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Aliases for UBR1 Gene

Aliases for UBR1 Gene

  • Ubiquitin Protein Ligase E3 Component N-Recognin 1 2 3 5
  • Ubiquitin-Protein Ligase E3-Alpha-1 3 4
  • Ubiquitin-Protein Ligase E3-Alpha-I 3 4
  • N-Recognin-1 3 4
  • Ubiquitin-Protein Ligase E3-Alpha 3
  • Ubiquitin Ligase E3 Alpha-I 3
  • E3a Ligase 3
  • EC 6.3.2.- 4
  • 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 Immune System and SMAD Signaling Network. GO annotations related to this gene include ligase activity and leucine binding. An important paralog of this gene is UBR3.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBR1 Gene

Genomics for UBR1 Gene

Regulatory Elements for UBR1 Gene

Promoters for UBR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UBR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UBR1 Gene

Chromosome:
15
Start:
42,942,897 bp from pter
End:
43,106,113 bp from pter
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 StructureGene 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
    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

Proteomics data for UBR1 Gene at MOPED

Post-translational modifications for UBR1 Gene

  • Ubiquitination at Lys 104, Lys 596, Lys 806, and Lys 1703
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for UBR1 Gene

Domains & Families for UBR1 Gene

Suggested Antigen Peptide Sequences for UBR1 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 1 RING-type zinc finger.
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 doesnt bind acetylated peptides.
Family:
  • Belongs to the UBR1 family.
Similarity:
  • Contains 1 RING-type zinc finger.
  • Contains 1 UBR-type zinc finger.
genes like me logo Genes that share domains with UBR1: view

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.

Enzyme Numbers (IUBMB) 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 IEA --
GO:0016874 ligase activity IEA --
GO:0070728 leucine binding IDA 20298436
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:

Animal Model Products

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
Jensen Localization Image for UBR1 Gene COMPARTMENTS Subcellular localization image for UBR1 gene
Compartment Confidence
cytosol 4
nucleus 3
plasma membrane 3

Gene Ontology (GO) - Cellular Components for UBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
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

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: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

(3) Drugs for UBR1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with UBR1: view

Transcripts for UBR1 Gene

Unigene Clusters for UBR1 Gene

Ubiquitin protein ligase E3 component n-recognin 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for UBR1 Gene

GeneLoc Exon Structure for
UBR1
ECgene alternative splicing isoforms for
UBR1

Expression for UBR1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for UBR1 Gene



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

Protein tissue co-expression partners for UBR1 Gene

- Elite partner

Primer Products

In Situ 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.

Orthologs for UBR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UBR1 35
  • 92.95 (n)
  • 94.28 (a)
UBR1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBR1 35
  • 93.96 (n)
  • 95.83 (a)
UBR1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubr1 35
  • 88.05 (n)
  • 92.57 (a)
Ubr1 16
Ubr1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBR1 35
  • 98.72 (n)
  • 98.46 (a)
UBR1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ubr1 35
  • 88.22 (n)
  • 92.17 (a)
oppossum
(Monodelphis domestica)
Mammalia UBR1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves UBR1 35
  • 75.88 (n)
  • 77.8 (a)
UBR1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBR1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ubr1 35
  • 66.46 (n)
  • 64.1 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7516 35
zebrafish
(Danio rerio)
Actinopterygii ubr1 35
  • 60.68 (n)
  • 56.79 (a)
ubr1 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9086 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ubr-1 36
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBR1 36
  • 15 (a)
ManyToMany
UBR2 36
  • 16 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03234 35
  • 40.27 (n)
  • 28.88 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubr1 35
  • 42.82 (n)
  • 28.78 (a)
Species with no ortholog for UBR1:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for UBR1 Gene

Paralogs for UBR1 Gene

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

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

Variants for UBR1 Gene

Sequence variations from dbSNP and Humsavar for UBR1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_024741 Johanson-Blizzard syndrome (JBS)
VAR_024742 Johanson-Blizzard syndrome (JBS)
rs34568456 - 43,043,277(+) AGGAC(A/T)TTGTT reference, missense
rs35069201 - 43,024,873(+) GTCTA(C/T)TGCCC reference, missense
rs3917223 - 42,963,993(-) TACCT(A/G/T)CAAAT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv525461 CNV Loss 19592680
nsv904134 CNV Gain 21882294
nsv515876 CNV Gain+Loss 19592680
nsv904135 CNV Loss 21882294
dgv2368n71 CNV Loss 21882294
dgv2369n71 CNV Loss 21882294
nsv904138 CNV Gain+Loss 21882294
nsv904146 CNV Gain 21882294
nsv904147 CNV Loss 21882294
nsv1511 CNV Insertion 18451855

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)

Relevant External Links for UBR1 Gene

HapMap Linkage Disequilibrium report
UBR1
Human Gene Mutation Database (HGMD)
UBR1

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

Disorders for UBR1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for UBR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
johanson-blizzard syndrome
  • jbs
urethral obstruction sequence
  • early urethral obstruction sequence
exocrine pancreatic insufficiency
rapadilino syndrome
  • absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
imperforate anus
  • anal atresia
- 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.

Relevant External Links for UBR1

Genetic Association Database (GAD)
UBR1
Human Genome Epidemiology (HuGE) Navigator
UBR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBR1
genes like me logo Genes that share disorders with UBR1: view

No data available for Genatlas for UBR1 Gene

Publications for UBR1 Gene

  1. The mouse and human genes encoding the recognition component of the N-end rule pathway. (PMID: 9653112) Kwon Y.T. … Varshavsky A. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 67
  2. Role of N-end rule ubiquitin ligases UBR1 and UBR2 in regulating the leucine-mTOR signaling pathway. (PMID: 20298436) Kume K. … Handa H. (Genes Cells 2010) 3 23
  3. 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 Med. Genet. 2008) 3 23
  4. Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. (PMID: 19006206) Elting M. … Cobben J.M. (Am. J. Med. Genet. A 2008) 3 23
  5. Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. (PMID: 19058315) Alkhouri N. … Zenker M. (World J. Gastroenterol. 2008) 3 23

Products for UBR1 Gene

Sources for UBR1 Gene

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