NUB1 - negative regulator of ubiquitin like proteins 1 Gene

中文名称：泛素样蛋白负调节因子 1

种属: Homo sapiens

同用名: BS4; NUB1L; NYREN18

基因 ID: 51667 | 基因类型: protein coding

关于 NUB1

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:151,341,812-151,378,449 (from NCBI)

This gene has 12 transcripts (splice variants) and 211 orthologues. Ubiquitous expression in lymph node (RPKM 24.3), testis (RPKM 24.2) and 25 other tissues.

功能概要

该基因编码的蛋白质可作为 NEDD8 的负调节因子发挥作用，NEDD8 是一种泛素样蛋白质，可与 cullin 家族成员结合以调节重要的生物事件。由该基因编码的蛋白质通过将 NEDD8 及其偶联物募集到蛋白酶体进行降解，从而在转录后调节 NEDD8 偶联系统。这种蛋白质与 AIPL1 基因的产物相互作用，AIPL1 基因与 Leber 先天性黑蒙症 (一种遗传性视网膜病) 相关，并且该基因的突变可以消除与这种蛋白质的相互作用，这可能有助于发病机制。还已知这种蛋白质在帕金森氏病和路易体痴呆的路易体中以及多系统萎缩的神经胶质细胞质内含物中积累，这种异常积累对 α-突触核蛋白病病变具有特异性。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2011 年 8 月]

This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the Proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

NUB1 基因产物(8)

mRNA	Protein	Name
NM_001243351.2	NP_001230280.2	NEDD8 ultimate buster 1 isoform 1
NM_001363529.2	NP_001350458.1	NEDD8 ultimate buster 1 isoform 1
NM_001385353.1	NP_001372282.1	NEDD8 ultimate buster 1 isoform 2
NM_001385354.1	NP_001372283.1	NEDD8 ultimate buster 1 isoform 4
NM_001385355.1	NP_001372284.1	NEDD8 ultimate buster 1 isoform 4
NM_001385356.1	NP_001372285.1	NEDD8 ultimate buster 1 isoform 5
NM_001385361.1	NP_001372290.1	NEDD8 ultimate buster 1 isoform 5
NM_016118.5	NP_057202.4	NEDD8 ultimate buster 1 isoform 2

基因本体论

分子功能
生物过程

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	12374762	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: 通过突变表型推断	16707496	GOA
involved in protein ubiquitination	IMP IMP: 通过突变表型推断	16707496	GOA
involved in response to tumor necrosis factor	IEP IEP: 通过表达模式推断	16707496	GOA
involved in response to type II interferon	IEP IEP: 通过表达模式推断	16707496	GOA
involved in ubiquitin-dependent protein catabolic process	IMP IMP: 通过突变表型推断	16707496	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

NUB1 蛋白结构

UBA

0
100
200
300
400
500
600
639 a.a.

蛋白主名

其他名称

NEDD8 ultimate buster 1

NEDD8 ultimate buster-1

NUB1 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	NUB1	Q9Y5A7	SF3B4	Homo sapiens	Q15427	Y2H Array	25416956
种属内	NUB1	Q9Y5A7	SF3B4	Homo sapiens	Q15427	Y2H Prey Pooling	25416956
种属内	NUB1	Q9Y5A7	SF3B4	Homo sapiens	Q15427	Validated Y2H	25416956
种属内	NUB1	Q9Y5A7	AIPL1	Homo sapiens	Q9NZN9	Y2H	12374762
种属内	NUB1	Q9Y5A7	TERF1	Homo sapiens	P54274	Pull Down	27214791
种属内	NUB1	Q9Y5A7	TERF1	Homo sapiens	P54274	IF	27214791

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

Strabismic Amblyopia

Suppression Amblyopia	Amblyopia
Amblyopia, Suppression

Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness

Bsnd	Sensorineural Deafness With Mild Renal Dysfunction
Bartter Disease Type 4a	BARTS4A
Bartter Syndrome, Type 4a	Bartter Syndrome Type 4
Bartter Syndrome, Neonatal, With Sensorineural Deafness	Bartter Syndrome With Sensorineural Deafness
Bartter Syndrome Type 4a	Neonatal Bartter Syndrome With Sensorineural Deafness
Bartter Syndrome Type Iv	Bartter Syndrome With Sensorineural Hearing Loss
Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness	Hyperprostanglandin E Syndrome 4
Hypokalemic Alkalosis With Hypercalciuria Antenatal 4	Infantile Bartter Syndrome With Sensorineural Deafness

Hordeolum

Stye	Boil Of Eyelid
Furuncle Of Eyelid	Hordeolum Externum

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Spinal Muscular Atrophy, Jerash Type	DSMA2
Neuropathy, Distal Hereditary Motor, Jerash Type	Hmnj
Autosomal Recessive Distal Spinal Muscular Atrophy 2	Neuronopathy, Distal Hereditary Motor, Jerash Type
Distal Spinal Muscular Atrophy 2	Dhmnj
Hereditary Motor Neuropathy, Jerash Type	Motor Neuropathy, Distal, Jerash Type
Distal Hereditary Motor Neuropathy, Jerash Type	Distal Hereditary Motor Neuropathy Jerash Type
Spinal Muscular Atrophy Jerash Type	Mndj
Autosomal Recessive Distal Spinal Muscular Atrophy Type 2	Distal Spinal Muscular Atrophy, Autosomal Recessive, 2
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09650	NUB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	NUB1	MGD	MGI:1889001
Rattus norvegicus	NUB1	RGD	RGD:1359489
Felis catus	NUB1	VGNC	VGNC:63908
Macaca mulatta	NUB1	VGNC	VGNC:75421
Bos taurus	NUB1	VGNC	VGNC:32314
Canis familiaris	NUB1	VGNC	VGNC:44016

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