Target intelligence / Profile preview

Neuroblastoma-amplified gene protein (NBAS) (NBAS)

Target
NBAS
Molecular classification
Vesicle tethering factor, Peripheral membrane protein, SNARE complex-associated protein, Other (component of CATCHR protein family)
01

Overview

Neuroblastoma-amplified gene protein (NBAS) is a large, highly conserved peripheral membrane protein and a subunit of the NRZ tethering complex, which bridges SNARE complexes and coordinates Golgi-to-endoplasmic reticulum (ER) retrograde transport. NBAS is essential for vesicle tethering, SNARE assembly, and cellular homeostasis. Mutations in the NBAS gene cause diverse multisystem disorders, most notably infantile liver failure syndrome and immunodeficiency. NBAS is also implicated in neuroblastoma due to frequent gene amplification. Further, NBAS is involved in cell cycle checks, autophagy, glycosylation, and the nonsense-mediated mRNA decay pathway. Current drug discovery efforts focus on identifying ligands for NBAS and exploring its druggability, but no direct therapeutic agents are yet clinically validated[1][2][3][4][6].

Other names
Neuroblastoma-amplified sequenceNAGILFS2SOPHNBAS subunit of NRZ tethering complexNBAS_HUMANA2RRP1O95790Q2VPJ7Q53TK6Q86V39Q8NFY8Q9Y3W5
02

Mechanism of action

Not available; no clinically approved drugs act directly on NBAS. Most mechanism data relates to its molecular roles in vesicle tethering and SNARE complex regulation[1][3].

03

Biological functions

Golgi-to-ER retrograde transportCellular homeostasisSNARE assembly at the ERmRNA nonsense-mediated decayCell cycle regulationAutophagyProtein glycosylation
04

Disease associations

Cancer (gene amplified in neuroblastoma)Liver failure syndromes (infantile liver failure syndrome 2, ILFS2)Short stature, optic atrophy, Pelger–Huët anomaly syndrome (SOPH)ImmunodeficiencyOther (skeletal and ocular disease)
05

Safety considerations

Genetic mutations can lead to acute liver failure and severe congenital diseaseFunctional loss causes cellular stress, oxidative stress, and apoptosis[2]Potential adverse immune, hepatic, skeletal, and ocular outcomes in patients with NBAS deficiency[2][6]
06

Interacting drugs

None reported specifically; advanced virtual screening and focused library development are ongoing for ligands targeting this protein[1].
07

Biomarkers

NBAS gene mutation (diagnostic for NBAS-related liver failure syndromes and certain immunodeficiencies[2][6])mRNA and protein levels in disease screening[6]TREC/KREC quantification in newborn screening for immunodeficiency[6]

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