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

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

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-107353	Gadopentetic acid		≥99.0%	Unkown
HY-P1399A	Pep2m, myristoylated TFA	Inhibitor	99.77%	Unkown
HY-P1399	Pep2m, myristoylated	Inhibitor	/	Unkown
HY-P4114	TAT-NSF700scr		/	Unkown
HY-RS09591	NSF Human Pre-designed siRNA Set A		/	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
Susscrofa domestica	NSF	NCBI
Others	NSF	NCBI

Name
Email *

	Sorry, but the email address you supplied was invalid.