• Gene id: 8975

Gene Summary

• Gene Symbol: USP13   Gene   UCSC   Ensembl
• Aliases: ISOT3, IsoT-3
• Gene name: ubiquitin specific peptidase 13
• Alternate names: ubiquitin carboxyl-terminal hydrolase 13, deubiquitinating enzyme 13, ubiquitin specific peptidase 13 (isopeptidase T-3), ubiquitin specific protease 13 (isopeptidase T-3), ubiquitin thioesterase 13, ubiquitin thiolesterase 13, ubiquitin-specific-processing pro,
• Gene location: 3q26.33 (101790481: 102074811)     Exons: 19     NC_000004.12
• OMIM: 603591

Protein Summary

• Protein general information: Q92995  
  • Name: Ubiquitin carboxyl terminal hydrolase 13 (EC 3.4.19.12) (Deubiquitinating enzyme 13) (Isopeptidase T 3) (ISOT 3) (Ubiquitin thioesterase 13) (Ubiquitin specific processing protease 13)
  • Length: 863  
  • Mass: 97327
  • Tissue specificity: Highly expressed in ovary and testes.
• Sequence:

  MQRRGALFGMPGGSGGRKMAAGDIGELLVPHMPTIRVPRSGDRVYKNECAFSYDSPNSEGGLYVCMNTFLAFGRE
  HVERHFRKTGQSVYMHLKRHVREKVRGASGGALPKRRNSKIFLDLDTDDDLNSDDYEYEDEAKLVIFPDHYEIAL
  PNIEELPALVTIACDAVLSSKSPYRKQDPDTWENELPVSKYANNLTQLDNGVRIPPSGWKCARCDLRENLWLNLT
  DGSVLCGKWFFDSSGGNGHALEHYRDMGYPLAVKLGTITPDGADVYSFQEEEPVLDPHLAKHLAHFGIDMLHMHG
  TENGLQDNDIKLRVSEWEVIQESGTKLKPMYGPGYTGLKNLGNSCYLSSVMQAIFSIPEFQRAYVGNLPRIFDYS
  PLDPTQDFNTQMTKLGHGLLSGQYSKPPVKSELIEQVMKEEHKPQQNGISPRMFKAFVSKSHPEFSSNRQQDAQE
  FFLHLVNLVERNRIGSENPSDVFRFLVEERIQCCQTRKVRYTERVDYLMQLPVAMEAATNKDELIAYELTRREAE
  ANRRPLPELVRAKIPFSACLQAFSEPENVDDFWSSALQAKSAGVKTSRFASFPEYLVVQIKKFTFGLDWVPKKFD
  VSIDMPDLLDINHLRARGLQPGEEELPDISPPIVIPDDSKDRLMNQLIDPSDIDESSVMQLAEMGFPLEACRKAV
  YFTGNMGAEVAFNWIIVHMEEPDFAEPLTMPGYGGAASAGASVFGASGLDNQPPEEIVAIITSMGFQRNQAIQAL
  RATNNNLERALDWIFSHPEFEEDSDFVIEMENNANANIISEAKPEGPRVKDGSGTYELFAFISHMGTSTMSGHYI
  CHIKKEGRWVIYNDHKVCASERPPKDLGYMYFYRRIPS

• Structural information:
  • Protein Domains: (336..86-)
    (/note="USP-)
    (652..69-)
    (/note="UBA-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00212-)
    (727..76-)
    (/note="UBA-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00212"-)
  • Interpro: IPR038765  IPR001394  IPR015940  IPR009060  IPR016652   IPR041432  IPR018200  IPR028889  IPR013083  IPR001607  
  • Prosite: PS50030 PS00972 PS00973 PS50235 PS50271
  • PDB: 2L80 2LBC
  • PDBsum: 2L80 2LBC
  • DIP: 53511
  • STRING: ENSP00000263966
• Other Databases: GeneCards:  USP13  Malacards:  USP13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904294	positive regulation of ERAD pathway	IMP	biological process
GO:1904288	BAT3 complex binding	IDA	molecular function
GO:0070628	proteasome binding	IDA	molecular function
GO:1904378	maintenance of unfolded protein involved in ERAD pathway	IMP	biological process
GO:0051087	chaperone binding	IPI	molecular function
GO:1990380	Lys48-specific deubiquitinase activity	IMP	molecular function
GO:0044389	ubiquitin-like protein ligase binding	IPI	molecular function
GO:0016579	protein deubiquitination	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0010506	regulation of autophagy	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:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IDA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IDA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IDA	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0030318	melanocyte differentiation	TAS	biological process
GO:0008283	cell population proliferation	IMP	biological process
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004197	cysteine-type endopeptidase activity	IMP	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0016579	protein deubiquitination	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0006914	autophagy	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0044313	protein K6-linked deubiquitination	IDA	biological process
GO:0035523	protein K29-linked deubiquitination	IDA	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071108	protein K48-linked deubiquitination	IEA	biological process

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray