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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 ... See more...
Aliases for UBR1 Gene
Aliases for UBR1 Gene
External Ids for UBR1 Gene
- HGNC: 16808
- Entrez Gene: 197131
- Ensembl: ENSG00000159459
- OMIM: 605981
- UniProtKB: Q8IWV7
Previous GeneCards Identifiers for UBR1 Gene
- GC15M038676
- GC15M036130
- GC15M040814
- GC15M040953
- GC15M041024
- GC15M043235
- GC15M020083
Summaries for UBR1 Gene
-
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]
GeneCards Summary for UBR1 Gene
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.
UniProtKB/Swiss-Prot Summary for UBR1 Gene
-
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.
Additional gene information for UBR1 Gene
- HGNC(16808)
- Entrez Gene(197131)
- Ensembl(ENSG00000159459)
- OMIM(605981)
- UniProtKB(Q8IWV7)
- Open Targets Platform(ENSG00000159459)
- Monarch Initiative
- Search for UBR1 at DataMed
- Search for UBR1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBR1 Gene
Genomics for UBR1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for UBR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around UBR1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBR1
- Top Transcription factor binding sites by QIAGEN in the UBR1 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- NF-kappaB
- Pbx1a
- POU2F1
- POU2F1a
- STAT3
- YY1
Genomic Locations for UBR1 Gene
Genomic Locations for UBR1 Gene
- chr15:42,942,897-43,106,113
- (GRCh38/hg38)
- Size:
- 163,217 bases
- Orientation:
- Minus strand
- chr15:43,235,095-43,398,311
- (GRCh37/hg19)
- Size:
- 163,217 bases
- Orientation:
- Minus strand
Genomic View for UBR1 Gene
Genes around UBR1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q15.2 by HGNC
- 15q15.2 by Entrez Gene
- 15q15.2 by Ensembl
UBR1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for UBR1 Gene
Proteins for UBR1 Gene
-
Protein details for UBR1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IWV7-UBR1_HUMAN
- Recommended name:
- E3 ubiquitin-protein ligase UBR1
- Protein Accession:
- Q8IWV7
- O60708
- O75492
- Q14D45
- Q68DN9
- Q8IWY6
- Q96JY4
Protein attributes for UBR1 Gene
- Size:
- 1749 amino acids
- Molecular mass:
- 200211 Da
- Quaternary structure:
-
- Interacts with RECQL4.
- SequenceCaution:
-
- Sequence=BAB55380.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for UBR1 Gene
Post-translational modifications for UBR1 Gene
Other Protein References for UBR1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ UBR1 Antibody
- Creative Diagnostics Anti-UBR1 monoclonal antibody, clone 5H8
- Creative Biolabs Recombinant Mouse Anti-Human UBR1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for UBR1
- Novus Biologicals Antibodies for UBR1
-
Abcam antibodies for UBR1
- Invitrogen Antibodies for UBR1 (AFLGC-UBR1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for UBR1
Protein Products
-
OriGene Purified Proteins for UBR1
- Search Origene for MassSpec and Protein Over-expression Lysates for UBR1
- Origene Custom Protein Services for UBR1
- antibodies-online: Show 2 available UBR1 Proteins ranked by validation data
- Compare Top UBR1 Proteins
-
Quality Products:
-
Signalway Proteins for UBR1
-
Abcam proteins for UBR1
Assay Products
- antibodies-online: Show 11 available UBR1 Elisa Kits ranked by validation data
- Compare Top UBR1 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for UBR1
No data available for DME Specific Peptides for UBR1 Gene
Domains & Families for UBR1 Gene
Gene Families for UBR1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for UBR1 Gene
- InterPro:
- Blocks:
-
- Zn-finger (putative), N-recognin
- Protein of unknown function DUF174
- Ribosomal protein S16
- ProtoNet:
Suggested Antigen Peptide Sequences for UBR1 Gene
- GenScript: Design optimal peptide antigens:
-
- Ubiquitin-protein ligase E3-alpha-I (UBR1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8IWV7UniProtKB/Swiss-Prot:
UBR1_HUMAN :- The RING-H2 zinc finger is an atypical RING finger with a His ligand in place of the fourth Cys of the classical motif.
