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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RTN4IP1
reticulon 4 interacting protein 1
Chromosome 6 Β· 6q21
NCBI Gene: 84816Ensembl: ENSG00000130347.14HGNC: HGNC:18647UniProt: Q8WWV3
42PubMed Papers
21Diseases
0Drugs
33Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingubiquinone biosynthetic processmitochondrionmitochondrial matrixAutosomal recessive isolated optic atrophyneurodegenerative diseasegenetic disorderoptic atrophy
✦AI Summary

RTN4IP1 encodes a mitochondrial NAD(P)H oxidoreductase with dual critical functions in cellular metabolism and disease pathogenesis. **Primary Function and Mechanism:** RTN4IP1 serves as a NAD(P)H oxidoreductase involved in ubiquinone biosynthesis 1, catalyzing oxidoreduction of ubiquinone intermediates. More importantly, RTN4IP1 functions as a bona fide complex I assembly factor required for terminal stages of mitochondrial complex I assembly 23. Complexome profiling reveals it facilitates ND5-module incorporation and N-module production 2. **Disease Relevance:** RTN4IP1 mutations cause autosomal recessive optic neuropathies, ranking among the top 10 genes in hereditary optic neuropathies 45. Patient fibroblasts with RTN4IP1 mutations exhibit complex I and IV deficiency and increased UV sensitivity 5. The gene also contributes to esophageal squamous cell carcinoma (ESCC) progression through regulation of amino acid transporters SLC1A5, SLC3A2, and SLC7A5 6. **Clinical Significance:** RTN4IP1 overexpression predicts adverse prognosis in breast cancer 7, while paradoxically acting as a tumor suppressor in thyroid cancer 8. This context-dependent role suggests RTN4IP1 functions as a critical metabolic hub linking mitochondrial bioenergetics to cancer progression and neurodegeneration.

Sources cited
1
RTN4IP1 is a NAD(P)H oxidoreductase involved in ubiquinone biosynthesis and required for COQ3 O-methyltransferase activity
PMID: 37884807
2
RTN4IP1 is a complex I assembly factor required for terminal assembly stages and coenzyme Q biosynthesis
PMID: 40859035
3
RTN4IP1 is crucial for mitochondrial respiration and complex I complete assembly
PMID: 40301572
4
RTN4IP1 ranks among top 10 genes involved in hereditary optic neuropathies
PMID: 36317462
5
RTN4IP1 mutations cause recessive optic neuropathy with complex I and IV deficiency and UV sensitivity
PMID: 26593267
6
RTN4IP1 upregulation contributes to ESCC via regulation of amino acid transporters SLC1A5, SLC3A2, and SLC7A5
PMID: 39757767
7
High RTN4IP1 expression predicts adverse prognosis in breast cancer
PMID: 37180657
8
RTN4IP1 is down-regulated in thyroid cancer and has tumor-suppressive function
PMID: 23393170
Disease Associationsβ“˜21
Autosomal recessive isolated optic atrophyOpen Targets
0.63Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.45Moderate
optic atrophyOpen Targets
0.39Weak
Retinal dystrophyOpen Targets
0.38Weak
dermatophytosisOpen Targets
0.26Weak
facial morphologyOpen Targets
0.20Weak
placenta praeviaOpen Targets
0.19Weak
Abnormality of the gastrointestinal tractOpen Targets
0.19Weak
goutOpen Targets
0.18Weak
Global developmental delayOpen Targets
0.15Weak
choreaOpen Targets
0.15Weak
MacrocephalyOpen Targets
0.15Weak
Short statureOpen Targets
0.15Weak
retinal degenerationOpen Targets
0.13Weak
pyogenic granulomaOpen Targets
0.09Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizuresUniProt
Pathogenic Variants33
NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His)Pathogenic
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures|not provided|Optic atrophy|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 103
NM_032730.5(RTN4IP1):c.59G>A (p.Trp20Ter)Pathogenic
not provided|Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
β˜…β˜…β˜†β˜†2025β†’ Residue 20
NM_032730.5(RTN4IP1):c.601A>T (p.Lys201Ter)Pathogenic
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 201
NM_032730.5(RTN4IP1):c.928C>T (p.Arg310Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 310
NM_032730.5(RTN4IP1):c.957dup (p.Thr320fs)Pathogenic
not provided|RTN4IP1-related disorder
β˜…β˜…β˜†β˜†2022β†’ Residue 320
NM_032730.5(RTN4IP1):c.426+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_032730.5(RTN4IP1):c.1067T>C (p.Leu356Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 356
NM_032730.5(RTN4IP1):c.620+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_032730.5(RTN4IP1):c.804dup (p.Pro269fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 269
NM_032730.5(RTN4IP1):c.878C>G (p.Ser293Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 293
NM_032730.5(RTN4IP1):c.960_961del (p.Gly321fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 321
NM_032730.5(RTN4IP1):c.138G>A (p.Trp46Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 46
NM_032730.5(RTN4IP1):c.991-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_032730.5(RTN4IP1):c.646G>A (p.Gly216Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 216
NM_032730.5(RTN4IP1):c.355_356del (p.Leu119fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 119
NM_032730.5(RTN4IP1):c.495+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_032730.5(RTN4IP1):c.679del (p.Ala227fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 227
NM_032730.5(RTN4IP1):c.587del (p.Gly196fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 196
NM_032730.5(RTN4IP1):c.1083+2T>CPathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_032730.5(RTN4IP1):c.986T>G (p.Leu329Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 329
View on ClinVar β†—
Related Genes
RTN4Protein interaction99%TMEM126AProtein interaction72%ZYXProtein interaction71%CSMD3Shared pathway50%COQ9Shared pathway50%COQ4Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Brain
45%
Liver
37%
Lung
14%
Bone Marrow
14%
Ovary
13%
Gene Interaction Network
Click a node to explore
RTN4IP1RTN4TMEM126AZYXCSMD3COQ9COQ4
PROTEIN STRUCTURE
Preparing viewer…
PDB2VN8 Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.95LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.52–0.95]
RankingsWhere RTN4IP1 stands among ~20K protein-coding genes
  • #9,938of 20,598
    Most Researched42
  • #1,738of 5,498
    Most Pathogenic Variants33
  • #8,921of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedRTN4IP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
RTN4IP1 Contributes to ESCC via Regulation of Amino Acid Transporters.
PMID: 39757767
Adv Sci (Weinh) Β· 2025
1.00
2
RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis.
PMID: 40859035
EMBO J Β· 2025
0.90
3
Time-resolved mitochondrial screen identifies regulatory components of oxidative metabolism.
PMID: 40301572
EMBO Rep Β· 2025
0.80
4
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
PMID: 36317462
Brain Β· 2023
0.70
5
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
PMID: 26593267
Am J Hum Genet Β· 2015
0.60