2. Gene
  3. NSF - N-ethylmaleimide sensitive factor, vesicle fusing ATPase Gene

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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：N-乙基马来酰亚胺敏感因子，融合 ATP 酶的囊泡

种属: Homo sapiens

同用名: SKD2; DEE96; SEC18

基因 ID: 4905 | 基因类型: protein coding

关于 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.

功能概要

启用 PDZ 结构域结合活性和离子型谷氨酸受体结合活性。参与细胞内蛋白质转运；蛋白质分解代谢过程的正向调节；和受体回收的正向调节。位于高尔基体；胞质溶胶；和质膜。与发育性和癫痫性脑病有关。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_006178.4 NP_006169.2 vesicle-fusing ATPase
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables PDZ domain binding IPI
IPI: 通过物理相互作用推断
15613468 GOA
enables ionotropic glutamate receptor binding IPI
IPI: 通过物理相互作用推断
12130635 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15322554 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
15613468 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular protein transport IMP
IMP: 通过突变表型推断
22045810 GOA
involved in positive regulation of protein catabolic process IMP
IMP: 通过突变表型推断
22045810 GOA
involved in positive regulation of receptor recycling IDA
IDA: 通过直接分析推断
15613468 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
15613468 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

NSF 蛋白结构

CDC48_N

CDC48_N: Cell division protein 48 (CDC48), N-terminal domain (6 - 84)

CDC48_2

CDC48_2: Cell division protein 48 (CDC48), domain 2 (111 - 159)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (256 - 396)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (539 - 668)

  • 0
  • 200
  • 400
  • 600
  • 744 a.a.
蛋白主名 其他名称

vesicle-fusing ATPase

N-ethylmaleimide-sensitive factor-like protein

NSF 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
NSF P46459 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
种属内
NSF P46459 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
种属内
NSF P46459 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
种属内
NSF P46459 GRIA2 Homo sapiens P42262
Pull Down
16724110
种属内
NSF P46459 GABBR2 Homo sapiens O75899
Pull Down
16724110
种属内
NSF P46459 GABBR2 Homo sapiens O75899
Imaging
16724110
种属内
NSF P46459 NAPA Homo sapiens P54920
Anti Tag CoIP
20562859
种属内
NSF P46459 NAPA Homo sapiens P54920
Chromatography
15322554
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (6)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-107353 Gadopentetic acid 99.89% 否
HY-160971 Ribonucleic Acid, Transfer from Brewing yeast Inhibitor ≥99.0% 否
HY-P1399A Pep2m, myristoylated TFA Inhibitor 99.77% 否
HY-P4114 TAT-NSF700scr / 否
HY-P1399 Pep2m, myristoylated Inhibitor / 否
HY-RS09591 NSF Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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