UBR1 ubiquitin protein ligase E3 component n-recognin 1
Gene ID: 197131, updated on 17-Aug-2024Gene type: protein coding
Also known as: JBS
- See all available tests in GTR for this gene
- Go to complete Gene record for UBR1
- Go to Variation Viewer for UBR1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Johanson-Blizzard syndrome | See labs |
Genomic context
- Location:
- 15q15.2
- Sequence:
- Chromosome: 15; NC_000015.10 (42942897..43106038, complement)
- Total number of exons:
- 47
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UBR1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- UBR1 database
- Variation ViewerRelated Variants
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