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Ubr1 Gene Detail
Summary
  • Symbol
    Ubr1
  • Name
    ubiquitin protein ligase E3 component n-recognin 1
  • Synonyms
    E3 alpha
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277977
    NCBI Gene: 22222
  • Gene Overview
    MyGene.info: UBR1
Location & Maps
more
  • Sequence Map
    Chr2:120860269-120970715 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      110447 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 60.37 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    UBR1, ubiquitin protein ligase E3 component n-recognin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    UBR1, ubiquitin protein ligase E3 component n-recognin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    JBS
  • Links
    NCBI Gene ID: 197131
    neXtProt AC: NX_Q8IWV7

  • Chr Location
    15q15.2; chr15:42942897-43106088 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 7582
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: UBR1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ubr1 mouse models; 1 with human UBR1 associations

Human Disease Mouse Models
       Johanson-Blizzard Syndrome; JBS   OMIM: 243800 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 1 allele in 2 genetic backgrounds
    25 phenotypes from multigenic genotypes
    3 images
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Chemically induced (other)
    1
  • Gene trapped
    11
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Ubr1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    974 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 31
    Genomic 2
    cDNA 27
    Primer pair 1
    Other 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:2138991
References
more
  • Summaries
    All 43
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 7
    Phenotypes 13
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory