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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:120860269-120970715 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 60.37 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    974 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1277977
protein coding gene Chr2:120860269-120970728 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026375
protein coding gene Chr2:123726710-123843022 (-)
A/J MGP_AJ_G0026336
protein coding gene Chr2:118665986-118778706 (-)
AKR/J MGP_AKRJ_G0026315
protein coding gene Chr2:121988669-122108679 (-)
BALB/cJ MGP_BALBcJ_G0026349
protein coding gene Chr2:118902866-119013907 (-)
C3H/HeJ MGP_C3HHeJ_G0026095
protein coding gene Chr2:122479367-122597056 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026796
protein coding gene Chr2:127787260-127914405 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024176
protein coding gene Chr2:113698565-113822086 (-)
CAST/EiJ MGP_CASTEiJ_G0025557
protein coding gene Chr2:122783998-122900014 (-)
CBA/J MGP_CBAJ_G0026071
protein coding gene Chr2:132235908-132358636 (-)
DBA/2J MGP_DBA2J_G0026210
protein coding gene Chr2:118054680-118177723 (-)
FVB/NJ MGP_FVBNJ_G0026172
protein coding gene Chr2:116888936-116999993 (-)
LP/J MGP_LPJ_G0026311
protein coding gene Chr2:123989677-124105375 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026191
protein coding gene Chr2:136535276-136669046 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026851
protein coding gene Chr2:122113354-122230177 (-)
PWK/PhJ MGP_PWKPhJ_G0025293
protein coding gene Chr2:117668326-117779811 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025092
protein coding gene Chr2:121328914-121448390 (-)
WSB/EiJ MGP_WSBEiJ_G0025626
protein coding gene Chr2:122942947-123057405 (-)



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
    UniProt: Q8IWV7

  • Chr Location
    15q15.2; chr15:42942897-43106088 (-)  GRCh38.p7

  • 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
      
IDs
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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
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  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027272 Ensembl Gene Model | MGI Sequence Detail 110447 C57BL/6J ±  kb
    transcript ENSMUST00000028728 Ensembl | MGI Sequence Detail 7768 Not Applicable  
    polypeptide ENSMUSP00000028728 Ensembl | MGI Sequence Detail 1757 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 35
      Genomic 2
      cDNA 31
      Primer pair 1
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2138991
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 8
      Phenotypes 13
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • 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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory