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Ube3b
Gene Detail
 Symbol
Name
ID
Ube3b
ubiquitin protein ligase E3B
MGI:1891295
Feature Type protein coding gene
Genetic Map
Chromosome 5
55.99 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr5:114380628-114421168 bp, + strand
From VEGA annotation of GRCm38

  40541 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:13775  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: Ube3b

Human
homologs
Human Homolog UBE3B, ubiquitin protein ligase E3B
NCBI Gene ID 89910
neXtProt AC  NX_Q7Z3V4
Human Synonyms  BPIDS
Human Chr (Location)  12q24.11; chr12:109477410-109536705 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human UBE3B
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(6) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a gene trap allele exhibit preweaning lethality, reduced fertility, decreased growth, reduced grip strength, impaired hearing, eye inflammation and decreased cholesterol level.
 
Human Diseases Modeled Using Mouse Ube3b (2)    Alleles Annotated to Human Diseases(1)   
Interactions
Ube3b interacts with 219 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process protein ubiquitination involved in ubiquitin-dependent protein catabolic process
Component cytoplasm, nucleus
Function coenzyme F420-0 gamma-glutamyl ligase activity, coenzyme F420-2 alpha-glutamyl ligase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (94)    Tissues (94)    Images (19)
Theiler Stages: 22, 28
Assay TypeResults
RNA in situ 94
cDNA source data(218)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(219) cDNA(218) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000014459 (Evidence)
Ensembl Gene ModelENSMUSG00000029577 (Evidence)
Entrez Gene117146 (Evidence)
UniGene28792
DFCITC1572083, TC1720323
DoTSDT.101129200, DT.101169608, DT.492516
NIA Mouse Gene IndexU006031
EC6.3.2.-
Consensus CDS ProjectCCDS19564.1
International Mouse Knockout Project StatusUbe3b
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014459 VEGA Gene Model | MGI Sequence Detail 40541 C57BL/6J ±  kb
transcript OTTMUST00000034306 VEGA | MGI Sequence Detail 5172 Not Applicable 
polypeptide OTTMUSP00000015362 VEGA | MGI Sequence Detail 1070 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(7) UniProt(3)
Polymorphisms SNPs within 2kb(370 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000569 HECT
InterPro IPR000048 IQ motif, EF-hand binding site
Protein Ontology PR:000016993 ubiquitin-protein ligase E3B
References (Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:203652 Basel-Vanagaite L, et al., Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91(6):998-1010
All references(37)
Disease annotation references (1)
Other
accession IDs
MGI:2140892, MGI:2141051

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory