UBR1

The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]

Description

ubiquitin protein ligase E3 component n-recognin 1

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

15:q15.2 (42942897 - 43106113)

Ensembl ID

ENSG00000159459  (ver. 84.38)

Orthologs

Mouse Ubr1: ENSMUSG00000027272

UniProt

Q8IWV7

neXtProt

NX_Q8IWV7

Human splice variants
Mouse splice variants