LRPPRC Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | LRPPRC |
| Official Name | leucine rich pentatricopeptide repeat containing [Source:HGNC Symbol;Acc:HGNC:15714] |
| Ensembl ID | ENSG00000138095 |
| Bio databases IDs | |
| Aliases | leucine rich pentatricopeptide repeat containing |
| Synonyms | 3110001K13Rik, CLONE-23970, GP130, leucine-rich pentatricopeptide repeat containing, leucine-rich PPR-motif containing, Lpprc, LRP130, Lrp157, LSFC, MC4DN5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LRPPRC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- beta-tubulin binding
- PPR repeat
- microtubule binding
- ubiquitin protein ligase binding
- Pentacotripeptide-repeat region of PRORP
- pentatricopeptide repeat domain (PPR motif)
- single-stranded DNA binding
- PPR repeat family
- Pentatricopeptide repeat domain
- protein binding
- RNA binding
- PPR motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- colorectal cancer
- hepatocellular carcinoma
- hereditary disorder
- French-Canadian type Leigh syndrome
- liver cancer
- organismal death
- cardiomyopathy
- insomnia
role in cell
- apoptosis
- proliferation
- expression in
- migration
- binding in
- invasion by
- quantity
- density
- G1/S phase transition
- cellular respiration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- nuclear fraction
- detergent resistant lipid raft fraction
- cytoskeleton
- perinuclear region
- Nucleus
- Mitochondria
- microtubules
- mitochondrial matrix
- mitochondrial nucleoids
- mitochondrial inner membrane
- chromosome
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LRPPRC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- autophagy
- mitochondrion transport along microtubule
- mitochondrial RNA catabolic process
- negative regulation of mitochondrial RNA catabolic process
- mRNA transport
- regulation of mitochondrial translation
Cellular Component
Where in the cell the gene product is active
- nuclear outer membrane
- mitochondrial nucleoid
- microtubule
- nucleoplasm
- condensed nuclear chromosome
- nucleus
- nuclear inner membrane
- cytoskeleton
- perinuclear region of cytoplasm
- mitochondrial matrix
- membrane
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- RNA binding
- ubiquitin protein ligase binding
- protein binding
- beta-tubulin binding
- microtubule binding
- single-stranded DNA binding
- mRNA 3'-UTR binding