RTN4IP1

Last update 23 Jan 2025

Basic Info

Synonyms

NIMP, NOGO-interacting mitochondrial protein, reticulon 4 interacting protein 1

+ [2]

Introduction

Plays a role in the regulation of retinal ganglion cell (RGC) neurite outgrowth, and hence in the development of the inner retina and optic nerve. Appears to be a potent inhibitor of regeneration following spinal cord injury.

100 Clinical Results associated with RTN4IP1

100 Translational Medicine associated with RTN4IP1

0 Patents (Medical) associated with RTN4IP1

Literatures (Medical) associated with RTN4IP1

01 Jul 2024·Gene

Transcriptomic regulatory analysis of skeletal muscle development in landrace pigs

Article

Author: Wang, Tao ; Yan, Jiamao ; Wang, Junjie ; Tian, Zhe ; Zhang, Xiaoyuan ; Yu, Mubin ; Feng, Yanqin ; Shen, Wei

The development of pig skeletal muscle is a complex dynamic regulation process, which mainly includes the formation of primary and secondary muscle fibers, the remodeling of muscle fibers, and the maturation of skeletal muscle; However, the regulatory mechanism of the entire developmental process remains unclear. This study analyzed the whole-transcriptome data of skeletal muscles at 27 developmental nodes (E33-D180) in Landrace pigs, and their key regulatory factors in the development process were identified using the bioinformatics method. Firstly, we constructed a transcriptome expression map of skeletal muscle development from embryo to adulthood in Landrace pig. Subsequently, due to drastic change in gene expression, the perinatal periods including E105, D0 and D9, were focused, and the genes related to the process of muscle fiber remodeling and volume expansion were revealed. Then, though conjoint analysis with miRNA and lncRNA transcripts, a ceRNA network were identified, which consist of 11 key regulatory genes (such as CHAC1, RTN4IP1 and SESN1), 7 miRNAs and 43 lncRNAs, and they potentially play an important role in the process of muscle fiber differentiation, muscle fiber remodeling and volume expansion, intramuscular fat deposition, and other skeletal muscle developmental events. In summary, we reveal candidate genes and underlying molecular regulatory networks associated with perinatal skeletal muscle fiber type remodeling and expansion. These data provide new insights into the molecular regulation of mammalian skeletal muscle development and diversity.

03 May 2024·Ophthalmic Genetics

RTN4IP1 -associated non-syndromic optic neuropathy and rod-cone dystrophy

Article

Author: Huckfeldt, Rachel M ; O'Connell, Kaitlin ; Sullivan, Jack M ; Gupta, Priya R

BACKGROUNDBiallelic variants in RTN4IP1 are a well-established cause of syndromic and nonsyndromic early-onset autosomal recessive optic neuropathy. They have more recently been reported to cause a concomitant but later-onset rod-cone dystrophy with or without syndromic features.METHODSA comprehensive evaluation was performed that included assessment of visual and retinal function, clinical examination, and retinal imaging. Childhood ophthalmic records as well as the results of genetic testing were evaluated.RESULTSA 24-year-old female described longstanding reduced visual acuity with more recent subjective impairment of dark adaptation. Visual acuity was subnormal in both eyes. Goldmann kinetic perimetry demonstrated scotomas in a pattern consistent with the presence of both optic neuropathy and rod-cone dystrophy with fundus exam as well as retinal imaging showing corroborating findings. Full-field electroretinography further confirmed the presence of a rod-cone dystrophy. Genetic testing demonstrated biallelic variants in RTN4IP1, one of which was novel, in association with the ocular findings.CONCLUSIONSRTN4IP1-associated early-onset bilateral optic neuropathy with rod-cone dystrophy is a recently described clinical entity with limited reports available to-date. The present case provides additional support for this dual phenotype and identifies a novel causative variant.

01 Feb 2024·Nature Chemical Biology

Mitochondrial matrix RTN4IP1/OPA10 is an oxidoreductase for coenzyme Q synthesis

Article

Author: Liu, Kwang-Hyeon ; Kim, Jeesoo ; Yoo, Chang-Mo ; Lee, Kyu-Sun ; Park, Isaac ; Mishra, Pratyush Kumar ; Kim, Kwang-Eun ; Bae, Subin ; Kim, Taek-Min ; Kwak, Chulhwan ; Mun, Ji Young ; Choi, Jinhyuk ; Rhee, Hyun-Woo ; Kim, Jong-Seo ; Jung, Minkyo ; Suh, Jae Myoung ; Kang, Myeong-Gyun ; Kim, Ae-Kyeong

AbstractTargeting proximity-labeling enzymes to specific cellular locations is a viable strategy for profiling subcellular proteomes. Here, we generated transgenic mice (MAX-Tg) expressing a mitochondrial matrix-targeted ascorbate peroxidase. Comparative analysis of matrix proteomes from the muscle tissues showed differential enrichment of mitochondrial proteins. We found that reticulon 4-interacting protein 1 (RTN4IP1), also known as optic atrophy-10, is enriched in the mitochondrial matrix of muscle tissues and is an NADPH oxidoreductase. Interactome analysis and in vitro enzymatic assays revealed an essential role for RTN4IP1 in coenzyme Q (CoQ) biosynthesis by regulating the O-methylation activity of COQ3. Rtn4ip1-knockout myoblasts had markedly decreased CoQ9 levels and impaired cellular respiration. Furthermore, muscle-specific knockdown of dRtn4ip1 in flies resulted in impaired muscle function, which was reversed by dietary supplementation with soluble CoQ. Collectively, these results demonstrate that RTN4IP1 is a mitochondrial NAD(P)H oxidoreductase essential for supporting mitochondrial respiration activity in the muscle tissue.

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RTN4IP1

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