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Ubr1 ubiquitin protein ligase E3 component n-recognin 1 [ Mus musculus (house mouse) ]

Gene ID: 22222, updated on 2-Nov-2024

Summary

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Official Symbol
Ubr1provided by MGI
Official Full Name
ubiquitin protein ligase E3 component n-recognin 1provided by MGI
Primary source
MGI:MGI:1277977
See related
Ensembl:ENSMUSG00000027272 AllianceGenome:MGI:1277977
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables ubiquitin protein ligase activity. Involved in ubiquitin-dependent protein catabolic process via the N-end rule pathway. Acts upstream of or within ubiquitin-dependent protein catabolic process. Part of proteasome complex and ubiquitin ligase complex. Is expressed in several structures, including branchial arch; genitourinary system; limb bud; liver; and lung. Used to study Johanson-Blizzard syndrome. Human ortholog(s) of this gene implicated in Johanson-Blizzard syndrome and cardiovascular system disease. Orthologous to human UBR1 (ubiquitin protein ligase E3 component n-recognin 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 5.7), CNS E18 (RPKM 5.5) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Ubr1 in Genome Data Viewer
Location:
2 E5; 2 60.37 cM
Exon count:
48
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (120690753..120801246, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (120860272..120970760, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene StAR related lipid transfer domain containing 9 Neighboring gene codanin 1 Neighboring gene tau tubulin kinase 2 Neighboring gene STARR-seq mESC enhancer starr_05516 Neighboring gene STARR-positive B cell enhancer ABC_E3396 Neighboring gene expressed sequence AV039307 Neighboring gene STARR-positive B cell enhancer ABC_E5971 Neighboring gene STARR-positive B cell enhancer ABC_E147 Neighboring gene transmembrane protein 62 Neighboring gene small nucleolar RNA, C/D box 3B, pseudogene 2 Neighboring gene cyclin D-type binding-protein 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Impaired neurogenesis and cardiovascular development in mice lacking the E3 ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. An JY, et al. Proc Natl Acad Sci U S A, 2006 Apr 18. PMID 16606826, Free PMC Article
  2. Loss of Ubr1 promotes aneuploidy and accelerates B-cell lymphomagenesis in TLX1/HOX11-transgenic mice. Chen E, et al. Oncogene, 2006 Sep 21. PMID 16862188
  3. Behavioral characterization of mice lacking the ubiquitin ligase UBR1 of the N-end rule pathway. Balogh SA, et al. Genes Brain Behav, 2002 Nov. PMID 12882367
  4. An essential role of N-terminal arginylation in cardiovascular development. Kwon YT, et al. Science, 2002 Jul 5. PMID 12098698
  5. Synthetic heterovalent inhibitors targeting recognition E3 components of the N-end rule pathway. Lee MJ, et al. Proc Natl Acad Sci U S A, 2008 Jan 8. PMID 18162545, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle.
    Title: Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle.
  2. A STAT3-dependent E3 ubiquitin ligase, Ubr1, was responsible for rhodopsin degradation and was up-regulated in the inflamed SOCS3-deficient retinas.
    Title: Roles of STAT3/SOCS3 pathway in regulating the visual function and ubiquitin-proteasome-dependent degradation of rhodopsin during retinal inflammation.
  3. involved in learning and memory; behavioral characterizations of UBR1 knockout mice
    Title: Behavioral characterization of mice lacking the ubiquitin ligase UBR1 of the N-end rule pathway.
  4. UBR1-/-UBR2-/- embryos die at midgestation, with defects in neurogenesis and cardiovascular development.
    Title: Impaired neurogenesis and cardiovascular development in mice lacking the E3 ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.
  5. TLX1/HOX11 overexpression and Ubr1 inactivation in promoting chromosome missegregation, permitting the accrual of additional chromosome losses and cytogenic abnormalities en route to malignancy
    Title: Loss of Ubr1 promotes aneuploidy and accelerates B-cell lymphomagenesis in TLX1/HOX11-transgenic mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (1)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables L-leucine binding IEA
Inferred from Electronic Annotation
more info
  
enables L-leucine binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin protein ligase activity ISO
Inferred from Sequence Orthology
more info
  
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin-protein transferase activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cellular response to L-leucine ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to L-leucine ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of TOR signaling ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of TOR signaling ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ubiquitin-dependent protein catabolic process via the N-end rule pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ubiquitin-dependent protein catabolic process via the N-end rule pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ubiquitin-dependent protein catabolic process via the N-end rule pathway ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of proteasome complex IGI
Inferred from Genetic Interaction
more info
 PubMed 
part_of ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ubiquitin ligase complex IGI
Inferred from Genetic Interaction
more info
 PubMed 

General protein information

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Preferred Names
E3 ubiquitin-protein ligase UBR1
Names
E3 alpha
N-recognin-1
RING-type E3 ubiquitin transferase UBR1
ubiquitin-protein ligase E3-alpha-1
ubiquitin-protein ligase E3-alpha-I
ubiquitin-protein ligase e3 componen n-recognin
NP_033487.2
XP_006499227.1
XP_011237742.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_009461.3 → NP_033487.2  E3 ubiquitin-protein ligase UBR1

    See identical proteins and their annotated locations for NP_033487.2

    Status: VALIDATED

    Source sequence(s)
    AL844548, AL935168
    Consensus CDS
    CCDS16628.1
    UniProtKB/Swiss-Prot
    A2AQ54, O70481, Q5BKR8, Q792M3, Q8BN40, Q8C5K3
    UniProtKB/TrEMBL
    Q2M4I1
    Related
    ENSMUSP00000028728.6, ENSMUST00000028728.6
    Conserved Domains (2) summary
    pfam02207
    Location:99 → 166
    zf-UBR; Putative zinc finger in N-recognin (UBR box)
    pfam02617
    Location:221 → 301
    ClpS; ATP-dependent Clp protease adaptor protein ClpS

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    120690753..120801246 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006499164.4 → XP_006499227.1  E3 ubiquitin-protein ligase UBR1 isoform X1

    UniProtKB/TrEMBL
    Q2M4I1
    Conserved Domains (4) summary
    cd00162
    Location:1101 → 1203
    RING_Ubox; RING-H2 finger (C3H2C3-type) [structural motif]
    pfam02207
    Location:98 → 166
    zf-UBR; Putative zinc finger in N-recognin (UBR box)
    pfam02617
    Location:221 → 301
    ClpS; ATP-dependent Clp protease adaptor protein ClpS
    cl17238
    Location:1097 → 1215
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

  2. XM_011239440.4 → XP_011237742.1  E3 ubiquitin-protein ligase UBR1 isoform X2

    Conserved Domains (2) summary
    cd00162
    Location:333 → 435
    RING_Ubox; RING-H2 finger (C3H2C3-type) [structural motif]
    cl17238
    Location:329 → 447
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

RNA

  1. XR_004939522.1 RNA Sequence

  2. XR_003952081.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O70481.2 GenPept UniProtKB/Swiss-Prot:O70481

Gene LinkOut

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