• Gene id: 84749

Gene Summary

• Gene Symbol: USP30   Gene   UCSC   Ensembl
• Gene name: ubiquitin specific peptidase 30
• Alternate names: ubiquitin carboxyl-terminal hydrolase 30, deubiquitinating enzyme 30, ub-specific protease 30, ubiquitin thioesterase 30, ubiquitin thiolesterase 30, ubiquitin-specific protease 30, ubiquitin-specific-processing protease 30,
• Gene location: 12q24.11 (10249908: 10225506)     Exons: 7     NC_000005.10
• Gene summary(Entrez): USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]
• OMIM: 612492

Protein Summary

• Protein general information: Q70CQ3  
  • Name: Ubiquitin carboxyl terminal hydrolase 30 (EC 3.4.19.12) (Deubiquitinating enzyme 30) (Ubiquitin thioesterase 30) (Ubiquitin specific processing protease 30) (Ub specific protease 30)
  • Length: 517  
  • Mass: 58503
  • Tissue specificity: Expressed in skeletal muscle, pancreas, liver and kidney. {ECO
• Sequence:

  MLSSRAEAAMTAADRAIQRFLRTGAAVRYKVMKNWGVIGGIAAALAAGIYVIWGPITERKKRRKGLVPGLVNLGN
  TCFMNSLLQGLSACPAFIRWLEEFTSQYSRDQKEPPSHQYLSLTLLHLLKALSCQEVTDDEVLDASCLLDVLRMY
  RWQISSFEEQDAHELFHVITSSLEDERDRQPRVTHLFDVHSLEQQSEITPKQITCRTRGSPHPTSNHWKSQHPFH
  GRLTSNMVCKHCEHQSPVRFDTFDSLSLSIPAATWGHPLTLDHCLHHFISSESVRDVVCDNCTKIEAKGTLNGEK
  VEHQRTTFVKQLKLGKLPQCLCIHLQRLSWSSHGTPLKRHEHVQFNEFLMMDIYKYHLLGHKPSQHNPKLNKNPG
  PTLELQDGPGAPTPVLNQPGAPKTQIFMNGACSPSLLPTLSAPMPFPLPVVPDYSSSTYLFRLMAVVVHHGDMHS
  GHFVTYRRSPPSARNPLSTSNQWLWVSDDTVRKASLQEVLSSSAYLLFYERVLSRMQHQSQECKSEE

• Structural information:
  • Protein Domains: (68..50-)
    (/note="USP"-)
  • Interpro: IPR038765  IPR001394  IPR018200  IPR028889  
  • Prosite: PS00972 PS00973 PS50235
  • PDB: 5OHK 5OHN 5OHP
  • PDBsum: 5OHK 5OHN 5OHP
  • DIP: 53578
  • STRING: ENSP00000257548
• Other Databases: GeneCards:  USP30  Malacards:  USP30

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016579	protein deubiquitination	IBA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0035871	protein K11-linked deubiquitination	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0000422	autophagy of mitochondrion	IDA	biological process
GO:0044313	protein K6-linked deubiquitination	IDA	biological process
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0016579	protein deubiquitination	IDA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IDA	molecular function
GO:0005739	mitochondrion	ISS	cellular component
GO:0008053	mitochondrial fusion	ISS	biological process
GO:0004197	cysteine-type endopeptidase activity	IMP	molecular function
GO:0000422	autophagy of mitochondrion	IMP	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0016579	protein deubiquitination	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0016579	protein deubiquitination	IDA	biological process
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0016579	protein deubiquitination	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:1901525	negative regulation of mitophagy	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016579	protein deubiquitination	IEA	biological process
GO:0008053	mitochondrial fusion	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R