1. Gene
  2. NSFL1C - NSFL1 cofactor Gene

NSFL1C - NSFL1 cofactor Gene

中文名称:NSFL1 辅助因子

种属: Homo sapiens

同用名: P47; UBX1; UBXD10; UBXN2C; dJ776F14.1

基因 ID: 55968 | 基因类型: protein coding

关于 NSFL1C

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:1,442,166-1,466,849 (from NCBI)

This gene has 13 transcripts (splice variants), 216 orthologues and 3 paralogues. Ubiquitous expression in adrenal (RPKM 11.4), brain (RPKM 10.1) and 25 other tissues.

功能概要

N-乙基马来酰亚胺敏感因子 (NSF) 和含缬乐肽的蛋白质 (p97) 是已知参与转运囊泡/靶膜融合和膜室间融合的两种 ATP 酶。由该基因编码的蛋白质的三聚体结合胞质 p97 的六聚体,并且是 p97 介导的高尔基体池从有丝分裂的高尔基体片段再生所必需的。可变剪接导致多个转录本变体。已在 8 号染色体上鉴定出一个相关的假基因。[RefSeq 提供,2011 年 5 月]

N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]

NSFL1C 基因产物(3)

mRNA Protein Name
NM_001206736.2 NP_001193665.1 NSFL1 cofactor p47 isoform d
NM_016143.5 NP_057227.2 NSFL1 cofactor p47 isoform a
NM_018839.5 NP_061327.2 NSFL1 cofactor p47 isoform b
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 protein binding IPI
IPI: 通过物理相互作用推断
16169070 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in establishment of mitotic spindle orientation IGI
IGI: 通过遗传相互作用推断
23649807 GOA
involved in negative regulation of protein localization to centrosome IGI
IGI: 通过遗传相互作用推断
23649807 GOA
involved in positive regulation of mitotic centrosome separation IGI
IGI: 通过遗传相互作用推断
23649807 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of VCP-NSFL1C complex IPI
IPI: 通过物理相互作用推断
21645854 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

NSFL1C 蛋白结构

UBA_4

UBA_4: UBA-like domain (6 - 47)

SEP

SEP: SEP domain (184 - 258)

UBX

UBX: UBX domain (291 - 368)

  • 0
  • 100
  • 200
  • 300
  • 370 a.a.
蛋白主名 其他名称

NSFL1 cofactor p47

NSFL1 (p97) cofactor (p47)

NSFL1C 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
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 22466964
种属内
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 32814053
种属内
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 29997244
种属内
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 32814053
种属内
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 32814053
种属内
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 25416956
种属内
NSFL1C Q9UNZ2 VCP Homo sapiens P55072
Y2H
21900206
种属内
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 33961781
种属内
NSFL1C Q9UNZ2 TARDBP Homo sapiens Q13148 16169070
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
Alstrom Syndrome

ALMS

Alström Syndrome

Alss

Alstrom-Hallgren Syndrome

Alstroem Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus NSFL1C MGD MGI:3042273
Canis familiaris NSFL1C VGNC VGNC:43984
Bos taurus NSFL1C VGNC VGNC:32275
Rattus norvegicus NSFL1C RGD RGD:619952
Macaca mulatta NSFL1C VGNC VGNC:75407
Felis catus NSFL1C VGNC VGNC:63887