LRPPRC (leucine rich pentatricopeptide repeat containing)

2011-06-01  

Identity

HGNC
LOCATION
2p21
LOCUSID
ALIAS
CLONE-23970,GP130,LRP130,LSFC,MC4DN5
FUSION GENES

Other Information

Locus ID:

NCBI: 10128
MIM: 607544
HGNC: 15714
Ensembl: ENSG00000138095

Variants:

dbSNP: 10128
ClinVar: 10128
TCGA: ENSG00000138095
COSMIC: LRPPRC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138095ENST00000260665P42704
ENSG00000138095ENST00000260665E5KNY5
ENSG00000138095ENST00000409659B8ZZ38
ENSG00000138095ENST00000409946A0A0C4DG06
ENSG00000138095ENST00000419884H7C3W8
ENSG00000138095ENST00000447246C9JCA9

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
125295072003Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.201
202002222010LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.102
226615772012LRPPRC/SLIRP suppresses PNPase-mediated mRNA decay and promotes polyadenylation in human mitochondria.66
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
202201402010Mitochondrial and nuclear genomic responses to loss of LRPPRC expression.45
118274652002Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity.33
238782392013Impaired complex IV activity in response to loss of LRPPRC function can be compensated by mitochondrial hyperfusion.28
206335372010LRPPRC is a mitochondrial matrix protein that is conserved in metazoans.27
238221012013Mitochondrion-associated protein LRPPRC suppresses the initiation of basal levels of autophagy via enhancing Bcl-2 stability.27
219710502011LRP130 protein remodels mitochondria and stimulates fatty acid oxidation.25

Citation

Dessen P

LRPPRC (leucine rich pentatricopeptide repeat containing)

Atlas Genet Cytogenet Oncol Haematol. 2011-06-01

Online version: http://atlasgeneticsoncology.org/gene/52241/lrpprc