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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr15:42,942,897-43,106,038)mRNA (may differ from genome)Protein (1749 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards

-  Comments and Description Text from UniProtKB
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;

-  Primer design for this transcript

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: UBR1
Diseases sorted by gene-association score: johanson-blizzard syndrome* (1713), urethral obstruction sequence (18), exocrine pancreatic insufficiency (12), rapadilino syndrome (6), pancreatitis (4), joubert syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.71 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 224.79 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00160.000 Picture PostScript Text
3' UTR -584.702432-0.240 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003769 - ClpS_core
IPR014719 - Ribosomal_L7/12_C/ClpS-like
IPR003126 - Znf_N-recognin
IPR013993 - Znf_N-recognin_met

Pfam Domains:
PF02617 - ATP-dependent Clp protease adaptor protein ClpS
PF02207 - Putative zinc finger in N-recognin (UBR box)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3NY1 - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q8IWV7
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity
GO:0070728 leucine binding

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

Cellular Component:
GO:0000151 ubiquitin ligase complex
GO:0000502 proteasome complex
GO:0005737 cytoplasm
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  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

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000290650.1, ENST00000290650.2, ENST00000290650.3, ENST00000290650.4, ENST00000290650.5, ENST00000290650.6, ENST00000290650.7, ENST00000290650.8, NM_174916, O60708, O75492, Q14D45, Q68DN9, Q8IWV7, Q8IWY6, Q96JY4, UBR1_HUMAN, uc001zqq.1, uc001zqq.2, uc001zqq.3, uc001zqq.4, uc001zqq.5
UCSC ID: ENST00000290650.9
RefSeq Accession: NM_174916
Protein: Q8IWV7 (aka UBR1_HUMAN)
CCDS: CCDS10091.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene UBR1:
pancreatitis-ov (Pancreatitis Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.