RINT1

Last update 08 May 2025

Basic Info

Synonyms

FLJ11785, HsRINT-1, RAD50 interactor 1

+ [3]

Introduction

Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. May play a role in cell cycle checkpoint control (PubMed:11096100). Essential for telomere length control (PubMed:16600870).

100 Clinical Results associated with RINT1

100 Translational Medicine associated with RINT1

0 Patents (Medical) associated with RINT1

Literatures (Medical) associated with RINT1

01 Jan 2025·Journal of Inherited Metabolic Disease

Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency

Review

Author: Schlieben, Lea D. ; Peters, Bianca ; Staufner, Christian ; Sun, Tian ; Lenz, Dominic ; Dattner, Tal

AbstractAmong genetic disorders of vesicular trafficking, there are three causing recurrent acute liver failure (RALF): NBAS, RINT1, and SCYL1‐associated disease. These three disorders are characterized by liver crises triggered by febrile infections and account for a relevant proportion of RALF causes. While the frequency and severity of liver crises in NBAS and RINT1‐associated disease decrease with age, patients with SCYL1 variants present with a progressive, cholestatic course. In all three diseases, there is a multisystemic, partially overlapping phenotype with variable expression, including liver, skeletal, and nervous systems, all organ systems with high secretory activity. There are no specific biomarkers for these diseases, and whole exome sequencing should be performed in patients with RALF of unknown etiology. NBAS, SCYL1, and RINT1 are involved in antegrade and retrograde vesicular trafficking. Pathomechanisms remain unclarified, but there is evidence of a decrease in concentration and stability of the protein primarily affected by the respective gene defect and its interaction partners, potentially causing impairment of vesicular transport. The impairment of protein secretion by compromised antegrade transport provides a possible explanation for different organ manifestations such as bone alteration due to lack of collagens or diabetes mellitus when insulin secretion is affected. Dysfunction of retrograde transport impairs membrane recycling and autophagy. The impairment of vesicular trafficking results in increased endoplasmic reticulum stress, which, in hepatocytes, can progress to hepatocytolysis. While there is no curative therapy, an early and consequent implementation of an emergency protocol seems crucial for optimal therapeutic management.

03 Sep 2024·Journal of Clinical Investigation

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

Article

Author: Chopra, Maya ; Kim, Hyo-Min ; Züchner, Stephan ; Planas-Serra, Laura ; Zubair, Umar ; Eklund, Erik A ; Tam, Amy ; Pujol, Aurora ; Sveden, Abigail ; Danzi, Matt C ; Schierbaum, Luca ; Saffari, Afshin ; Quiroz, Vicente ; Resch, Dario ; Ebrahimi-Fakhari, Darius

17 Jul 2023·The Journal of clinical investigation

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.

Article

Author: Casasnovas, Carlos ; Pujol, Aurora ; Vazquez Cancela, Maria ; Boespflug-Tanguy, Odile ; Casas, Josefina ; Planas-Serra, Laura ; Ruiz, Montserrat ; Gutiérrez-Solana, Luis González ; Launay, Nathalie ; Guilera, Cristina ; Goicoechea, Leire ; Campelo, Felix ; Verdura, Edgard ; Area-Gomez, Estela ; Rodríguez-Palmero, Agustí ; Jouanguy, Emmanuelle ; Casanova, Jean-Laurent ; Schlüter, Agatha

The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute liver failure (ALF). Here, we describe 3 individuals from 2 unrelated families with novel biallelic RINT1 loss-of-function variants who presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, and dysmorphic features, broadening the previously described phenotype. Our functional and lipidomic analyses provided evidence that pathogenic RINT1 variants induce defective lipid-droplet biogenesis and profound lipid abnormalities in fibroblasts and plasma that impact both neutral lipid and phospholipid metabolism, including decreased triglycerides and diglycerides, phosphatidylcholine/phosphatidylserine ratios, and inhibited Lands cycle. Further, RINT1 mutations induced intracellular ROS production and reduced ATP synthesis, affecting mitochondria with membrane depolarization, aberrant cristae ultrastructure, and increased fission. Altogether, our results highlighted the pivotal role of RINT1 in lipid metabolism and mitochondria function, with a profound effect in central nervous system development.

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RINT1

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