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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:27606005-27630793 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 10.31 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    684 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3577015
 protein coding gene Chr15:27542721-27630793 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021756
 protein coding gene Chr15:25676309-25701150 (-)
A/J MGP_AJ_G0021717
 protein coding gene Chr15:24693991-24718882 (-)
AKR/J MGP_AKRJ_G0021695
 protein coding gene Chr15:25270092-25296808 (-)
BALB/cJ MGP_BALBcJ_G0021724
 protein coding gene Chr15:24661614-24687116 (-)
C3H/HeJ MGP_C3HHeJ_G0021499
 protein coding gene Chr15:25324416-25349218 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022163
 protein coding gene Chr15:26722046-26755106 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019702
 protein coding gene Chr15:23005619-23031285 (-)
CAST/EiJ MGP_CASTEiJ_G0021015
 protein coding gene Chr15:25712709-25737357 (-)
CBA/J MGP_CBAJ_G0021468
 protein coding gene Chr15:27509281-27534049 (-)
DBA/2J MGP_DBA2J_G0021592
 protein coding gene Chr15:24447716-24472387 (-)
FVB/NJ MGP_FVBNJ_G0021570
 protein coding gene Chr15:24012338-24038613 (-)
LP/J MGP_LPJ_G0021660
 protein coding gene Chr15:25542944-25568060 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021595
 protein coding gene Chr15:30269284-30294093 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022186
 protein coding gene Chr15:25489518-25515181 (-)
PWK/PhJ MGP_PWKPhJ_G0020758
 protein coding gene Chr15:24629959-24656362 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020596
 protein coding gene Chr15:25297736-25322401 (-)
WSB/EiJ MGP_WSBEiJ_G0021071
 protein coding gene Chr15:25459767-25485334 (-)



Homology
more
  • Human Ortholog
    OTULIN, OTU deubiquitinase with linear linkage specificity
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OTULIN, OTU deubiquitinase with linear linkage specificity
  • Synonyms
    AIPDS, FAM105B, GUM, IMD107
  • Links
    NCBI Gene ID: 90268
    neXtProt AC: NX_Q96BN8
    UniProt: Q96BN8

  • Chr Location
    5p15.2; chr5:14664664-14716525 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human OTULIN associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 5 alleles in 6 genetic backgrounds
    5 phenotypes from multigenic genotypes
    25 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.
Embryos homozygous for an ENU-induced mutation exhibit micrognathia, microcephaly, paucity of blood, and abnormal facial and vestibulocochlear nerve morphology. Keratinocyte-specific KO leads to delineated inflamed skin lesions (dermatitis) on back and tail.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    7
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    747
  • Tissues
    34
  • cDNA Data
    25
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 432940 NCBI Gene Model | MGI Sequence Detail 24789 C57BL/6J ±  kb
    transcript NR_183245 RefSeq | MGI Sequence Detail 1708 C57BL/6  
    polypeptide Q3UCV8 UniProt | EBI | MGI Sequence Detail 352 Not Applicable  
    For the selected sequence
    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 48
      Developmental Gene Expression 5
      Gene Ontology 7
      Phenotypes 25
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory