Human Gene UBR1 (ENST00000290650.9) from GENCODE V44
Description: Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA. (from RefSeq NM_174916) RefSeq Summary (NM_174916): 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]. Gencode Transcript: ENST00000290650.9 Gencode Gene: ENSG00000159459.12 Transcript (Including UTRs) Position: hg38 chr15:42,942,897-43,106,038 Size: 163,142 Total Exon Count: 47 Strand: - Coding Region Position: hg38 chr15:42,945,329-43,106,022 Size: 160,694 Coding Exon Count: 47
ID:UBR1_HUMAN DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase UBR1; EC=6.3.2.-; AltName: Full=N-recognin-1; AltName: Full=Ubiquitin-protein ligase E3-alpha-1; AltName: Full=Ubiquitin-protein ligase E3-alpha-I; FUNCTION: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Interacts with RECQL4. SUBCELLULAR LOCATION: Cytoplasm, cytosol. TISSUE SPECIFICITY: Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level). DEVELOPMENTAL STAGE: Expressed in fetal pancreas. DOMAIN: The RING-H2 zinc finger is an atypical RING finger with a His ligand in place of the fourth Cys of the classical motif. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in UBR1 are a cause of Johanson-Blizzard syndrome (JBS) [MIM:243800]. This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. Pancreas of individuals with JBS do not express UBR1 and show intrauterine- onset destructive pancreatitis. SIMILARITY: Belongs to the UBR1 family. SIMILARITY: Contains 1 RING-type zinc finger. SIMILARITY: Contains 1 UBR-type zinc finger. SEQUENCE CAUTION: Sequence=BAB55380.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8IWV7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006511 ubiquitin-dependent protein catabolic process GO:0016567 protein ubiquitination GO:0030163 protein catabolic process GO:0032007 negative regulation of TOR signaling GO:0071233 cellular response to leucine GO:0071596 ubiquitin-dependent protein catabolic process via the N-end rule pathway