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

Tissue specificity

Tissue enhanced (brain)

Subcell location

Nucleoplasm, Vesicles, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

15:q15.2 (42942897 - 43106113)

Ensembl ID

ENSG00000159459  (ver. 103.38)

Orthologs

Mouse Ubr1: ENSMUSG00000027272

UniProt

Q8IWV7

neXtProt

NX_Q8IWV7

Human splice variants
Mouse splice variants