UFD1 - ubiquitin recognition factor in ER associated degradation 1 Gene

中文名称：ER 相关降解中的泛素识别因子 1

种属: Homo sapiens

同用名: UFD1L

基因 ID: 7353 | 基因类型: protein coding

关于 UFD1

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,449,911-19,479,193 (from NCBI)

This gene has 10 transcripts (splice variants), 207 orthologues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 14.2), testis (RPKM 13.8) and 25 other tissues.

功能概要

由该基因编码的蛋白质与其他两种蛋白质形成复合物，即核蛋白定位 4 和含有 valosin 的蛋白质，该复合物是泛素化蛋白质降解所必需的。此外，该复合物控制有丝分裂纺锤体的分解和有丝分裂后封闭核膜的形成。该基因的突变与 Catch 22 综合征以及心脏和颅面缺陷有关。可变剪接导致编码不同异构体的多个转录变体。已在 18 号染色体上鉴定出一个相关的假基因。[RefSeq 提供，2009 年 6 月]

The protein encoded by this gene forms a complex with two Other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]

UFD1 基因产物(3)

mRNA	Protein	Name
NM_001035247.3	NP_001030324.2	ubiquitin recognition factor in ER-associated degradation protein 1 isoform B
NM_001362910.2	NP_001349839.1	ubiquitin recognition factor in ER-associated degradation protein 1 isoform C
NM_005659.7	NP_005650.2	ubiquitin recognition factor in ER-associated degradation protein 1 isoform A

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	11574150	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in ERAD pathway	IMP IMP: 通过突变表型推断	24089527	GOA
involved in cellular response to misfolded protein	IMP IMP: 通过突变表型推断	24089527	GOA
involved in negative regulation of RIG-I signaling pathway	IMP IMP: 通过突变表型推断	26471729	GOA
involved in negative regulation of type I interferon production	IMP IMP: 通过突变表型推断	26471729	GOA
involved in retrograde protein transport, ER to cytosol	IMP IMP: 通过突变表型推断	25660456	GOA
involved in ubiquitin-dependent protein catabolic process	IMP IMP: 通过突变表型推断	26471729	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of UFD1-NPL4 complex	IPI IPI: 通过物理相互作用推断	11574150	GOA
part of VCP-NPL4-UFD1 AAA ATPase complex	IDA IDA: 通过直接分析推断	26471729	GOA
part of VCP-NPL4-UFD1 AAA ATPase complex	IPI IPI: 通过物理相互作用推断	20414249	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

UFD1 蛋白结构

UFD1

0
100
200
307 a.a.

蛋白主名

其他名称

ubiquitin recognition factor in ER-associated degradation protein 1

UB fusion protein 1

UFD1 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	UFD1	Q92890	NPLOC4	Homo sapiens	Q8TAT6	Y2H Prey Pooling	32296183
种属内	UFD1	Q92890	NPLOC4	Homo sapiens	Q8TAT6	Anti Tag CoIP	33961781
种属内	UFD1	Q92890	NPLOC4	Homo sapiens	Q8TAT6	Y2H Array	32296183
种属内	UFD1	Q92890	VCP	Homo sapiens	P55072	Anti Tag CoIP	33961781

种属间: 跨种属相互作用 种属内: 同种属相互作用

UFD1 抗体

目录号	产品名	应用	反应物种
HY-P82607	UFD1 Antibody (YA2352)	WB	Human

关联疾病

疾病名称

别名

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome	DGS
Hypoplasia Of Thymus And Parathyroids	Third And Fourth Pharyngeal Pouch Syndrome
22q11.2 Deletion Syndrome	Digeorge Sequence
Digeorge'S Syndrome	Pharyngeal Pouch Syndrome
Di-George Syndrome	Shprintzen Syndrome

Velocardiofacial Syndrome

Shprintzen Syndrome	VCFS
Chromosome 22q11.2 Deletion Syndrome	Vcf Syndrome
Shprintzen Vcf Syndrome	Vcf-Velocardiofacial Syndrome
Velo-Cardio-Facial Syndrome	Digeorge Syndrome
22q11 Deletion Syndrome	Conotruncal Anomaly Face 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

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 1

Ibmpfd1	Msp1
Multisystem Proteinopathy 1

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome	22q11.2 Microduplication Syndrome
22q11.2 Duplication Syndrome	Duplication 22q11.2
Trisomy 22q11.2	22q11.2 Duplication
Dup(22)(Q11)

Multisystem Proteinopathy

Paget'S Disease Of Bone

Osteitis Deformans	Paget Disease Of Bone
Osseous Paget'S Disease	Paget Disease Of Bone, Familial
Bone Paget Disease	Familial Paget'S Disease Of Bone
Paget'S Bone Disease	Familial Paget Disease Of Bone
Paget Disease, Bone	Pdb
Pagets Bone Disease

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-RS15414	UFD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	UFD1	RGD	RGD:619822
Canis familiaris	UFD1	VGNC	VGNC:48114
Mus musculus	UFD1	MGD	MGI:109353
Felis catus	UFD1	VGNC	VGNC:66802
Bos taurus	UFD1	VGNC	VGNC:36645
Macaca mulatta	UFD1	VGNC	VGNC:98472

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

UFD1 - ubiquitin recognition factor in ER associated degradation 1 Gene

关于 UFD1

功能概要

UFD1 基因产物(3)

UFD1 蛋白结构

UFD1 蛋白互作信息

UFD1 抗体

关联疾病

直系同源

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UFD1 - ubiquitin recognition factor in ER associated degradation 1 Gene

关于 UFD1

功能概要

UFD1 基因产物(3)

UFD1 蛋白结构

UFD1 蛋白互作信息

UFD1 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z