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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]
UBR1 (Ubiquitin Protein Ligase E3 Component N-Recognin 1) is a Protein Coding gene. Diseases associated with UBR1 include Johanson-Blizzard Syndrome and Urethral Obstruction Sequence. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and leucine binding. An important paralog of this gene is UBR2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | ubiquitin-protein transferase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 16169070 |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000151 | ubiquitin ligase complex | IEA,IBA | 21873635 |
GO:0000502 | proteasome complex | IEA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | PEDF Induced Signaling |
RAR-Gamma-RXR-Alpha Degradation
.62
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3 | SMAD Signaling Network |
SMAD Signaling Network
-
|
|
4 | Ubiquitin-Proteasome Dependent Proteolysis |
Ubiquitin-Proteasome Dependent Proteolysis
-
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5 | Innate Immune System |
.61
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006511 | ubiquitin-dependent protein catabolic process | IEA | -- |
GO:0016567 | protein ubiquitination | IEA | -- |
GO:0030163 | protein catabolic process | IEA | -- |
GO:0032007 | negative regulation of TOR signaling | IMP | 20298436 |
GO:0071233 | cellular response to leucine | IDA | 20298436 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phosphoric acid | Approved | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | UBR1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | UBR1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | UBR1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ubr1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ubr1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | UBR1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | UBR1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | UBR1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ubr1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7516 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ubr1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9086 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ubr-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | UBR2 31 |
|
ManyToMany | |
UBR1 31 |
|
ManyToMany | |||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ubr1 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03234 30 |
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
31918 | Pathogenic: Johanson-Blizzard syndrome | 43,048,492(-) | C/T | SPLICE_ACCEPTOR_VARIANT | |
4681 | Pathogenic: Johanson-Blizzard syndrome | 43,022,697(-) | C/T | INTRON_VARIANT | |
708694 | Likely Benign: not provided | 43,054,855(-) | A/C | SYNONYMOUS_VARIANT | |
708839 | Likely Benign: not provided | 42,976,766(-) | A/G | SYNONYMOUS_VARIANT | |
709477 | Benign: not provided | 43,024,832(-) | T/C | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4500n54 | CNV | loss | 21841781 |
esv3636283 | CNV | gain | 21293372 |
esv3636285 | CNV | gain | 21293372 |
esv3892680 | CNV | loss | 25118596 |
nsv1036512 | CNV | gain | 25217958 |
nsv1048937 | CNV | gain | 25217958 |
nsv1511 | CNV | insertion | 18451855 |
nsv475705 | CNV | novel sequence insertion | 20440878 |
nsv515876 | CNV | gain+loss | 19592680 |
nsv525461 | CNV | loss | 19592680 |
nsv569241 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
johanson-blizzard syndrome |
|
|
urethral obstruction sequence |
|
|
exocrine pancreatic insufficiency |
|
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pancreatitis |
|
|
rapadilino syndrome |
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