Gene id |
7353 |
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
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 |
|
Other Databases |
GeneCards: UFD1 Malacards: UFD1 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0036501 |
UFD1-NPL4 complex
|
IPI |
cellular component |
GO:0071712 |
ER-associated misfolded p rotein catabolic process
|
IMP |
biological process |
GO:0034098 |
VCP-NPL4-UFD1 AAA ATPase complex
|
ISS |
cellular component |
GO:0030970 |
retrograde protein transp ort, ER to cytosol
|
IMP |
biological process |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0071712 |
ER-associated misfolded p rotein catabolic process
|
IBA |
biological process |
GO:0031593 |
polyubiquitin modificatio n-dependent protein bindi ng
|
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 prote in catabolic process
|
IMP |
biological process |
GO:0032480 |
negative regulation of ty pe I interferon productio n
|
IMP |
biological process |
GO:0039536 |
negative regulation of RI G-I signaling pathway
|
IMP |
biological process |
GO:0006511 |
ubiquitin-dependent prote in catabolic process
|
IEA |
biological process |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0004843 |
thiol-dependent ubiquitin -specific protease activi ty
|
TAS |
molecular function |
GO:0001501 |
skeletal system developme nt
|
TAS |
biological process |
GO:0006511 |
ubiquitin-dependent prote in 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 sy nthesis
|
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 comple x binding
|
IEA |
molecular function |
GO:0034098 |
VCP-NPL4-UFD1 AAA ATPase complex
|
IEA |
cellular component |
GO:0005102 |
signaling receptor bindin g
|
IEA |
molecular function |
GO:0036435 |
K48-linked polyubiquitin modification-dependent pr otein 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 ubiqu itin-dependent protein ca tabolic process
|
IEA |
biological process |
GO:0005634 |
nucleus
|
HDA |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
|
|
Pathway id | Pathway name |
hsa04141 | Protein processing in endoplasmic reticulum | |
|
Associated diseases |
References |
DiGeorge syndrome | PMID:10024240 |
Schizophrenia | PMID:11496370 |
Cryptorchidism | MIK: 28606200 |
Teratozoospermia | MIK: 17327269 |
Unexplained infertility | MIK: 25753583 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
25753583 |
Unexplaine d infertil ity
|
|
|
46 (17 fertile men, 29 male pa tients)
|
Male infertility |
Microarray
|
Show abstract |
|