NSF

Chr 17q21.31

N-ethylmaleimide sensitive factor, vesicle fusing ATPase

Aliases:: SKD2, SEC18
MANE:: ENST00000398238.8

OMIM: 601633 ↗NCBI: 4905 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

NSF · P46459

v62025-08-01

Predicted Aligned Error matrix for NSF — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.6/ 100

Confident

744 residues

Confidence breakdown

Very high(≥ 90)45%
Confident(70–90)46%
Low(50–70)9%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

developmental and epileptic encephalopathy 96
0.56
neurodegenerative disease
0.53
Abnormality of the skeletal system
0.36
atrial fibrillation
0.34
androgenetic alopecia
0.31
Anxiety
0.26
idiopathic pulmonary fibrosis
0.26
dermatomycosis
0.25
dermatophytosis
0.25
functional laterality
0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Vesicle-fusing ATPase

Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity)