About   Help   FAQ
Ubr1
Gene Detail
 Symbol
Name
ID
Ubr1
ubiquitin protein ligase E3 component n-recognin 1
MGI:1277977
Synonyms E3 alpha
Feature Type protein coding gene
Genetic Map
Chromosome 2
60.37 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr2:120860269-120970715 bp, - strand
From VEGA annotation of GRCm38

  110447 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7582  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Ubr1

Human
homologs
Human Homolog UBR1, ubiquitin protein ligase E3 component n-recognin 1
NCBI Gene ID 197131
neXtProt AC  NX_Q8IWV7
Human Synonyms  JBS
Human Chr (Location)  15q13; chr15:42942897-43106088 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human UBR1
Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Gene trapped(11) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed.
 
Human Diseases Modeled Using Mouse Ubr1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)
Interactions
Ubr1 interacts with 392 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process cellular response to leucine, negative regulation of TOR signaling, ...
Component cytoplasm, proteasome complex, ...
Function coenzyme F420-0 gamma-glutamyl ligase activity, coenzyme F420-2 alpha-glutamyl ligase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (119)    Tissues (117)   
Theiler Stages: 6, 8, 9, 11, 13, 15, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
RNA in situ 100
Northern blot 19
cDNA source data(20)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(30) Genomic(2) cDNA(26) Primer pair(1) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000015780 (Evidence)
Ensembl Gene ModelENSMUSG00000027272 (Evidence)
Entrez Gene22222 (Evidence)
DFCITC1581298, TC1604268, TC1616683, TC1630439
NIA Mouse Gene IndexU023252
EC6.3.2.-
Consensus CDS ProjectCCDS16628.1
International Mouse Knockout Project StatusUbr1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015780 VEGA Gene Model | MGI Sequence Detail 110447 C57BL/6J ±  kb
transcript OTTMUST00000037499 VEGA | MGI Sequence Detail 7768 Not Applicable 
polypeptide OTTMUSP00000016806 VEGA | MGI Sequence Detail 1757 Not Applicable 

For the selected sequences
All sequences(48) RefSeq(7) UniProt(4)
Polymorphisms SNPs within 2kb(990 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003769 Adaptor protein ClpS, core
InterPro IPR014719 Ribosomal protein L7/L12, C-terminal/adaptor protein ClpS-like
InterPro IPR003126 Zinc finger, N-recognin
InterPro IPR013993 Zinc finger, N-recognin, metazoa
Protein Ontology PR:000017012 E3 ubiquitin-protein ligase UBR1
References (Earliest) J:48738 Kwon YT, et al., The mouse and human genes encoding the recognition component of the N-end rule pathway. Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):7898-903
(Latest) J:187008 Piatkov KI, et al., The N-end rule pathway counteracts cell death by destroying proapoptotic protein fragments. Proc Natl Acad Sci U S A. 2012 Jul 3;109(27):E1839-47
All references(46)
Disease annotation references (1)
Other
accession IDs
MGI:2138991

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/23/2014
MGI 5.19
The Jackson Laboratory