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UFD1 - ubiquitin recognition factor in ER associated degradation 1 Gene

Also Known as UFD1L

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 7353

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	11574150	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in ERAD pathway	IMP IMP: Inferred from mutant phenotype	24089527	GOA
involved in cellular response to misfolded protein	IMP IMP: Inferred from mutant phenotype	24089527	GOA
involved in negative regulation of RIG-I signaling pathway	IMP IMP: Inferred from mutant phenotype	26471729	GOA
involved in negative regulation of type I interferon production	IMP IMP: Inferred from mutant phenotype	26471729	GOA
involved in retrograde protein transport, ER to cytosol	IMP IMP: Inferred from mutant phenotype	25660456	GOA
involved in ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	26471729	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
part of UFD1-NPL4 complex	IPI IPI: Inferred from physical interaction	11574150	GOA
part of VCP-NPL4-UFD1 AAA ATPase complex	IDA IDA: Inferred from direct assay	26471729	GOA
part of VCP-NPL4-UFD1 AAA ATPase complex	IPI IPI: Inferred from physical interaction	20414249	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UFD1 Protein Structure

UFD1

0
100
200
307 a.a.

Protein Preferred Names	Protein Names
ubiquitin recognition factor in ER-associated degradation protein 1	UB fusion protein 1

UFD1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	UFD1	Q92890	NPLOC4	Homo sapiens	Q8TAT6	Y2H Prey Pooling	32296183
Intra	UFD1	Q92890	NPLOC4	Homo sapiens	Q8TAT6	Anti Tag CoIP	33961781
Intra	UFD1	Q92890	NPLOC4	Homo sapiens	Q8TAT6	Y2H Array	32296183
Intra	UFD1	Q92890	VCP	Homo sapiens	P55072	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

UFD1 抗体

製品番号	製品名	アプリケーション	反応性
HY-P82607	UFD1L Antibody (YA2352)	WB	Human
HY-P82607A	UFD1L Antibody (YA2352)(PBS only)	WB	Human
HY-P84712	UFD1L Antibody (YA4409)	WB, IHC-P, ICC/IF, FC, ELISA	Human
HY-P84712A	UFD1L Antibody (YA4409)(PBS only)	WB, IHC-P, ICC/IF, FC, ELISA	Human

関連疾患

Diseases	Alias
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

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

Pre-clinical Phase

Bioactive Molecules (2)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-W111581	Copper(II) diethyldithiocarbamate	Inducer	98.5%	Unkown
HY-RS15414	UFD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	UFD1	NCBI