NBAS

Last update 08 May 2025

Basic Info

Synonyms

NAG, NBAS, NBAS subunit of NRZ tethering complex

+ [2]

Introduction

Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; 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 (PubMed:19369418). Required for normal embryonic development (By similarity). May play a role in the nonsense-mediated decay pathway of mRNAs containing premature stop codons (By similarity).

100 Clinical Results associated with NBAS

100 Translational Medicine associated with NBAS

0 Patents (Medical) associated with NBAS

Literatures (Medical) associated with NBAS

01 May 2025·Molecular Genetics and Metabolism

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency

Article

Author: Gahl, William ; Huang, Yan ; Macnamara, Ellen ; Williams, Charlotte ; Adams, David R ; Malicdan, May-Christine ; Pusey, Barbara ; Frost, F Graeme ; Tifft, Cynthia J ; Fu, Jiayu ; Silverstein, Sarah ; Cassini, Thomas

One in 10 individuals has a rare disease, with exome and genome sequencing yielding an overall diagnostic rate of approximately 30 %. RNA sequencing can augment genome analysis and improve diagnosis. We present a young woman with global developmental delay, poor growth, distinctive facial features, osteopenia, premature ovarian insufficiency, and ocular abnormalities who had non-diagnostic genome sequencing. RNAseq performed on her skin fibroblasts showed that NBAS gene expression was significantly reduced compared with controls. Manual inspection of the binary alignment map (BAM) files revealed compound heterozygous variants in NBAS: a rare deep intronic variant NM_015909.4:c.2423 + 403G > C which creates a hypomorphic pseudoexon not seen in control samples (gnomad allele frequency (AF) 0.000006572); and a rare premature termination codon (PTC) NM_015909.4:c.4753C > T; p.Arg1585Ter (gnomad AF 0.000006572). Both variants are predicted to cause nonsense mediated decay of transcripts, as the pseudoexon contains a PTC. Biallelic variants in NBAS are associated with two major phenotypes, i.e., infantile liver failure syndrome 2 (MIM # 616483) and short stature, optic nerve atrophy, and Pelger-Huet anomaly (MIM # 614800). Our patient, the first reported with one loss of function and one splice variant resulting in an out of frame transcript in NBAS, manifested a severe phenotype compared with previously reported individuals. This case demonstrates the utility of incorporating RNAseq to generate diagnostic candidates and expands the phenotypic spectrum of NBAS deficiency.

17 Apr 2025·The FEBS journal

The G protein-coupled receptor GPR89A is a novel potential therapeutic target to overcome cisplatin resistance in NSCLC Calu1 cells.

Article

Author: Eroglu, Zuhal ; Bozok, Vildan ; Cakiroglu, Ece ; Kosova, Buket ; Aktan, Cagdas ; Guler Kara, Hale ; Senturk, Serif ; Korkmaz, Kemal Sami ; Dogan, Eda ; Aygunes Jafari, Duygu

Lung cancer is the most frequently diagnosed cancer type worldwide and is characterised by its high metastatic potential. Standard therapy for nonsmall cell lung cancer (NSCLC) cases includes chemotherapy with the platinum-based chemotherapeutic agent cisplatin. Although lung cancer cases respond well to cisplatin at the beginning of treatment, ~ 60% develop chemotherapy resistance during this process. In this study, a genome-wide CRISPR-Cas9-based genetic screening approach was employed to identify genes that cisplatin-resistant NSCLC Calu1 cells are more addicted to than sensitive cells. Cisplatin-resistant Calu1 cells were generated by the dose escalation method, and genome-wide CRISPR-Cas9-based genetic screening was performed with the Brunello CRISPR knockout library. Bioinformatics analyses of the obtained next-generation sequencing data revealed 63 potential candidate genes responsible for cisplatin resistance, including G protein-coupled receptor 89A (GPR89A), Poly(U) binding splicing factor 60 (PUF60), NBAS subunit of NRZ tethering complex (NBAS) and GrpE like 1, mitochondrial (GRPEL1). The GPR89A protein is located in the Golgi cisterna and Golgi-associated vesicle membrane, enables voltage-gated anion channel activity, and is involved in intracellular pH reduction. Functional studies carried out with GPR89A-knockout cisplatin-resistant Calu1 cells resulted in cell cycle arrest in the G2/M phase and increased polyploidy, and also prevented colony formation and cell migration. Cisplatin treatment, on the other hand, resulted in increased cell death by apoptosis upon cell cycle arrest in the S phase. In conclusion, this is the first study that identified GPR89A as a potential therapeutic target to overcome cisplatin resistance in NSCLC Calu1 cells.

01 Apr 2025·Proteins: Structure, Function, and Bioinformatics

Protein‐Variant‐Phenotype Study of NBAS Using AlphaFold in the Aspect of SOPH Syndrome

Article

Author: Zhozhikov, Leonid ; Maksimova, Nadezhda ; Vasilev, Filipp

ABSTRACTNBAS gene variants cause phenotypically distinct and nonoverlapping conditions, SOPH syndrome and ILFS2. NBAS is a so‐called “moonlighting” protein responsible for retrograde membrane trafficking and nonsense‐mediated decay. However, its three‐dimensional model and the nature of its possible interactions with other proteins have remained elusive. Here, we used AlphaFold to predict protein–protein interaction (PPI) sites and mapped them to NBAS pathogenic variants. We repeated in silico milestone studies of the NBAS protein to explain the multisystem phenotype of its variants, with particular emphasis on the SOPH variant (p.R1914H). We revealed the putative binding sites for the main interaction partners of NBAS and assessed the implications of these binding sites for the subdomain architecture of the NBAS protein. Using AlphaFold, we disclosed the far‐reaching impact of NBAS variants on the development of each phenotypic trait in patients with NBAS‐related pathologies.

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