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Usp18 Gene Detail
Summary
  • Symbol
    Usp18
  • Name
    ubiquitin specific peptidase 18
  • Synonyms
    1110058H21Rik, UBP43
  • Feature Type
    protein coding gene
  • IDs
    MGI:1344364
    NCBI Gene: 24110
  • Alliance
    gene page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:121222865-121247876 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 57.17 cM, cytoband F
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    704 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1344364
 protein coding gene Chr6:121222865-121247876 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031215
 protein coding gene Chr6:124186070-124211881 (+)
A/J MGP_AJ_G0031184
 protein coding gene Chr6:119400179-119425721 (+)
AKR/J MGP_AKRJ_G0031115
 protein coding gene Chr6:122623935-122648822 (+)
BALB/cJ MGP_BALBcJ_G0031195
 protein coding gene Chr6:119168490-119193460 (+)
C3H/HeJ MGP_C3HHeJ_G0030913
 protein coding gene Chr6:122652818-122678404 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031653
 protein coding gene Chr6:127363332-127388255 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028813
 protein coding gene Chr6:116302086-116331533 (+)
CAST/EiJ MGP_CASTEiJ_G0030302
 protein coding gene Chr6:123096996-123125101 (+)
CBA/J MGP_CBAJ_G0030878
 protein coding gene Chr6:132421503-132448725 (+)
DBA/2J MGP_DBA2J_G0031034
 protein coding gene Chr6:118292153-118317190 (+)
FVB/NJ MGP_FVBNJ_G0030986
 protein coding gene Chr6:117436517-117461737 (+)
LP/J MGP_LPJ_G0031113
 protein coding gene Chr6:124174101-124203390 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031020
 protein coding gene Chr6:136362222-136388027 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031682
 protein coding gene Chr6:122658257-122686193 (+)
PWK/PhJ MGP_PWKPhJ_G0030017
 protein coding gene Chr6:117333570-117359460 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029846
 protein coding gene Chr6:121397006-121423956 (+)
WSB/EiJ MGP_WSBEiJ_G0030385
 protein coding gene Chr6:122951531-122978726 (+)



Homology
more
  • Human Ortholog
    USP18, ubiquitin specific peptidase 18
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    USP18, ubiquitin specific peptidase 18
  • Synonyms
    ISG43, PTORCH2, UBP43
  • Links
    NCBI Gene ID: 11274
    neXtProt AC: NX_Q9UMW8
    UniProt: Q9UMW8

  • Chr Location
    22q11.21; chr22:18149843-18177397 (+)  GRCh38
  • Human Ortholog
    USP41P, ubiquitin specific peptidase 41, pseudogene
  • Synonyms
    USP18B, USP41
  • Links
    NCBI Gene ID: 373856

  • Chr Location
    22q11.21; chr22:20363616-20377260 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 2 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    45 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.
Homozygous null mutants die prematurely with cellular necrosis in the ependyma, breakdown of blood-brain barrier, hydrocephaly with enlarged ventricles, and severe neurological abnormalities. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to Salmonella infection and LPS.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    12
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
    742
  • Tissues
    3
  • cDNA Data
    49
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 24110 NCBI Gene Model | MGI Sequence Detail 25012 C57BL/6J ±  kb
    transcript NM_011909 RefSeq | MGI Sequence Detail 1778 ZRU/MplStud  
    polypeptide Q9WTV6 UniProt | EBI | MGI Sequence Detail 368 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • PDB
      5CHT, 5CHV
    • EC
      3.4.19.12
    • InterPro Domains
      IPR038765 Papain-like cysteine peptidase superfamily
      IPR001394 Peptidase C19, ubiquitin carboxyl-terminal hydrolase
      IPR050164 Ubiquitin carboxyl-terminal hydrolases
      IPR018200 Ubiquitin specific protease, conserved site
      IPR028889 Ubiquitin specific protease domain
    Molecular
    Reagents
    less
    • All nucleic 50
      cDNA 49
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1916032, MGI:2141633
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 5
      Gene Ontology 12
      Phenotypes 45
    • Earliest
      J:53884 Liu LQ, et al., A novel ubiquitin-specific protease, UBP43, cloned from leukemia fusion protein AML1-ETO-expressing mice, functions in hematopoietic cell differentiation. Mol Cell Biol. 1999 Apr;19(4):3029-38
    • Latest
      J:354587 Nedomova M, et al., DDI2 protease controls embryonic development and inflammation via TCF11/NRF1. iScience. 2024 Oct 18;27(10):110893
    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
    11/05/2024
    MGI 6.24     		The Jackson Laboratory