NSF - N-ethylmaleimide sensitive factor, vesicle fusing ATPase Gene

Homo sapiens

Also known as SKD2; DEE96; SEC18

Gene ID: 4905 | Gene type: protein coding

About NSF

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:46,590,669-46,757,464 (from NCBI)

This gene has 26 transcripts (splice variants), 1 gene allele, 287 orthologues and is associated with 1 phenotype. Broad expression in brain (RPKM 113.7), colon (RPKM 17.6) and 20 other tissues.

Summary

Enables PDZ domain binding activity and ionotropic glutamate receptor binding activity. Involved in intracellular protein transport; positive regulation of protein catabolic process; and positive regulation of receptor recycling. Located in Golgi apparatus; cytosol; and plasma membrane. Implicated in developmental and epileptic encephalopathy. [provided by Alliance of Genome Resources, Apr 2022]

NSF Products(1)

mRNA	Protein	Name
NM_006178.4	NP_006169.2	vesicle-fusing ATPase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables PDZ domain binding	IPI IPI: Inferred from physical interaction	15613468	GOA
enables ionotropic glutamate receptor binding	IPI IPI: Inferred from physical interaction	12130635	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15322554	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	15613468	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in intracellular protein transport	IMP IMP: Inferred from mutant phenotype	22045810	GOA
involved in positive regulation of protein catabolic process	IMP IMP: Inferred from mutant phenotype	22045810	GOA
involved in positive regulation of receptor recycling	IDA IDA: Inferred from direct assay	15613468	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	15613468	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NSF Protein Structure

CDC48_N

CDC48_2

AAA

0
200
400
600
744 a.a.

Protein Preferred Names

Protein Names

vesicle-fusing ATPase

N-ethylmaleimide-sensitive factor-like protein

NSF Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NSF	P46459	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
Intra	NSF	P46459	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	NSF	P46459	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	NSF	P46459	GRIA2	Homo sapiens	P42262	Pull Down	16724110
Intra	NSF	P46459	GABBR2	Homo sapiens	O75899	Pull Down	16724110
Intra	NSF	P46459	GABBR2	Homo sapiens	O75899	Imaging	16724110
Intra	NSF	P46459	NAPA	Homo sapiens	P54920	Anti Tag CoIP	20562859
Intra	NSF	P46459	NAPA	Homo sapiens	P54920	Chromatography	15322554

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 96

DEE96

Tetanus

Lockjaw	Clostridial Tetanus
Infection Due To Clostridium Tetani	Lock-Jaw

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

Foodborne Botulism

Botulism	Botulism Poisoning
Intoxication With Clostridium Botulinum Toxin	Wound Botulism
Food Poisoning Due To Clostridium Botulinum	Infection Due To Clostridium Botulinum
Infant Botulism	Intoxication Botulism
Botulism, Infantile	Clostridium Botulinum Poisoning
Botulism Nos

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2	Pontocerebellar Hypoplasia Type 2e
Pch2	PCH2E
Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy	Pontocerebellar Hypoplasia 2e
Pcca2	Progressive Cerebello-Cerebral Atrophy Type 2
Doid:0112328	Hypoplasia, Pontocerebellar, Type 2e
Pontocerebellar Hypoplasia, Type 2d	Pontocerebellar Hypoplasia Type 2a

Premature Ovarian Failure 18

POF18	Primary Ovarian Insufficiency 18
Ovarian Failure, Premature, Type 18

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P1399A	Pep2m, myristoylated TFA	Inhibitor	99.77%	Unkown
HY-P4114	TAT-NSF700scr		95.17%	Unkown
HY-P1399	Pep2m, myristoylated	Inhibitor	/	Unkown
HY-P4110	TAT-NSF222 Fusion Peptide	Inhibitor	/	Unkown
HY-RS09591	NSF Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NSF	VGNC	VGNC:75536
Rattus norvegicus	NSF	RGD	RGD:621594
Mus musculus	NSF	MGD	MGI:104560
Bos taurus	NSF	VGNC	VGNC:32274
Felis catus	NSF	VGNC	VGNC:68572
Canis familiaris	NSF	VGNC	VGNC:43983
Macaca fascicularis	NSF	NCBI	NCBI:101866905
Susscrofa domestica	NSF	NCBI
Others	NSF	NCBI

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