- Belongs to the UBR1 family.
- 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.
- The UBR-type zinc finger forms a pocket that mediates recognition of type 1 N-degrons. It exhibits preference for Arginine in first position, has poor affinity for histidine, and doesn't bind acetylated peptides.
- Family:
-
- Belongs to the UBR1 family.
Function for UBR1 Gene
Molecular function for UBR1 Gene
- UniProtKB/Swiss-Prot 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.
Enzyme Numbers (IUBMB) for UBR1 Gene
Phenotypes From GWAS Catalog for UBR1 Gene
| 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 | -- |
Phenotypes for UBR1 Gene
- MGI mutant phenotypes for UBR1:
-
inferred from 1 alleles
- nervous system phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- embryo phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for UBR1:
-
- no effect
- Decreased vaccinia virus (VACV) infection
- Decreased viability
- Increased shRNA abundance (Z-score > 2)
- Increased G1 DNA content
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Increased endosome-nucleus distance (endosomes dispersed in the cell periphery)
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in esophageal squamous lineage
- G0/1 arrest
- Increased number of mitotic cells
- Decreased viability with paclitaxel
Animal Models for UBR1 Gene
- MGI Knock Outs for UBR1:
-
- Ubr1 Ubr1<tm1Avar>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for UBR1 - Select products 50% OFF >
- * UBR1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for UBR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UBR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for UBR1
miRNA for UBR1 Gene
- miRTarBase miRNAs that target UBR1
-
- hsa-miR-93-5p (MIRT028165)
- hsa-miR-193b-3p (MIRT041472)
- hsa-miR-92a-3p (MIRT049731)
- hsa-miR-25-3p (MIRT050218)
- hsa-miR-650 (MIRT512773)
- hsa-miR-3612 (MIRT512774)
- hsa-miR-1827 (MIRT512775)
- hsa-miR-6806-3p (MIRT512776)
- hsa-miR-3928-5p (MIRT512777)
- hsa-miR-873-5p (MIRT512778)
- hsa-miR-6796-3p (MIRT512779)
- hsa-miR-4695-5p (MIRT533352)
- mmu-miR-1958 (MIRT580106)
- mmu-miR-433-3p (MIRT580107)
- mmu-miR-5102 (MIRT594067)
- mmu-miR-1199-5p (MIRT594068)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UBR1
- Browse OriGene Inhibitory RNA Products For UBR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBR1
Clone Products
- Applied Biological Materials (abm): Clones for UBR1 - Select products 50% OFF >
- * UBR1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for UBR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UBR1
Cell Line Products
-
Horizon Cell Lines for UBR1
No data available for Transcription Factor Targets and HOMER Transcription for UBR1 Gene
Localization for UBR1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for UBR1 Gene
- Cytoplasm, cytosol.
