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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
Location & Maps
more
  • Sequence Map
    Chr15:27605919-27630693 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24775 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

  • Chr Location
    5p15.2; chr5:14664674-14712867 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human OTULIN associations

Human Disease Mouse Models
       Autoinflammation, Panniculitis, and Dermatosis Syndrome; AIPDS   OMIM: 617099
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
    9 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
    7
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    2
  • Targeted
    3
  • Genomic Mutations
    2 involving Otulin
  • Incidental Mutations
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
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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000046034 Ensembl Gene Model | MGI Sequence Detail 24775 C57BL/6J ±  kb
transcript ENSMUST00000059662 Ensembl | MGI Sequence Detail 1491 Not Applicable  
polypeptide ENSMUSP00000057893 Ensembl | MGI Sequence Detail 352 Not Applicable  
For the selected sequence
Polymorphisms
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  • 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 25
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 9
  • 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: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
11/29/2016
MGI 6.06
The Jackson Laboratory