UBR1, Official Symbol UBR1provided by HGNC Official Full Name ubiquitin protein ligase E3 component n-recognin 1provided by HGNC Primary source HGNC:HGNC:16808 See related Ensembl:ENSG00000159459 MIM:605981; AllianceGenome:HGNC:16808 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JBS Summary 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] Expression Ubiquitous expression in thyroid (RPKM 7.4), endometrium (RPKM 6.3) and 25 other tissues See more Orthologs mouse all