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
BX648400 - Homo sapiens mRNA; cDNA DKFZp686M07224 (from clone DKFZp686M07224). BC113505 - Homo sapiens ubiquitin protein ligase E3 component n-recognin 1, mRNA (cDNA clone MGC:142065 IMAGE:8322557), complete cds. BC113507 - Homo sapiens ubiquitin protein ligase E3 component n-recognin 1, mRNA (cDNA clone MGC:142067 IMAGE:8322559), complete cds. AY061886 - Homo sapiens ubiquitin ligase E3 alpha-I mRNA, complete cds. AF525401 - Homo sapiens UBR1 E3a ligase mRNA, partial cds. AK127478 - Homo sapiens cDNA FLJ45570 fis, clone BRTHA3010530, highly similar to Mus musculus ubiquitin protein ligase E3 component n-recognin 1. AK054969 - Homo sapiens cDNA FLJ30407 fis, clone BRACE2008553. JD229960 - Sequence 210984 from Patent EP1572962. JD059211 - Sequence 40235 from Patent EP1572962. JD402836 - Sequence 383860 from Patent EP1572962. AK302489 - Homo sapiens cDNA FLJ52107 complete cds, highly similar to Ubiquitin-protein ligase E3 component N-recognin-1 (EC 6.-.-.-). AF061556 - Homo sapiens ubiquitin-protein ligase E3-alpha (UBR1) mRNA, partial cds. AK027803 - Homo sapiens cDNA FLJ14897 fis, clone PLACE1004743, weakly similar to PROBABLE N-END-RECOGNIZING PROTEIN. AK056441 - Homo sapiens cDNA FLJ31879 fis, clone NT2RP7002619, highly similar to Mus musculus ubiquitin-protein ligase E3-alpha (Ubr1) mRNA. AK292516 - Homo sapiens cDNA FLJ77190 partial cds, highly similar to Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA. JD053919 - Sequence 34943 from Patent EP1572962. CR749326 - Homo sapiens mRNA; cDNA DKFZp313K1225 (from clone DKFZp313K1225).
Biochemical and Signaling Pathways
BioCyc Knowledge Library PWY-7511 - protein ubiquitination
Reactome (by CSHL, EBI, and GO)
Protein Q8IWV7 (Reactome details) participates in the following event(s):
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex R-HSA-983147 Release of E3 from polyubiquitinated substrate R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2 R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation R-HSA-983169 Class I MHC mediated antigen processing & presentation R-HSA-1280218 Adaptive Immune System R-HSA-168256 Immune System
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