Version 5.4
Homo sapiens Protein: UBR1
Summary
InnateDB Protein IDBP-746589.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UBR1
Protein Name
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000456327
InnateDB Gene IDBG-8138 (UBR1)
Protein Structure
UniProt Annotation
Function E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth. {ECO:0000269PubMed:15548684, ECO:0000269PubMed:16311597, ECO:0000269PubMed:20298436, ECO:0000269PubMed:20835242}.
Subcellular Localization Cytoplasm, cytosol {ECO:0000269PubMed:16311597}.
Disease Associations Johanson-Blizzard syndrome (JBS) [MIM:243800]: This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis. {ECO:0000269PubMed:16311597}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level). {ECO:0000269PubMed:15548684, ECO:0000269PubMed:16311597, ECO:0000269PubMed:9653112}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 61 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 61 [view]
Protein-Protein 61 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0008270 zinc ion binding
GO:0016874 ligase activity
GO:0070728 leucine binding
Biological Process
GO:0016567 protein ubiquitination
GO:0032007 negative regulation of TOR signaling
GO:0071233 cellular response to leucine
Cellular Component
GO:0005829 cytosol
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IWV7
PhosphoSite PhosphoSite-Q8IWV7
TrEMBL
UniProt Splice Variant
Entrez Gene 197131
UniGene Hs.591121
RefSeq
HUGO HGNC:16808
OMIM 605981
CCDS
HPRD 09342
IMGT
EMBL AF061556 AF525401 AH006181 AK027803 AY061886 BC113505 BC113507 CR749326
GenPept AAC23677 AAC39845 AAI13506 AAI13508 AAL32103 AAO14997 BAB55380 CAH18181

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca