E3 ubiquitin-protein ligase UBR1; N-recognin-1; ubiquitin-protein ligase E3-alpha-1; ubiquitin-protein ligase E3-alpha-I (UBR1)

Function

• ubiquitin ligase protein, ubiquitin conjugation, 3rd step
• component of the N-end rule pathway
• recognizes & binds to proteins bearing specific amino- terminal residues that are destabilizing according to the N-end rule, leading to ubiquitination & subsequent degradation
• pancreatic homeostasis
• interacts with RECQL4

Structure

• the RING-H2 Zn+2 finger is an atypical RING finger with a His ligand in place of the fourth Cys of the classical motif
• belongs to the UBR1 family
• contains 1 RING-type Zn+2 finger
• contains 1 UBR-type Zn+2 finger

Compartment

cytoplasm; cytosol

Alternative splicing

named isoforms=2

Expression

• broadly expressed
• highest levels in skeletal muscle, kidney, pancreas, acinar cells of pancreas, fetal pancreas

Pathology

• defects in UBR1 are a cause of Johanson-Blizzard syndrome

More general terms

• E3 ubiquitin ligase
• zinc finger protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=197131
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:197131
• OMIM: https://mirror.omim.org/entry/243800
• OMIM: https://mirror.omim.org/entry/605981
• UniProt: http://www.uniprot.org/uniprot/Q8IWV7.html