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LRPPRC - leucine rich pentatricopeptide repeat containing Gene

Also Known as LSFC; GP130; LRP130; MC4DN5; CLONE-23970

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10128

About 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.

Summary

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 Products (1)

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables actin filament binding	IDA IDA: Inferred from direct assay	12762840	GOA
enables beta-tubulin binding	IDA IDA: Inferred from direct assay	12762840	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15161933	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	19725078	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in condensed nuclear chromosome	IDA IDA: Inferred from direct assay	12762840	GOA
located in cytoskeleton	IDA IDA: Inferred from direct assay	12762840	GOA
located in microtubule	IDA IDA: Inferred from direct assay	21525035	GOA
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	18063578	GOA
colocalizes with mitochondrion	IDA IDA: Inferred from direct assay	12762840	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	12832482	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12762840	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	12762840	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRPPRC Protein Structure

PPR

PPR_3

PPR

0
300
600
900
1200
1394 a.a.

Protein Preferred Names	Protein Names
leucine-rich PPR motif-containing protein, mitochondrial	130 kDa leucine-rich protein

LRPPRC Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LRPPRC	P42704	SLIRP	Homo sapiens	Q9GZT3	Anti Tag CoIP	26496610
Intra	LRPPRC	P42704	SLIRP	Homo sapiens	Q9GZT3	Anti Tag CoIP	22045337
Intra	LRPPRC	P42704	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
Intra	LRPPRC	P42704	EIF4E	Homo sapiens	P06730	Anti Bait CoIP	19262567
Intra	LRPPRC	P42704	APP	Homo sapiens	P05067	PLA	25959826
Intra	LRPPRC	P42704	APP	Homo sapiens	P05067	Anti Bait CoIP	25959826

Cross: Cross-species interaction Intra: Intraspecies interaction

LRPPRC Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811268	LRP130 Antibody	WB, IHC-P, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-168519	STAT3-IN-36	Inhibitor	/	Unkown
HY-181098	FKA-9i		/	Unkown
HY-RS07804	LRPPRC Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20563	Lrpprc Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27072	Lrpprc Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	LRPPRC	NCBI