leucine-rich PPR motif-containing protein, mitochondrial; 130 kD leucine-rich protein; LRP 130; GP130 (LRPPRC, LRP130)

Function: - may play a role in RNA metabolism in both nuclei & mitochondria. - in the nucleus, binds to HNRPA1-associated poly(A)mRNAs & 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 & gluconeogenic genes & may regulate docking of PPARGC1A to transcription factors - seems to be involved in the transcription regulation of the multidrug-related genes MDR1 & MVP - part of a nuclear factor that binds to the invMED1 element of MDR1 & MVP gene promoters - binds single-stranded DNA (putative) - interacts with CECR2, HEBP2, MAP1S & UXT - interacts with PPARGC1A - interacts with FOXO1 (putative) - component of mRNP complexes associated with HNRPA1 Structure: - contains 20 PPR (pentatricopeptide) repeats Compartment: - mitochondria. nucleus, nucleoplasm - nuclear membrane - nuclear inner membrane - nuclear outer membrane - seems to be predominantly mitochondrial Expression: - expressed ubiquitously - expression is highest in heart, skeletal muscle, kidney & liver > brain, non-mucosal colon, spleen & placenta > small intestine, thymus, lung & peripheral blood leukocytes Pathology: - defects in LRPPRC are the cause of Leigh syndrome, French-Canadian type

Properties

SIZE: entity length = 1394 aa MW = 158 kD COMPARTMENT: mitochondria cell nucleus MOTIF: PPR repeat {126-160} PPR repeat {161-195} PPR repeat {196-230} PPR repeat {231-265} PPR repeat {266-300} PPR repeat {301-335} PPR repeat {403-437} PPR repeat {438-472} PPR repeat {678-709} PPR repeat {710-746} PPR repeat {747-784} PPR repeat {785-820} PPR repeat {821-856} PPR repeat {954-988} PPR repeat {1031-1065} PPR repeat {1066-1102} PPR repeat {1103-1137} binding site SITE: 1121-1394 FOR-BINDING-OF: ribonucleic acid MOTIF: PPR repeat {1138-1175} PPR repeat {1176-1210} PPR repeat {1317-1351}

Database Correlations

OMIM correlations MORBIDMAP 607544 UniProt P42704 Pfam PF01535 Entrez Gene 10128 Kegg hsa:10128