UBR1 Gene (Protein Coding)

Ubiquitin Protein Ligase E3 Component N-Recognin 1

GC15M042942
GIFtS:
43
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

  • Ubiquitin Protein Ligase E3 Component N-Recognin 1 2 3 5
  • RING-Type E3 Ubiquitin Transferase UBR1 3 4
  • Ubiquitin-Protein Ligase E3-Alpha-1 3 4
  • Ubiquitin-Protein Ligase E3-Alpha-I 3 4
  • E3 Ubiquitin-Protein Ligase UBR1 3 4
  • N-Recognin-1 3 4
  • Ubiquitin-Protein Ligase E3-Alpha 3
  • Ubiquitin Ligase E3 Alpha-I 3
  • EC 2.3.2.27 4
  • E3a Ligase 3
  • UBR1 5
  • JBS 3

External Ids for UBR1 Gene

Previous GeneCards Identifiers for UBR1 Gene

  • GC15M038676
  • GC15M036130
  • GC15M040814
  • GC15M040953
  • GC15M041024
  • GC15M043235
  • GC15M020083

Summaries for UBR1 Gene

Entrez Gene Summary 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.

Gene Wiki entry for UBR1 Gene

Additional gene information for UBR1 Gene

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

Download GeneHancer 2017 data
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:
UBR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBR1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for UBR1 Gene

Proteins for UBR1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for UBR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWV7-UBR1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase UBR1
    Protein Accession:
    Q8IWV7
    Secondary Accessions:
    • 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};

    Three dimensional structures from OCA and Proteopedia for UBR1 Gene

    Alternative splice isoforms for UBR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBR1 Gene

Protein Expression for UBR1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for UBR1 Gene

  • Ubiquitination at Lys104, Lys596, Lys806, and Lys1703
  • Modification sites at PhosphoSitePlus

Other Protein References for UBR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies 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

Q8IWV7

UniProtKB/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.
genes like me logo Genes that share domains with UBR1: view

Function for UBR1 Gene

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  2. CRISPR
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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

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with UBR1: view
genes like me logo Genes that share phenotypes with UBR1: view

Human Phenotype Ontology for UBR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UBR1 Gene

MGI Knock Outs for UBR1:
  • Ubr1 Ubr1<tm1Avar>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBR1 gene
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBR1 Gene

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 --
genes like me logo Genes that share ontologies with UBR1: view

Pathways & Interactions for UBR1 Gene

genes like me logo Genes that share pathways with UBR1: view

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.

SIGNOR curated interactions for UBR1 Gene

Activates:

Gene Ontology (GO) - Biological Process for UBR1 Gene

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
genes like me logo Genes that share ontologies with UBR1: view

Drugs & Compounds for UBR1 Gene

Products:

  1. Drug

(3) Drugs for UBR1 Gene - From: HMDB

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

(1) Additional Compounds for UBR1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
 14000-31-8
genes like me logo Genes that share compounds with UBR1: view

Transcripts for UBR1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBR1

Alternative Splicing Database (ASD) splice patterns (SP) for UBR1 Gene

No ASD Table

Relevant External Links for UBR1 Gene

GeneLoc Exon Structure for
UBR1

Expression for UBR1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBR1 Gene

mRNA expression in normal human tissues for UBR1 Gene
mRNA expression by BioGPS for UBR1 GenemRNA expression by GTEx for UBR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBR1 Gene

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



Protein tissue co-expression partners 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.591121

mRNA 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
genes like me logo Genes that share expression patterns with UBR1: view

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.

Orthologs for UBR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia UBR1 30 31
  • 98.72 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia UBR1 30 31
  • 93.96 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia UBR1 30 31
  • 92.95 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ubr1 30
  • 88.22 (n)
Mouse
(Mus musculus)
 Mammalia Ubr1 30 17 31
  • 88.05 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia UBR1 31
  • 81 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 76 (a)
 OneToMany
-- 31
  • 74 (a)
 OneToMany
-- 31
  • 62 (a)
 OneToMany
-- 31
  • 57 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves UBR1 30 31
  • 75.88 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia UBR1 31
  • 75 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ubr1 30
  • 66.46 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7516 30
Zebrafish
(Danio rerio)
 Actinopterygii ubr1 30 31
  • 60.68 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG9086 31
  • 30 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea ubr-1 31
  • 26 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes UBR2 31
  • 16 (a)
 ManyToMany
UBR1 31
  • 15 (a)
 ManyToMany
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes ubr1 30
  • 42.82 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU03234 30
  • 40.27 (n)
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

Paralogs for UBR1 Gene

(2) SIMAP similar genes for UBR1 Gene using alignment to 7 proteins:

  • UBR1_HUMAN
  • H3BNQ6_HUMAN
  • H3BQF8_HUMAN
  • H3BS20_HUMAN
  • H3BUC4_HUMAN
  • H3BUZ4_HUMAN
  • L8E998_HUMAN
genes like me logo Genes that share paralogs with UBR1: view

Variants for UBR1 Gene

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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

Additional dbSNP identifiers (rs#s) for UBR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for UBR1 Gene

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

Variation tolerance for UBR1 Gene

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

Human Gene Mutation Database (HGMD)
UBR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBR1 Gene

Disorders for UBR1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for UBR1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
johanson-blizzard syndrome
  • jbs
urethral obstruction sequence
  • early urethral obstruction sequence
exocrine pancreatic insufficiency
pancreatitis
rapadilino syndrome
  • absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
- elite association - COSMIC cancer census association via MalaCards
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)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with UBR1: view

No data available for Genatlas for UBR1 Gene

Publications for UBR1 Gene

  1. 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
  2. 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
  3. 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
  4. Mutations in the human UBR1 gene and the associated phenotypic spectrum. (PMID: 24599544) Sukalo M … Zenker M (Human mutation 2014) 3 4
  5. 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

View latest publications for UBR1 gene in Mastermind

Products for UBR1 Gene

  • Signalway ELISA kits for UBR1
  • Signalway Proteins for UBR1

Sources for UBR1 Gene