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

Also Known as SKD2; DEE96; SEC18

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4905

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09591	NSF Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-P4114	TAT-NSF700scr		95.17%	Unkown
HY-P1399A	Pep2m, myristoylated TFA	Inhibitor	99.77%	Unkown
HY-P1057	Pep4c	Control	/	Unkown
HY-P1058	Pep2m	Inhibitor	/	Unkown
HY-P1399	Pep2m, myristoylated	Inhibitor	/	Unkown
HY-P4110	TAT-NSF222 Fusion Peptide	Inhibitor	/	Unkown
HY-118460	ACJI-99C	Inhibitor	/	Unkown
HY-149590	IPA	Chemical	/	Unkown
HY-N12768	Rhodojaponin VI	Inhibitor	/	Unkown
HY-RS16783	Nsf Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23223	Nsf Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	NSF	NCBI