InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UBR1

Summary

InnateDB Protein

IDBP-8140.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UBR1

Protein Name

ubiquitin protein ligase E3 component n-recognin 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000290650

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:0004842	ubiquitin-protein transferase activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0016874	ligase activity
GO:0070728	leucine binding

Biological Process

GO:0006511	ubiquitin-dependent protein catabolic process
GO:0016567	protein ubiquitination
GO:0030163	protein catabolic process
GO:0032007	negative regulation of TOR signaling
GO:0071233	cellular response to leucine

Cellular Component

GO:0000151	ubiquitin ligase complex
GO:0000502	proteasome complex
GO:0005829	cytosol

Protein Structure and Domains

PDB ID

InterPro

IPR003126 Zinc finger, N-recognin
IPR003769 Adaptor protein ClpS, core
IPR013993 Zinc finger, N-recognin, metazoa
IPR014719 Ribosomal protein L7/L12, C-terminal/adaptor protein ClpS-like

PFAM

PF02207
PF02617

PRINTS

PIRSF

SMART

SM00396

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8IWV7