RTN4IP1 Gene (Reticulon 4 Interacting Protein 1)
A mitochondrial protein involved in optic atrophy and neurological disorders
Gene Information Card
| Symbol | RTN4IP1 |
|---|---|
| Full Name | Reticulon 4 Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 84816 ncbi.nlm.nih.gov/gene/84816 |
| Ensembl ID | ENSG00000111875 |
| UniProt ID | Q8WWV3 |
| OMIM ID | 610382 |
| HGNC ID | 18627 |
| Aliases | OPA10, NIMP, FLJ22386 |
Description
RTN4IP1 (Reticulon 4 Interacting Protein 1) encodes a mitochondrial protein that interacts with reticulon 4 (RTN4). It is involved in mitochondrial dynamics and oxidative phosphorylation. Mutations in this gene cause autosomal recessive optic atrophy type 10 (OPA10), a disorder characterized by progressive vision loss due to degeneration of retinal ganglion cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Optic atrophy 10 (OPA10) | Loss-of-function mutations impair mitochondrial function, leading to retinal ganglion cell degeneration | OMIM #616732; multiple case reports in ClinVar |
| Hereditary spastic paraplegia (rare) | Disrupted mitochondrial transport in neurons | Limited evidence; single case reports in literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Eye | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.3 | Neuronal model |
| HEK293 (embryonic kidney) | 9.8 | Common expression system |
| HeLa (cervical carcinoma) | 7.5 | Epithelial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.167G>A (p.Arg56His) | Missense | Rare | Loss of function; associated with OPA10 |
| c.404C>T (p.Pro135Leu) | Missense | Rare | Loss of function; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein |
Mutation functional classification
Loss of Function (LOF)
Most RTN4IP1 mutations are loss-of-function, leading to reduced mitochondrial respiration and ATP production.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrial inner membrane (GO:0005743) |
| • mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | • integral component of membrane (GO:0016021) |
| • protein homodimerization activity (GO:0042803) |
Pathways
• Oxidative phosphorylation (Reactome R-HSA-611105)
• Mitochondrial protein import (Reactome R-HSA-1268020)
Protein Summary
RTN4IP1 is a 396-amino acid mitochondrial inner membrane protein. It interacts with reticulon 4 and is essential for maintaining mitochondrial cristae structure and efficient oxidative phosphorylation. The protein is ubiquitously expressed, with highest levels in tissues with high energy demand such as brain and eye. Loss of function leads to mitochondrial dysfunction and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RTN4IP1 Knockout HEK293 Cell Line | EDJ-KQ9439 | Human | 84816 | Details Get a Quote |
| RTN4IP1 Knockout A-549 Cell Line | EDJ-KQ37360 | Human | 84816 | Details Get a Quote |
| RTN4IP1 Knockout HCT 116 Cell Line | EDJ-KQ37361 | Human | 84816 | Details Get a Quote |
| RTN4IP1 Knockout HeLa Cell Line | EDJ-KQ37362 | Human | 84816 | Details Get a Quote |
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