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Usp30 Gene Detail
Summary
  • Symbol
    Usp30
  • Name
    ubiquitin specific peptidase 30
  • Synonyms
    6330590F17Rik, D5Ertd483e
  • Feature Type
    protein coding gene
  • IDs
    MGI:2140991
    NCBI Gene: 100756
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:114238395-114261571 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 55.96 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    718 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2140991
 protein coding gene Chr5:114203522-114262781 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029930
 protein coding gene Chr5:116777873-116838118 (+)
A/J MGP_AJ_G0029895
 protein coding gene Chr5:112195028-112254971 (+)
AKR/J MGP_AKRJ_G0029833
 protein coding gene Chr5:115757025-115820809 (+)
BALB/cJ MGP_BALBcJ_G0029906
 protein coding gene Chr5:113563704-113623262 (+)
C3H/HeJ MGP_C3HHeJ_G0029626
 protein coding gene Chr5:116246014-116308491 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030360
 protein coding gene Chr5:121293823-121356158 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027588
 protein coding gene Chr5:107021150-107079974 (+)
CAST/EiJ MGP_CASTEiJ_G0029034
 protein coding gene Chr5:115178751-115244636 (+)
CBA/J MGP_CBAJ_G0029593
 protein coding gene Chr5:125885582-125953524 (+)
DBA/2J MGP_DBA2J_G0029743
 protein coding gene Chr5:112254954-112314073 (+)
FVB/NJ MGP_FVBNJ_G0029700
 protein coding gene Chr5:111044430-111110162 (+)
LP/J MGP_LPJ_G0029832
 protein coding gene Chr5:117345632-117407093 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029731
 protein coding gene Chr5:130366587-130431193 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030401
 protein coding gene Chr5:115214398-115277145 (+)
PWK/PhJ MGP_PWKPhJ_G0028748
 protein coding gene Chr5:110884503-110942419 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028586
 protein coding gene Chr5:112757222-112817382 (+)
WSB/EiJ MGP_WSBEiJ_G0029110
 protein coding gene Chr5:115780192-115841678 (+)



Homology
more
  • Human Ortholog
    USP30, ubiquitin specific peptidase 30
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    USP30, ubiquitin specific peptidase 30
  • Links
    NCBI Gene ID: 84749
    neXtProt AC: NX_Q70CQ3
    UniProt: Q70CQ3

  • Chr Location
    12q24.11
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 2 alleles in 2 genetic backgrounds
    18 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 knockout results in increased mitophagy and changes in mitochondrial metabolism in neurons.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • 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
    706
  • cDNA Data
    38
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 100756 NCBI Gene Model | MGI Sequence Detail 23177 C57BL/6J ±  kb
    transcript NM_001417953 RefSeq | MGI Sequence Detail 3567 ZRU/MplStud  
    polypeptide Q3UN04 UniProt | EBI | MGI Sequence Detail 517 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 39
      cDNA 38
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1196355
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 1
      Gene Ontology 7
      Phenotypes 18
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:348785 Zhang D, et al., Maternal Ezh1/2 deficiency impairs the function of mitochondria in mouse oocytes and early embryos. J Cell Physiol. 2024 Mar 26;
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory