RTN4IP1 Gene Summary [Human]
This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this gene can cause optic atrophy 10, with or without ataxia, cognitive disability, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | RTN4IP1 |
| Official Name | reticulon 4 interacting protein 1 [Source:HGNC Symbol;Acc:HGNC:18647] |
| Ensembl ID | ENSG00000130347 |
| Bio databases IDs | |
| Aliases | reticulon 4 interacting protein 1 |
| Synonyms | D10Ertd690e, NIMP, OPA10, reticulon 4 interacting protein 1, RGD1563384 |
| 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 RTN4IP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NADPH2 dehydrogenase (quinone)
- zinc-binding alcohol dehydrogenase family protein
- MDR
- Zinc-binding dehydrogenase
- putative quinone oxidoreductase, YhdH/YhfP family
- enzyme
- protein binding
- Enoylreductase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- early onset hypertension
- optic atrophy 10 with or without ataxia, mental retardation, and seizures
- hereditary disorder
- retinal dystrophy
- optic atrophy type 10 with ataxia, mental retardation, and seizures
- optic atrophy
regulates
- ubiquinone
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
- endoplasmic reticulum fraction
- Nucleus
- Mitochondria
- mitochondrial matrix
- mitochondrial outer membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RTN4IP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of dendrite development
- nervous system development
- ubiquinone biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- mitochondrial outer membrane
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- NADPH dehydrogenase (quinone) activity