{"symbol":"UBR1","synonyms":["JBS"],"name":"ubiquitin protein ligase E3 component n-recognin 1","description":"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]","ncbiEntrezGeneId":197131,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/197131","proteins":[{"symbol":"UBR1_HUMAN","href":"/api/1.0/protein/UBR1_HUMAN"}],"hgncRootFamilies":[{"name":"Ubiquitin protein ligase E3 component n-recognins (UBR)","href":"/api/1.0/gene_family/Ubiquitin+protein+ligase+E3+component+n-recognins+%28UBR%29"}]}