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| plasma membrane | 3 |
| nucleus | 3 |
| endoplasmic reticulum | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (2)
- Vesicles (2)
| 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 | -- |
Pathways & Interactions for UBR1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | PEDF Induced Signaling |
RAR-Gamma-RXR-Alpha Degradation
.62
|
|
| 3 | SMAD Signaling Network |
SMAD Signaling Network
-
|
|
| 4 | Ubiquitin-Proteasome Dependent Proteolysis |
Ubiquitin-Proteasome Dependent Proteolysis
-
|
|
| 5 | Innate Immune System |
.61
|
|
Pathways by source for UBR1 Gene
1 BioSystems pathway for UBR1 Gene
3 Qiagen pathways for UBR1 Gene
- RAR-Gamma-RXR-Alpha Degradation
- SMAD Signaling Network
- Ubiquitin-Proteasome Dependent Proteolysis
UniProtKB/Swiss-Prot Q8IWV7-UBR1_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for UBR1 Gene
Selected Interacting proteins:
Q8IWV7-UBR1_HUMAN
ENSP00000290650
for UBR1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for UBR1
| 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 |
Drugs & Compounds for UBR1 Gene
| 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 |
|
Transcripts for UBR1 Gene
mRNA/cDNA for UBR1 Gene
- 1 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000290650 7698 nts (view in UCSC)
- ENST00000546274 3332 nts (view in UCSC)
- ENST00000562173 597 nts (view in UCSC)
- ENST00000563239 545 nts (view in UCSC)
- ENST00000564540 735 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for UBR1 - Select products 50% OFF >
- * UBR1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for UBR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UBR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for UBR1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UBR1
- Browse OriGene Inhibitory RNA Products For UBR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBR1
Clone Products
- Applied Biological Materials (abm): Clones for UBR1 - Select products 50% OFF >
- * UBR1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for UBR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UBR1
Relevant External Links for UBR1 Gene
- GeneLoc Exon Structure for
- UBR1
Expression for UBR1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
This gene is overexpressed in Plasma (21.5), Peripheral blood mononuclear cells (10.9), and Lymph node (7.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBR1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBR1
SOURCE GeneReport for Unigene cluster for UBR1 Gene:
Hs.591121mRNA Expression by UniProt/SwissProt for UBR1 Gene:
Q8IWV7-UBR1_HUMAN
Tissue specificity:
Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level).
Evidence on tissue expression from TISSUES for UBR1 Gene
- Nervous system(4.6)
- Heart(4.4)
- Blood(4.4)
- Liver(4.4)
- Muscle(2.2)
- Kidney(2.2)
- Pancreas(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for UBR1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- face
- head
- hypothalamus
- jaw
- lacrimal apparatus
- larynx
- mandible
- maxilla
- mouth
- neck
- nose
- pituitary gland
- scalp
- skull
- thyroid
- tooth
Thorax:
- breast
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
Pelvis:
- anus
- ovary
- pelvis
- penis
- rectum
- testicle
- ureter
- urethra
- urinary bladder
- uterus
- vagina
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for UBR1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for UBR1 Gene
Orthologs for UBR1 Gene
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 |
|
- Species where no ortholog for UBR1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for UBR1 Gene
- ENSEMBL:
- Gene Tree for UBR1 (if available)
- TreeFam:
- Gene Tree for UBR1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for UBR1: view image
Paralogs for UBR1 Gene
Variants for UBR1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBR1 Gene
| 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 |
Residual Variation Intolerance Score:
3.09% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.84;
67.19% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for UBR1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBR1 Gene
Disorders for UBR1 Gene
(8) MalaCards diseases for UBR1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| johanson-blizzard syndrome |
|
|
| urethral obstruction sequence |
|
|
| exocrine pancreatic insufficiency |
|
|
| pancreatitis |
|
|
| rapadilino syndrome |
|
|
Search UBR1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
UBR1_HUMAN- 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. {ECO:0000269 PubMed:16311597, ECO:0000269 PubMed:21931868, ECO:0000269 PubMed:22072859, ECO:0000269 PubMed:24599544, ECO:0000269 PubMed:26149651}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for UBR1
- Genetic Association Database
- (GAD)
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No data available for Genatlas for UBR1 Gene
Publications for UBR1 Gene
- Role of N-end rule ubiquitin ligases UBR1 and UBR2 in regulating the leucine-mTOR signaling pathway. (PMID: 20298436) Kume K … Handa H (Genes to cells : devoted to molecular & cellular mechanisms 2010) 3 4 23
- Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population. (PMID: 18366806) Yamaguchi Y … Itakura M (BMC medical genetics 2008) 3 23 41
- The mouse and human genes encoding the recognition component of the N-end rule pathway. (PMID: 9653112) Kwon YT … Varshavsky A (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4
- Mutations in the human UBR1 gene and the associated phenotypic spectrum. (PMID: 24599544) Sukalo M … Zenker M (Human mutation 2014) 3 4
- Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. (PMID: 21931868) Hwang CS … Zenker M (PloS one 2011) 3 4
ExternalLinks
Products for UBR1 Gene
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