Statements (22)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
gptkb:gene |
gptkbp:associatedWith |
CATCH22 syndrome
|
gptkbp:encodes |
Ubiquitin fusion degradation protein 1 homolog
|
gptkbp:Entrez_Gene_ID |
7353
|
gptkbp:expressedIn |
gptkb:human
|
gptkbp:function |
gptkb:endoplasmic_reticulum-associated_degradation_(ERAD)
protein degradation |
gptkbp:HGNC_ID |
12591
|
https://www.w3.org/2000/01/rdf-schema#label |
UFD1L
|
gptkbp:interactsWith |
gptkb:VCP
gptkb:NPL4 |
gptkbp:involvedIn |
ubiquitin-dependent protein catabolic process
|
gptkbp:locatedOnChromosome |
chromosome 22
|
gptkbp:mutationAssociatedWith |
gptkb:velocardiofacial_syndrome
congenital heart defects |
gptkbp:OMIM |
603722
|
gptkbp:orthologInMouse |
Ufd1l
|
gptkbp:UniProtID |
O94874
|
gptkbp:bfsParent |
gptkb:VCP
gptkb:p97/VCP |
gptkbp:bfsLayer |
7
|