UFD1 (ubiquitin recognition factor in ER associated degradation 1)

2017-04-01  

Identity

HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
UFD1L

Other Information

Locus ID:

NCBI: 7353
MIM: 601754
HGNC: 12520
Ensembl: ENSG00000070010

Variants:

dbSNP: 7353
ClinVar: 7353
TCGA: ENSG00000070010
COSMIC: UFD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070010ENST00000263202Q92890
ENSG00000070010ENST00000263202Q541A5
ENSG00000070010ENST00000399523Q92890
ENSG00000070010ENST00000421968C9IZG3
ENSG00000070010ENST00000447868C9JNP9
ENSG00000070010ENST00000474226C9J7C8
ENSG00000070010ENST00000494054C9J6N9

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
p97-Ufd1-Npl4 complexKEGGhsa_M00400
HRD1/SEL1 ERAD complexKEGGhsa_M00403
HRD1/SEL1 ERAD complexKEGGM00403
p97-Ufd1-Npl4 complexKEGGM00400
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DNA RepairREACTOMER-HSA-73894
DNA Damage BypassREACTOMER-HSA-73893
Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA templateREACTOMER-HSA-110313
Translesion Synthesis by POLHREACTOMER-HSA-110320
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
176811472007Ufd1 is a cofactor of gp78 and plays a key role in cholesterol metabolism by regulating the stability of HMG-CoA reductase.41
285122182017Ubiquitin- and ATP-dependent unfoldase activity of P97/VCP•NPLOC4•UFD1L is enhanced by a mutation that causes multisystem proteinopathy.41
214869452011Cdc48/p97-Ufd1-Npl4 antagonizes Aurora B during chromosome segregation in HeLa cells.26
232930212013Complex of Fas-associated factor 1 (FAF1) with valosin-containing protein (VCP)-Npl4-Ufd1 and polyubiquitinated proteins promotes endoplasmic reticulum-associated degradation (ERAD).20
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
215716472011Ubiquitin-recognition protein Ufd1 couples the endoplasmic reticulum (ER) stress response to cell cycle control.18
242485932014The p97-UFD1L-NPL4 protein complex mediates cytokine-induced IκBα proteolysis.17
207024142010The p97 ATPase dislocates MHC class I heavy chain in US2-expressing cells via a Ufd1-Npl4-independent mechanism.13
261124102015The Transitional Endoplasmic Reticulum ATPase p97 Regulates the Alternative Nuclear Factor NF-κB Signaling via Partial Degradation of the NF-κB Subunit p100.11
244298742014The p97-Ufd1-Npl4 ATPase complex ensures robustness of the G2/M checkpoint by facilitating CDC25A degradation.10

Citation

Dessen P

UFD1 (ubiquitin recognition factor in ER associated degradation 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56823/ufd1