NSF (N-ethylmaleimide sensitive factor, vesicle fusing ATPase)

2016-10-01  

Identity

HGNC
NSF
LOCATION
17q21.31
LOCUSID
4905
ALIAS
DEE96,SEC18,SKD2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4905
MIM: 601633
HGNC: 8016
Ensembl: ENSG00000073969

Variants:

dbSNP: 4905
ClinVar: 4905
TCGA: ENSG00000073969
COSMIC: NSF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000073969ENST00000398238P46459
ENSG00000073969ENST00000398238A0A384MTI6
ENSG00000073969ENST00000465370K7EQD6
ENSG00000073969ENST00000571172I3L0L3
ENSG00000073969ENST00000571864I3L4Q9
ENSG00000073969ENST00000575068I3L0N3
ENSG00000073969ENST00000576040I3L338
ENSG00000073969ENST00000576346I3L2G1

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vasopressin-regulated water reabsorptionKEGGko04962
Vasopressin-regulated water reabsorptionKEGGhsa04962
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Glutamate Binding, Activation of AMPA Receptors and Synaptic PlasticityREACTOMER-HSA-399721
Trafficking of AMPA receptorsREACTOMER-HSA-399719
Trafficking of GluR2-containing AMPA receptorsREACTOMER-HSA-416993
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
COPI-mediated anterograde transportREACTOMER-HSA-6807878
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Retrograde transport at the Trans-Golgi-NetworkREACTOMER-HSA-6811440
Intra-Golgi trafficREACTOMER-HSA-6811438
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-dependent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811434

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
316751802019De novo NSF mutations cause early infantile epileptic encephalopathy.7
316751802019De novo NSF mutations cause early infantile epileptic encephalopathy.7
279956062017Differential requirement for N-ethylmaleimide-sensitive factor in endosomal trafficking of transferrin receptor from anterograde trafficking of vesicular stomatitis virus glycoprotein G.1
279956062017Differential requirement for N-ethylmaleimide-sensitive factor in endosomal trafficking of transferrin receptor from anterograde trafficking of vesicular stomatitis virus glycoprotein G.1
274988892016A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence.4
274988892016A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence.4
237750702013Processive ATP-driven substrate disassembly by the N-ethylmaleimide-sensitive factor (NSF) molecular machine.33
237750702013Processive ATP-driven substrate disassembly by the N-ethylmaleimide-sensitive factor (NSF) molecular machine.33
214262642012Candidate pathway association study in cocaine dependence: the control of neurotransmitter release.9
214262642012Candidate pathway association study in cocaine dependence: the control of neurotransmitter release.9
213249052011Thioredoxin increases exocytosis by denitrosylating N-ethylmaleimide-sensitive factor.14
213249052011Thioredoxin increases exocytosis by denitrosylating N-ethylmaleimide-sensitive factor.14
201760162010NSF independent fusion of Salmonella-containing late phagosomes with early endosomes.3
203989082010Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.34
204680642010Association study of 182 candidate genes in anorexia nervosa.32

Citation

Dessen P

NSF (N-ethylmaleimide sensitive factor, vesicle fusing ATPase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56222/meetings/deep-insight-explorer/