• Gene id: 7353

Gene Summary

• Gene Symbol: UFD1   Gene   UCSC   Ensembl
• Aliases: UFD1L
• Gene name: ubiquitin recognition factor in ER associated degradation 1
• Alternate names: ubiquitin recognition factor in ER-associated degradation protein 1, UB fusion protein 1, ubiquitin fusion degradation 1 like, ubiquitin fusion degradation protein 1 homolog,
• Gene location: 22q11.21 (66958417: 66848419)     Exons: 32     NC_000011.10
• Gene summary(Entrez): 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 di
• OMIM: 601754

Protein Summary

• Protein general information: Q92890  
  • Name: Ubiquitin recognition factor in ER associated degradation protein 1 (Ubiquitin fusion degradation protein 1) (UB fusion protein 1)
  • Length: 307  
  • Mass: 34500
  • Tissue specificity: Found in adult heart, skeletal muscle and pancreas, and in fetal liver and kidney.
• Sequence:

  MFSFNMFDHPIPRVFQNRFSTQYRCFSVSMLAGPNDRSDVEKGGKIIMPPSALDQLSRLNITYPMLFKLTNKNSD
  RMTHCGVLEFVADEGICYLPHWMMQNLLLEEGGLVQVESVNLQVATYSKFQPQSPDFLDITNPKAVLENALRNFA
  CLTTGDVIAINYNEKIYELRVMETKPDKAVSIIECDMNVDFDAPLGYKEPERQVQHEESTEGEADHSGYAGELGF
  RAFSGSGNRLDGKKKGVEPSPSPIKPGDIKRGIPNYEFKLGKITFIRNSRPLVKKVEEDEAGGRFVAFSGEGQSL
  RKKGRKP

• Structural information:
  • Interpro: IPR004854  IPR042299  
  • PDB: 2YUJ 5B6C 5C1B
  • PDBsum: 2YUJ 5B6C 5C1B
  • DIP: 45954
  • STRING: ENSP00000263202
• Other Databases: GeneCards:  UFD1  Malacards:  UFD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036501	UFD1-NPL4 complex	IPI	cellular component
GO:0071712	ER-associated misfolded protein catabolic process	IMP	biological process
GO:0034098	VCP-NPL4-UFD1 AAA ATPase complex	ISS	cellular component
GO:0030970	retrograde protein transport, ER to cytosol	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071712	ER-associated misfolded protein catabolic process	IBA	biological process
GO:0031593	polyubiquitin modification-dependent protein binding	IBA	molecular function
GO:0034098	VCP-NPL4-UFD1 AAA ATPase complex	IBA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0034098	VCP-NPL4-UFD1 AAA ATPase complex	IDA	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0032480	negative regulation of type I interferon production	IMP	biological process
GO:0039536	negative regulation of RIG-I signaling pathway	IMP	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0070987	error-free translesion synthesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051117	ATPase binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0034098	VCP-NPL4-UFD1 AAA ATPase complex	IEA	cellular component
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0036435	K48-linked polyubiquitin modification-dependent protein binding	IEA	molecular function
GO:0034098	VCP-NPL4-UFD1 AAA ATPase complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0036501	UFD1-NPL4 complex	IEA	cellular component
GO:0036501	UFD1-NPL4 complex	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0005634	nucleus	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
DiGeorge syndrome	PMID:10024240
Schizophrenia	PMID:11496370
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray