| URN | urn:agi-llid:10128 |
|---|---|
| Total Entities | 0 |
| Connectivity | 126 |
| Name | Lrpprc |
| Description | leucine-rich pentatricopeptide repeat containing |
| Notes | 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] |
| GO Molecular Function | microtubule binding |
|---|---|
| actin filament binding | |
| beta-tubulin binding | |
| RNA binding | |
| DNA binding | |
| single-stranded DNA binding |
| GO Cellular Component | membrane |
|---|---|
| nuclear outer membrane | |
| nuclear inner membrane | |
| nucleoplasm | |
| condensed nuclear chromosome | |
| mitochondrial nucleoid | |
| microtubule | |
| ribonucleoprotein complex | |
| cytoplasm | |
| perinuclear region of cytoplasm | |
| mitochondrion | |
| cytoskeleton | |
| nucleus |
| GO Biological Process | regulation of mitochondrial translation |
|---|---|
| mitochondrion transport along microtubule | |
| negative regulation of mitochondrial RNA catabolic process | |
| regulation of transcription, DNA-templated | |
| transcription, DNA-templated | |
| transport | |
| mRNA transport |
| Pathway | mRNA nuclear export pathway |
|---|
| Group | regulation of mitochondrial translation |
|---|---|
| mitochondrion transport along microtubule | |
| negative regulation of mitochondrial RNA catabolic process | |
| regulation of transcription, DNA-templated | |
| transcription, DNA-templated | |
| transport | |
| mRNA transport | |
| microtubule binding | |
| actin filament binding | |
| beta-tubulin binding | |
| RNA binding | |
| DNA binding | |
| single-stranded DNA binding | |
| membrane | |
| nuclear outer membrane | |
| nuclear inner membrane | |
| nucleoplasm | |
| condensed nuclear chromosome | |
| mitochondrial nucleoid | |
| microtubule | |
| ribonucleoprotein complex | |
| cytoplasm | |
| perinuclear region of cytoplasm | |
| mitochondrion | |
| cytoskeleton | |
| nucleus | |
| Disease Genes Identified in Epilepsy Associated with Inherited Errors of Metabolism |
| LocusLink ID | 10128 |
|---|---|
| 72416 | |
| 313867 |
| Cell Localization | Mitochondrion |
|---|---|
| Nucleus | |
| Nucleoplasm | |
| Nucleus inner membrane | |
| Nucleus outer membrane |
| GO ID | 0003723 |
|---|---|
| 0051015 | |
| 0048487 | |
| 0008017 | |
| 0003697 | |
| 0051028 | |
| 0047497 | |
| 0000961 | |
| 0070129 | |
| 0006355 | |
| 0006351 | |
| 0000794 | |
| 0005856 | |
| 0005874 | |
| 0042645 | |
| 0005739 | |
| 0005637 | |
| 0005640 | |
| 0005654 | |
| 0005634 | |
| 0048471 | |
| 0030529 | |
| 0003677 | |
| 0006810 | |
| 0005737 | |
| 0016020 |
| Alias | LSFC |
|---|---|
| GP130 | |
| LRP130 | |
| CLONE-23970 | |
| leucine-rich PPR motif-containing protein, mitochondrial | |
| LRP 130 | |
| 130 kDa leucine-rich protein | |
| leucine-rich PPR-motif containing | |
| mitochondrial leucine-rich PPR motif-containing protein | |
| C76645 | |
| 3110001K13Rik | |
| leucine rich protein LRP130 | |
| Lrp157 | |
| rLRP157 | |
| leucine rich protein 157 | |
| leucine-rich protein 157 | |
| LPR130 | |
| LRPPRC | |
| leucine-rich pentatricopeptide repeat containing | |
| LRPPRC (leucine-rich pentatricopeptide repeat containing) | |
| Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency) | |
| leucine-rich PPR motif containing protein | |
| CLONE 23970 | |
| 3110001K13 |
| Mouse chromosome position | 17 |
|---|
| OMIM ID | 607544 |
|---|---|
| 220111 |
| Rat chromosome position | 6q12 |
|---|
| Hugo ID | 15714 |
|---|
| Human chromosome position | 2p21 |
|---|
| Swiss-Prot Accession | E5KNY5 |
|---|---|
| P42704 | |
| Q6PB66 | |
| Q5SGE0 | |
| Q8K4V0 | |
| Q9CRX4 | |
| A0PJE3 | |
| A8K1V1 | |
| Q53PC0 | |
| Q53QN7 | |
| Q6ZUD8 | |
| Q7Z7A6 | |
| Q96D84 |
| PIR ID | S27954 |
|---|
| Unigene ID | Hs.368084 |
|---|---|
| Mm.217027 | |
| Rn.92051 |
| KEGG ID | hsa:10128 |
|---|---|
| mmu:72416 | |
| rno:313867 |
| Swiss-Prot ID | LPPRC_MOUSE |
|---|---|
| LPPRC_RAT | |
| LPPRC_HUMAN |
| Ensembl ID | ENSG00000138095 |
|---|---|
| ENSP00000260665 | |
| ENST00000260665 | |
| ENSMUSG00000024120 | |
| ENSMUSP00000107927 | |
| ENSMUST00000112308 | |
| ENSRNOG00000005877 | |
| ENSRNOP00000008200 | |
| ENSRNOT00000008200 |
| Homologene ID | 32695 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 1919666 |
|---|
| RGD ID | 1306575 |
|---|
| MedScan ID | 10128 |
|---|