InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LRPPRC

Summary

InnateDB Protein

IDBP-49389.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LRPPRC

Protein Name

leucine-rich PPR-motif containing

Synonyms

CLONE-23970; GP130; LRP130; LSFC;

Species

Homo sapiens

Ensembl Protein

ENSP00000260665

InnateDB Gene

IDBG-49387 (LRPPRC)

Protein Structure

UniProt Annotation

Function

May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA (By similarity). {ECO:0000250}.

Subcellular Localization

Mitochondrion. Nucleus, nucleoplasm. Nucleus inner membrane. Nucleus outer membrane. Note=Seems to be predominantly mitochondrial.

Disease Associations

Leigh syndrome French-Canadian type (LSFC) [MIM:220111]: Severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. In the Saguenay-Lac Saint Jean region of Quebec province in Canada, a biochemically distinct form of Leigh syndrome with COX deficiency has been described. Patients have been observed to have a developmental delay, hypotonia, mild facial dysmorphism, chronic well-compensated metabolic acidosis, and high mortality due to episodes of severe acidosis and coma. Enzyme activity was close to normal in kidney and heart, 50% of normal in fibroblasts and skeletal muscle, and nearly absent in brain and liver. LSFC patients show reduced (<30%) levels of LRPPRC in both fibroblast and liver mitochondria and a specifically reduced translation of COX subunits MT-CO1/COXI and MT-CO3 (COXIII). {ECO:0000269PubMed:12529507}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed ubiquitously. Expression is highest in heart, skeletal muscle, kidney and liver, intermediate in brain, non-mucosal colon, spleen and placenta, and lowest in small intestine, thymus, lung and peripheral blood leukocytes. {ECO:0000269PubMed:11827465, ECO:0000269PubMed:15139850}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 79 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	79 [view]
Protein-Protein	79 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003697	single-stranded DNA binding
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0008017	microtubule binding
GO:0044822	poly(A) RNA binding
GO:0048487	beta-tubulin binding

Biological Process

GO:0000961	negative regulation of mitochondrial RNA catabolic process
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0047497	mitochondrion transport along microtubule
GO:0051028	mRNA transport
GO:0070129	regulation of mitochondrial translation

Cellular Component

GO:0000794	condensed nuclear chromosome
GO:0005634	nucleus
GO:0005637	nuclear inner membrane
GO:0005640	nuclear outer membrane
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005856	cytoskeleton
GO:0005874	microtubule
GO:0016020	membrane
GO:0030529	ribonucleoprotein complex
GO:0042645	mitochondrial nucleoid
GO:0048471	perinuclear region of cytoplasm