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Otulin Gene Detail
Summary
  • Symbol
    Otulin
  • Name
    OTU deubiquitinase with linear linkage specificity
  • Synonyms
    Fam105b, gumby, m3Sapc, m7-1Sapc, MGC:107335
  • Feature Type
    protein coding gene
  • IDs
    MGI:3577015
    NCBI Gene: 432940
  • Gene Overview
    MyGene.info: OTULIN
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:27605917-27630980 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      25064 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 10.31 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    OTULIN, OTU deubiquitinase with linear linkage specificity
  • Vertebrate Orthologs
    11
  • Human Ortholog
    OTULIN, OTU deubiquitinase with linear linkage specificity
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AIPDS, FAM105B, GUM
  • Links
    NCBI Gene ID: 90268
    neXtProt AC: NX_Q96BN8
    UniProt: Q96BN8

  • Chr Location
    5p15.2; chr5:14660794-14716552 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human OTULIN associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 2 alleles in 2 genetic backgrounds
    10 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.
Embryos homozygous for an ENU-induced mutation exhibit micrognathia, microcephaly, paucity of blood, and abnormal facial and vestibulocochlear nerve morphology.
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 432940 NCBI Gene Model | MGI Sequence Detail 25064 C57BL/6J ±  kb
    transcript NM_001013792 RefSeq | MGI Sequence Detail 1491 C57BL/6  
    polypeptide Q3UCV8 UniProt | EBI | MGI Sequence Detail 352 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      143 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 26
      cDNA 25
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2146289, MGI:4829950
    References
    more
    • Summaries
      All 31
      Developmental Gene Expression 2
      Gene Ontology 5
      Phenotypes 10
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:236075 Damgaard RB, et al., The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity. Cell. 2016 Aug 25;166(5):1215-1230.e20

    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
    07/31/2018
    MGI 6.12
    The Jackson Laboratory