UFD1 - ubiquitin recognition factor in ER associated degradation 1 Gene

Homo sapiens

Also known as UFD1L

Gene ID: 7353 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11574150	GOA

Biological Process GO Annotation	Evidence	Reference	Source
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	Reference	Source
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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82607	UFD1 Antibody (YA2352)	WB	Human

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15414	UFD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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