA: 通过直接分析推断	21525035	GOA
located in mitochondrial nucleoid	IDA IDA: 通过直接分析推断	18063578	GOA
colocalizes with mitochondrion	IDA IDA: 通过直接分析推断	12762840	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	12832482	GOA
located in nucleus	IDA IDA: 通过直接分析推断	12762840	GOA
located in perinuclear region of cytoplasm	IDA IDA: 通过直接分析推断	12762840	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

LRPPRC 蛋白结构

PPR

PPR_3

PPR

0
300
600
900
1200
1394 a.a.

蛋白主名

其他名称

leucine-rich PPR motif-containing protein, mitochondrial

130 kDa leucine-rich protein

LRPPRC 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	LRPPRC	P42704	SLIRP	Homo sapiens	Q9GZT3	Anti Tag CoIP	26496610
种属内	LRPPRC	P42704	SLIRP	Homo sapiens	Q9GZT3	Anti Tag CoIP	22045337
种属内	LRPPRC	P42704	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
种属内	LRPPRC	P42704	EIF4E	Homo sapiens	P06730	Anti Bait CoIP	19262567
种属内	LRPPRC	P42704	APP	Homo sapiens	P05067	PLA	25959826
种属内	LRPPRC	P42704	APP	Homo sapiens	P05067	Anti Bait CoIP	25959826

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

Mitochondrial Complex Iv Deficiency, Nuclear Type 5

Leigh Syndrome, French Canadian Type	Mitochondrial Complex V Deficiency Nuclear Type 4
Cytochrome C Oxidase Deficiency, French Canadian Type	Lsfc
Cox Deficiency, French Canadian Type	MC5DN4
MC4DN5	Cox Deficiency, Saguenay-Lac-Saint-Jean Type
Leigh Syndrome, Saguenay-Lac-Saint-Jean Type	Mitochondrial Complex V Deficiency, Nuclear Type 4
French Canadian Leigh Disease	Leigh Syndrome, French-Canadian Type
Leigh Syndrome , French Canadian Type	Mitochondrial Complex V Deficiency, Atp5a1 Type
French Canadian Type Cox Deficiency	French Canadian Type Cytochrome C Oxidase Deficiency
French Canadian Type Leigh Syndrome	Saguenay Lac Saint Jean Type Cox Deficiency
Saguenay Lac Saint Jean Type Leigh Syndrome	Cox Deficiency, Saguenay Lac Saint Jean Type
Leigh Syndrome, Saguenay Lac Saint Jean Type	Mitochondrial Complex V Deficiency, Nuclear Type 4
Mitochondrial Complex V Deficiency Atp5a1 Type	Mitochondrial Complex V Deficiency Type 4
Mitochondrial Complex V Deficiency, Nuclear, Type 4

Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type

Cox Deficiency, French-Canadian Type	Cytochrome C Oxidase Deficiency, French-Canadian Type
Cytochrome Oxidase Deficiency, Saguenay-Lac-Saint-Jean Type	Leigh Syndrome, French-Canadian Type
Leigh Syndrome, Saguenay-Lac-Saint-Jean Type	Slsj-Cox Deficiency

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

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

Metabolic Acidosis

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

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

Spastic Ataxia

Spax	Ataxia, Spastic

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-168519	STAT3-IN-36	Inhibitor	/	否
HY-RS07804	LRPPRC Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	LRPPRC	VGNC	VGNC:30996
Felis catus	LRPPRC	VGNC	VGNC:81115
Rattus norvegicus	LRPPRC	RGD	RGD:1306575
Canis familiaris	LRPPRC	VGNC	VGNC:42781
Mus musculus	LRPPRC	MGD	MGI:1919666
Macaca mulatta	LRPPRC	VGNC	VGNC:82177

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