• Gene id: 54532

Gene Summary

• Gene Symbol: USP53   Gene   UCSC   Ensembl
• Gene name: ubiquitin specific peptidase 53
• Alternate names: inactive ubiquitin carboxyl-terminal hydrolase 53, inactive ubiquitin-specific peptidase 53, ubiquitin specific protease 53, ubiquitin specific proteinase 53,
• Gene location: 4q26 (119212611: 119295517)     Exons: 21     NC_000004.12
• OMIM: 617431

Protein Summary

• Protein general information: Q70EK8  
  • Name: Inactive ubiquitin carboxyl terminal hydrolase 53 (Inactive ubiquitin specific peptidase 53)
  • Length: 1073  
  • Mass: 120806
  • Tissue specificity: Expressed predominantly in skeletal muscle and heart. {ECO
• Sequence:

  MAWVKFLRKPGGNLGKVYQPGSMLSLAPTKGLLNEPGQNSCFLNSAVQVLWQLDIFRRSLRVLTGHVCQGDACIF
  CALKTIFAQFQHSREKALPSDNIRHALAESFKDEQRFQLGLMDDAAECFENMLERIHFHIVPSRDADMCTSKSCI
  THQKFAMTLYEQCVCRSCGASSDPLPFTEFVRYISTTALCNEVERMLERHERFKPEMFAELLQAANTTDDYRKCP
  SNCGQKIKIRRVLMNCPEIVTIGLVWDSEHSDLTEAVVRNLATHLYLPGLFYRVTDENAKNSELNLVGMICYTSQ
  HYCAFAFHTKSSKWVFFDDANVKEIGTRWKDVVSKCIRCHFQPLLLFYANPDGTAVSTEDALRQVISWSHYKSVA
  ENMGCEKPVIHKSDNLKENGFGDQAKQRENQKFPTDNISSSNRSHSHTGVGKGPAKLSHIDQREKIKDISRECAL
  KAIEQKNLLSSQRKDLEKGQRKDLGRHRDLVDEDLSHFQSGSPPAPNGFKQHGNPHLYHSQGKGSYKHDRVVPQS
  RASAQIISSSKSQILAPGEKITGKVKSDNGTGYDTDSSQDSRDRGNSCDSSSKSRNRGWKPMRETLNVDSIFSES
  EKRQHSPRHKPNISNKPKSSKDPSFSNWPKENPKQKGLMTIYEDEMKQEIGSRSSLESNGKGAEKNKGLVEGKVH
  GDNWQMQRTESGYESSDHISNGSTNLDSPVIDGNGTVMDISGVKETVCFSDQITTSNLNKERGDCTSLQSQHHLE
  GFRKELRNLEAGYKSHEFHPESHLQIKNHLIKRSHVHEDNGKLFPSSSLQIPKDHNAREHIHQSDEQKLEKPNEC
  KFSEWLNIENSERTGLPFHVDNSASGKRVNSNEPSSLWSSHLRTVGLKPETAPLIQQQNIMDQCYFENSLSTECI
  IRSASRSDGCQMPKLFCQNLPPPLPPKKYAITSVPQSEKSESTPDVKLTEVFKATSHLPKHSLSTASEPSLEVST
  HMNDERHKETFQVRECFGNTPNCPSSSSTNDFQANSGAIDAFCQPELDSISTCPNETVSLTTYFSVDSCMTDTYR
  LKYHQRPKLSFPESSGFCNNSLS

• Structural information:
  • Protein Domains: (30..35-)
    (/note="USP"-)
  • Interpro: IPR038765  IPR001394  IPR040143  IPR028889  
  • Prosite: PS50235
  • STRING: ENSP00000409906
• Other Databases: GeneCards:  USP53  Malacards:  USP53

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005911	cell-cell junction	IBA	cellular component
GO:0010996	response to auditory stimulus	IBA	biological process
GO:0007605	sensory perception of sound	IBA	biological process
GO:0016579	protein deubiquitination	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0010996	response to auditory stimulus	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0001508	action potential	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IDA	NOT|molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)